Variant report

Variant	esv1840020
Chromosome Location	chr13:52345838-52388765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1649)
CpG islands
(count:1039)
Chromatin interactive
region (count:80)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1649 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:52360278-52360597	K562	blood:	n/a	n/a
2	ARID3A	chr13:52377699-52377908	K562	blood:	n/a	n/a
3	ATF1	chr13:52377504-52378523	K562	blood:	n/a	n/a
4	ATF2	chr13:52371704-52372239	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr13:52371703-52372179	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr13:52367573-52368630	GM12878	blood:	n/a	n/a
7	ATF2	chr13:52377493-52378555	GM12878	blood:	n/a	chr13:52377912-52377923
8	ATF2	chr13:52371795-52372208	GM12878	blood:	n/a	n/a
9	ATF2	chr13:52377435-52378108	H1-hESC	embryonic stem cell:	n/a	chr13:52377912-52377923
10	ATF2	chr13:52371741-52372258	GM12878	blood:	n/a	n/a
11	ATF2	chr13:52377395-52378675	GM12878	blood:	n/a	chr13:52377912-52377923
12	ATF2	chr13:52367562-52368583	GM12878	blood:	n/a	n/a
13	ATF2	chr13:52378085-52378611	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr13:52378117-52378735	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr13:52377813-52378432	K562	blood:	n/a	chr13:52377914-52377924 chr13:52377913-52377924 chr13:52377914-52377921 chr13:52377911-52377924 chr13:52378325-52378338 chr13:52378129-52378138 chr13:52377911-52377924 chr13:52377902-52377922 chr13:52377942-52377962 chr13:52377913-52377933 chr13:52378134-52378154 chr13:52377912-52377925
16	ATF3	chr13:52367617-52368003	K562	blood:	n/a	n/a
17	ATF3	chr13:52378117-52378557	K562	blood:	n/a	chr13:52378325-52378338 chr13:52378129-52378138 chr13:52378134-52378154
18	ATF3	chr13:52377967-52378480	HepG2	liver:	n/a	chr13:52378325-52378338 chr13:52378129-52378138 chr13:52378134-52378154
19	ATF3	chr13:52377701-52378073	K562	blood:	n/a	chr13:52377914-52377924 chr13:52377913-52377924 chr13:52377914-52377921 chr13:52377911-52377924 chr13:52377911-52377924 chr13:52377902-52377922 chr13:52377942-52377962 chr13:52377913-52377933 chr13:52377912-52377925
20	BACH1	chr13:52367629-52368133	K562	blood:	n/a	n/a
21	BACH1	chr13:52385138-52385165	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr13:52367680-52368031	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr13:52368442-52368613	K562	blood:	n/a	n/a
24	BACH1	chr13:52377614-52378338	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr13:52376365-52376687	GM12878	blood:	n/a	n/a
26	BATF	chr13:52367657-52368346	GM12878	blood:	n/a	chr13:52367823-52367833
27	BATF	chr13:52376333-52376661	GM12878	blood:	n/a	n/a
28	BATF	chr13:52386320-52386655	GM12878	blood:	n/a	n/a
29	BATF	chr13:52367719-52368336	GM12878	blood:	n/a	chr13:52367823-52367833
30	BCL11A	chr13:52368078-52368335	GM12878	blood:	n/a	n/a
31	BCL11A	chr13:52368028-52368329	GM12878	blood:	n/a	n/a
32	BCL3	chr13:52378659-52379103	GM12878	blood:	n/a	n/a
33	BCLAF1	chr13:52367757-52368507	GM12878	blood:	n/a	n/a
34	BCLAF1	chr13:52377446-52378621	GM12878	blood:	n/a	n/a
35	BHLHE40	chr13:52346130-52346234	K562	blood:	n/a	n/a
36	BHLHE40	chr13:52360151-52360567	K562	blood:	n/a	n/a
37	BHLHE40	chr13:52386063-52386559	GM12878	blood:	n/a	n/a
38	BHLHE40	chr13:52377496-52378376	K562	blood:	n/a	n/a
39	BHLHE40	chr13:52377407-52378652	GM12878	blood:	n/a	n/a
40	BHLHE40	chr13:52377466-52378632	HepG2	liver:	n/a	n/a
41	BHLHE40	chr13:52367792-52368389	GM12878	blood:	n/a	n/a
42	BRCA1	chr13:52378425-52378478	GM12878	blood:	n/a	n/a
43	BRCA1	chr13:52379421-52379543	GM12878	blood:	n/a	n/a
44	BRCA1	chr13:52377586-52378039	GM12878	blood:	n/a	n/a
45	BRCA1	chr13:52377739-52378064	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr13:52378296-52378371	H1-hESC	embryonic stem cell:	n/a	n/a
47	BRCA1	chr13:52355449-52355607	HepG2	liver:	n/a	n/a
48	BRCA1	chr13:52387466-52387636	GM12878	blood:	n/a	n/a
