Variant report

Variant	esv3411665
Chromosome Location	chr17:18085527-18089325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:18086352-18087217	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:18086179-18087063	K562	blood:	n/a	n/a
3	ATF1	chr17:18086200-18087306	K562	blood:	n/a	chr17:18087187-18087201
4	ATF2	chr17:18089089-18089603	GM12878	blood:	n/a	n/a
5	ATF2	chr17:18086102-18087310	GM12878	blood:	n/a	chr17:18087187-18087201
6	ATF2	chr17:18086240-18087051	GM12878	blood:	n/a	n/a
7	ATF2	chr17:18086850-18087300	H1-hESC	embryonic stem cell:	n/a	chr17:18087187-18087201
8	ATF2	chr17:18086254-18087079	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr17:18086249-18087333	A549	lung:	n/a	chr17:18086949-18086958 chr17:18087188-18087201
10	ATF3	chr17:18086143-18087340	A549	lung:	n/a	chr17:18086949-18086958 chr17:18087188-18087201
11	ATF3	chr17:18086796-18087171	K562	blood:	n/a	chr17:18086949-18086958
12	ATF3	chr17:18086848-18087182	K562	blood:	n/a	chr17:18086949-18086958
13	BACH1	chr17:18086157-18088472	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr17:18087983-18088669	K562	blood:	n/a	n/a
15	BACH1	chr17:18086197-18087064	K562	blood:	n/a	n/a
16	BATF	chr17:18089091-18089467	GM12878	blood:	n/a	chr17:18089334-18089344
17	BATF	chr17:18089226-18089450	GM12878	blood:	n/a	chr17:18089334-18089344
18	BCL11A	chr17:18086469-18086839	GM12878	blood:	n/a	n/a
19	BCL11A	chr17:18086454-18087087	GM12878	blood:	n/a	chr17:18087015-18087024
20	BCL3	chr17:18087646-18088303	A549	lung:	n/a	n/a
21	BCL3	chr17:18086107-18087127	A549	lung:	n/a	chr17:18087015-18087024 chr17:18086418-18086431 chr17:18086410-18086423 chr17:18086409-18086422 chr17:18086407-18086420 chr17:18086408-18086417 chr17:18086416-18086429
22	BCL3	chr17:18085961-18087368	A549	lung:	n/a	chr17:18087015-18087024 chr17:18086418-18086431 chr17:18087277-18087286 chr17:18086410-18086423 chr17:18087302-18087315 chr17:18086409-18086422 chr17:18086407-18086420 chr17:18086408-18086417 chr17:18086416-18086429
23	BCLAF1	chr17:18086196-18087156	GM12878	blood:	n/a	chr17:18087015-18087024 chr17:18086418-18086431 chr17:18086410-18086423 chr17:18086409-18086422 chr17:18086407-18086420 chr17:18086408-18086417 chr17:18086416-18086429
24	BCLAF1	chr17:18086134-18087344	GM12878	blood:	n/a	chr17:18087015-18087024 chr17:18086418-18086431 chr17:18087277-18087286 chr17:18086410-18086423 chr17:18087302-18087315 chr17:18086409-18086422 chr17:18086407-18086420 chr17:18086408-18086417 chr17:18086416-18086429
25	BHLHE40	chr17:18085689-18087366	GM12878	blood:	n/a	chr17:18086407-18086423 chr17:18086495-18086511 chr17:18086410-18086426 chr17:18087270-18087286 chr17:18086415-18086431 chr17:18086404-18086420 chr17:18087295-18087311 chr17:18086399-18086415
26	BHLHE40	chr17:18086206-18087403	K562	blood:	n/a	chr17:18086407-18086423 chr17:18086495-18086511 chr17:18086410-18086426 chr17:18087270-18087286 chr17:18086415-18086431 chr17:18086404-18086420 chr17:18087295-18087311 chr17:18086399-18086415
27	BHLHE40	chr17:18087994-18088496	K562	blood:	n/a	n/a
28	BHLHE40	chr17:18089219-18089823	K562	blood:	n/a	n/a
29	BRCA1	chr17:18086199-18087468	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr17:18086252-18087321	HepG2	liver:	n/a	n/a
31	BRCA1	chr17:18085987-18087458	GM12878	blood:	n/a	n/a
32	BRCA1	chr17:18087921-18089168	Hela-S3	cervix:	n/a	chr17:18088984-18088991
33	CBX3	chr17:18087904-18088329	K562	blood:	n/a	n/a
34	CCNT2	chr17:18086198-18088353	K562	blood:	n/a	chr17:18087009-18087018
35	CEBPB	chr17:18086404-18087163	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr17:18086542-18087106	HepG2	liver:	n/a	n/a
37	CEBPB	chr17:18086180-18087309	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr17:18089289-18090247	IMR90	lung:	n/a	chr17:18089979-18089990
39	CEBPB	chr17:18086645-18087065	K562	blood:	n/a	n/a
40	CEBPD	chr17:18086152-18087464	HepG2	liver:	n/a	n/a
41	CHD1	chr17:18086161-18089744	GM12878	blood:	n/a	n/a
42	CHD1	chr17:18087735-18088403	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr17:18085856-18091134	IMR90	lung:	n/a	n/a
44	CHD1	chr17:18085568-18085914	GM12878	blood:	n/a	n/a
45	CHD2	chr17:18088313-18088474	HepG2	liver:	n/a	n/a
46	CHD2	chr17:18086298-18087420	HepG2	liver:	n/a	n/a
47	CHD2	chr17:18086275-18087340	K562	blood:	n/a	n/a
48	CHD2	chr17:18087732-18087884	HepG2	liver:	n/a	n/a
49	CHD2	chr17:18087883-18087969	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr17:18086185-18087441	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18086714-18086764	NB4	blood:	n/a
2	chr17:18086714-18086764	NB4	blood:	n/a
3	chr17:18086863-18086913	T-47D	breast:	n/a
4	chr17:18086714-18086764	GM12891	blood:	n/a
5	chr17:18088359-18088409	HIPEpiC	eye:	n/a
6	chr17:18087255-18087305	SAEC	small airway:	n/a
7	chr17:18088095-18088145	HPAEpiC	pulmonary alveolar:	n/a
8	chr17:18086721-18086771	HEK293	kidney:	embryo
9	chr17:18086889-18086939	PFSK-1	brain:	n/a
10	chr17:18086444-18086494	BE2_C	brain:	n/a
11	chr17:18088359-18088409	K562	blood:	n/a
12	chr17:18086721-18086771	GM12892	blood:	n/a
13	chr17:18086472-18086522	ECC-1	luminal epithelium:	n/a
14	chr17:18088095-18088145	SK-N-SH	brain:	n/a
15	chr17:18088549-18088599	GM19239	blood:	n/a
16