49	BRCA1	chr13:52386308-52386362	GM12878	blood:	n/a	n/a
50	CBX3	chr13:52377514-52378071	K562	blood:	n/a	n/a

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52378294-52378344	HCPEpiC	choroid plexus:	n/a
2	chr13:52377730-52377780	NB4	blood:	n/a
3	chr13:52378294-52378344	HCPEpiC	choroid plexus:	n/a
4	chr13:52377730-52377780	NB4	blood:	n/a
5	chr13:52378319-52378369	HRPEpiC	eye:	n/a
6	chr13:52378294-52378344	LNCaP	prostate:	n/a
7	chr13:52375776-52375826	SK-N-MC	brain:	n/a
8	chr13:52378287-52378337	T-47D	breast:	n/a
9	chr13:52378555-52378605	GM19239	blood:	n/a
10	chr13:52378319-52378369	AG04449	skin:	fetal
11	chr13:52378305-52378355	HIPEpiC	eye:	n/a
12	chr13:52378319-52378369	HCF	heart:	n/a
13	chr13:52377730-52377780	Jurkat	blood:	n/a
14	chr13:52375776-52375826	HCM	heart:	n/a
15	chr13:52378179-52378229	Caco-2	colon:	n/a
16	chr13:52378339-52378389	HepG2	liver:	n/a
17	chr13:52378179-52378229	HepG2	liver:	n/a
18	chr13:52378179-52378229	SK-N-SH	brain:	n/a
19	chr13:52378305-52378355	CMK	blood:	n/a
20	chr13:52378179-52378229	U87	brain:	n/a
21	chr13:52378294-52378344	GM12891	blood:	n/a
22	chr13:52378323-52378373	HEEpiC	esophagus:	n/a
23	chr13:52360268-52360318	HAEpiC	amniotic membrane:	n/a
24	chr13:52378319-52378369	ProgFib	skin:	n/a
25	chr13:52378555-52378605	PrEC	prostate:	n/a
26	chr13:52378530-52378580	NHDF-neo	bronchial:	n/a
27	chr13:52360268-52360318	HCM	heart:	n/a
28	chr13:52378530-52378580	AG09309	skin:	n/a
29	chr13:52360268-52360318	MCF10A-Er-Src	breast:	n/a
30	chr13:52378339-52378389	GM12891	blood:	n/a
31	chr13:52378744-52378794	AG09309	skin:	n/a
32	chr13:52377730-52377780	HRCEpiC	kidney:	n/a
33	chr13:52378339-52378389	SAEC	small airway:	n/a
34	chr13:52378339-52378389	GM06990	blood:	n/a
35	chr13:52378179-52378229	HNPCEpiC	eye:	n/a
36	chr13:52378179-52378229	HRCEpiC	kidney:	n/a
37	chr13:52377825-52377875	HL-60	blood:	n/a
38	chr13:52378294-52378344	HAEpiC	amniotic membrane:	n/a
39	chr13:52378305-52378355	AG09319	gingival:	n/a
40	chr13:52378323-52378373	HUVEC	blood vessel:	n/a
41	chr13:52371236-52371286	RPTEC	kidney:	n/a
42	chr13:52378339-52378389	ECC-1	luminal epithelium:	n/a
43	chr13:52360268-52360318	NT2-D1	testis:	n/a
44	chr13:52378319-52378369	GM12892	blood:	n/a
45	chr13:52378179-52378229	NT2-D1	testis:	n/a
46	chr13:52378323-52378373	HNPCEpiC	eye:	n/a
47	chr13:52378480-52378530	HCPEpiC	choroid plexus:	n/a
48	chr13:52378179-52378229	MCF-7	breast:	n/a
49	chr13:52378287-52378337	HRE	kidney:	n/a
50	chr13:52378305-52378355	GM12878	blood:	n/a

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:52336715..52338820-chr13:52345525..52347839,2	MCF-7	breast:
2	chr13:52025721..52028178-chr13:52344318..52347110,2	K562	blood:
3	chr13:52362450..52365314-chr13:52372802..52374458,2	K562	blood:
4	chr13:52024232..52029374-chr13:52366504..52381003,28	MCF-7	breast:
5	chr13:52018094..52022677-chr13:52372032..52375431,6	MCF-7	breast:
6	chr13:52025709..52029684-chr13:52361886..52365561,3	MCF-7	breast:
7	chr13:52368810..52370322-chr13:52370429..52372255,2	MCF-7	breast:
8	chr13:52013121..52015386-chr13:52344504..52346745,2	MCF-7	breast:
9	chr13:52160060..52163108-chr13:52376667..52378456,3	K562	blood:
10	chr13:52356403..52357979-chr13:52360988..52363353,2	MCF-7	breast:
11	chr13:52368810..52370322-chr13:52370429..52372255,2	MCF-7	breast:
12	chr13:52008757..52009930-chr13:52371510..52372492,6	MCF-7	breast:
13	chr13:52025577..52029967-chr13:52343918..52348772,7	MCF-7	breast:
14	chr13:52380223..52382865-chr13:52393568..52395438,2	K562	blood:
15	chr13:52358613..52360700-chr13:52362310..52366609,3	K562	blood:
16	chr13:52024804..52026542-chr13:52362122..52364177,2	K562	blood:
17	chr13:52361705..52366550-chr13:52366781..52371643,5	MCF-7	breast:
18	chr13:52160060..52162638-chr13:52376878..52378456,2	K562	blood:
19	chr13:52377591..52379548-chr13:52768375..52770242,2	K562	blood:
20	chr13:52370681..52375031-chr13:52376464..52379694,5	MCF-7	breast:
21	chr10:70939484..70940397-chr13:52377745..52378410,2	NB4	blood:
22	chr13:52362645..52365632-chr13:52377625..52381040,3	K562	blood:
23	chr13:52377836..52379871-chr13:53028245..53029773,2	K562	blood:
24	chr13:52008892..52009745-chr13:52355161..52356125,3	MCF-7	breast:
25	chr13:52307647..52308183-chr13:52371468..52372047,2	MCF-7	breast:
26	chr13:52368289..52369095-chr13:52377822..52378429,2	NB4	blood:
27	chr13:51986391..51989343-chr13:52354018..52356023,2	MCF-7	breast:
28	chr13:52356403..52357979-chr13:52360988..52363353,2	MCF-7	breast:
29	chr13:52377335..52378174-chr13:52702786..52703324,2	K562	blood:
30	chr13:52156934..52159026-chr13:52376788..52379281,3	K562	blood:
31	chr13:52354470..52357253-chr13:52359051..52361790,2	K562	blood:
32	chr13:52352368..52355270-chr13:52370453..52372078,2	MCF-7	breast:
33	chr11:111749646..111750367-chr13:52378129..52378685,2	HCT-116	colon:
34	chr13:52378339..52383117-chr13:52386356..52389758,6	K562	blood:
35	chr13:52358110..52360394-chr13:52370538..52373206,3	MCF-7	breast:
36	chr13:52377766..52378403-chr17:45973196..45973994,2	Hela-S3	cervix:
37	chr13:52022728..52028464-chr13:52376436..52381467,17	K562	blood:
38	chr13:52158563..52160769-chr13:52355265..52357918,2	MCF-7	breast:
39	chr13:52354659..52356461-chr13:52357844..52360753,2	MCF-7	breast:
40	chr13:52354659..52356461-chr13:52357844..52360753,2	MCF-7	breast:
41	chr13:52025138..52029754-chr13:52357567..52361649,5	MCF-7	breast:
42	chr13:52023012..52024610-chr13:52355811..52358608,2	MCF-7	breast:
43	chr13:52157433..52159948-chr13:52371232..52373854,2	MCF-7	breast:
44	chr13:52358110..52360394-chr13:52370538..52373206,3	MCF-7	breast:
45	chr13:52354470..52357253-chr13:52359051..52361790,2	K562	blood:
46	chr13:52363946..52366197-chr13:52367048..52368673,2	K562	blood:
47	chr13:52358426..52362241-chr13:52376415..52379493,4	K562	blood:
48	chr13:52315507..52317807-chr13:52354965..52356735,2	MCF-7	breast:
49	chr13:52387525..52389920-chr13:52398590..52400891,3	K562	blood:
50	chr13:52024750..52029081-chr13:52386237..52389081,4	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP7B-2	chr13:52348057-52348170	NONHSAT033950
2	lnc-WDFY2-1	chr13:52387293-52387356	ENSG00000231856.1
3	lnc-WDFY2-1	chr13:52387293-52387962	NONHSAT033954
4	lnc-WDFY2-1	chr13:52387293-52387962	NONHSAT033955
5	lnc-DHRS12-1	chr13:52387483-52391249	ENSG00000246013
6	lnc-WDFY2-1	chr13:52380918-52381165	NONHSAT033955
7	lnc-WDFY2-1	chr13:52380918-52381336	NONHSAT033954
8	lnc-WDFY2-1	chr13:52378433-52378937	ENSG00000231856.1
9	lnc-WDFY2-1	chr13:52378295-52387482	NONHSAT033952
10	lnc-ATP7B-2	chr13:52351196-52351257	NONHSAT033950
11	lnc-ATP7B-2	chr13:52351379-52351519	NONHSAT033950
12	lnc-ATP7B-2	chr13:52345957-52346047	NONHSAT033950

No data

Variant related genes	Relation type
ENSG00000231856	TF binding region
DHRS12	TF binding region
ENSG00000231856	CpG island
DHRS12	CpG island
ENSG00000102796	chromatin interactions
ENSG00000167182	chromatin interactions
ENSG00000139668	chromatin interactions
ENSG00000156502	chromatin interactions
ENSG00000123171	chromatin interactions
ENSG00000206920	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000197168	chromatin interactions
ENSG00000243406	chromatin interactions
ENSG00000224892	chromatin interactions
ENSG00000136108	chromatin interactions
ENSG00000231856	chromatin interactions
ENSG00000137720	chromatin interactions
ENSG00000258529	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000255561	chromatin interactions
CABYR	miRNA target sites

Extended variants
information (count: 1582 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1582 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2296027	chr13:52345838-52345839	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555983432	chr13:52345857-52345858	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs574955524	chr13:52345879-52345880	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs139858617	chr13:52345895-52345896	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs145376065	chr13:52345922-52345923	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs199994389	chr13:52345923-52345924	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs571976186	chr13:52345927-52345928	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs541093323	chr13:52345961-52345962	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs149959036	chr13:52345973-52345974	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs372666606	chr13:52345997-52345998	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs145091765	chr13:52346004-52346005	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs148725690	chr13:52346022-52346023	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs151116008	chr13:52346027-52346028	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs370157798	chr13:52346042-52346043	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs75590163	chr13:52346064-52346065	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs371091134	chr13:52346066-52346067	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs367838905	chr13:52346080-52346081	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs530816492	chr13:52346092-52346093	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs560109576	chr13:52346094-52346095	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs528762717	chr13:52346233-52346234	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs117777599	chr13:52346275-52346276	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs544400006	chr13:52346287-52346288	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs567247538	chr13:52346295-52346296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs7337396	chr13:52346334-52346335	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs373299065	chr13:52346363-52346364	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs140030158	chr13:52346394-52346395	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538463655	chr13:52346398-52346399	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs376599134	chr13:52346460-52346461	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs558307732	chr13:52346493-52346494	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs7319133	chr13:52346515-52346516	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534907761	chr13:52346530-52346531	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs149854447	chr13:52346534-52346535	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs573373	chr13:52346592-52346593	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs145789233	chr13:52346595-52346596	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs540786232	chr13:52346597-52346598	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs557504089	chr13:52346598-52346599	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs577382445	chr13:52346648-52346649	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs546449923	chr13:52346657-52346658	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs140675526	chr13:52346675-52346676	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs528827013	chr13:52346676-52346677	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs373206928	chr13:52346691-52346692	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs144639328	chr13:52346696-52346697	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs35352347	chr13:52346820-52346821	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs566947566	chr13:52346861-52346862	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs529702559	chr13:52346919-52346920	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs534682375	chr13:52346983-52346984	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs549332652	chr13:52347028-52347029	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs374397184	chr13:52347087-52347088	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs563067240	chr13:52347104-52347105	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs76223806	chr13:52347119-52347120	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52330600-52355600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:52335200-52347000	Weak transcription	Fetal Brain Male	brain
3	chr13:52335200-52348000	Weak transcription	Fetal Brain Female	brain
4	chr13:52339400-52347000	Weak transcription	A549	lung
5	chr13:52339400-52347600	Weak transcription	Aorta	Aorta
6	chr13:52339400-52347600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:52339400-52347800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:52339400-52349600	Weak transcription	Placenta	Placenta
9	chr13:52339400-52352000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:52339400-52356200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr13:52339400-52357400	Weak transcription	Colonic Mucosa	Colon
12	chr13:52339600-52356800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:52339600-52361400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr13:52339600-52375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:52339800-52346200	Strong transcription	Primary T cells from cord blood	blood
16	chr13:52339800-52359800	Weak transcription	Colon Smooth Muscle	Colon
17	chr13:52339800-52371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr13:52339800-52375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:52340400-52346400	Strong transcription	Thymus	Thymus
20	chr13:52340400-52348200	Strong transcription	Fetal Stomach	stomach
21	chr13:52340800-52352200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr13:52341200-52347800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:52341400-52354600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:52341400-52361200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr13:52341600-52352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:52341600-52356400	Weak transcription	Brain Germinal Matrix	brain
27	chr13:52341800-52346800	Weak transcription	Osteobl	bone
28	chr13:52342200-52346400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr13:52342400-52346200	Enhancers	Left Ventricle	heart
30	chr13:52342400-52347800	Enhancers	Right Atrium	heart
31	chr13:52342400-52348200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:52342600-52356200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:52342800-52355800	Weak transcription	Primary B cells from cord blood	blood
34	chr13:52343000-52351800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:52343200-52350000	Weak transcription	Fetal Lung	lung
36	chr13:52343200-52350400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:52343400-52346000	Strong transcription	Fetal Muscle Leg	muscle
38	chr13:52343400-52346400	Enhancers	Duodenum Mucosa	Duodenum
39	chr13:52343400-52350400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:52343400-52352000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr13:52343600-52346000	Enhancers	Stomach Mucosa	stomach
42	chr13:52343800-52349400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr13:52343800-52360200	Weak transcription	Small Intestine	intestine
44	chr13:52344200-52348200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr13:52344200-52351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:52344200-52352000	Weak transcription	HSMMtube	muscle
47	chr13:52344200-52352600	Weak transcription	Esophagus	oesophagus
48	chr13:52344200-52357800	Weak transcription	HSMM	muscle
49	chr13:52344400-52348200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr13:52344400-52348400	Strong transcription	Stomach Smooth Muscle	stomach

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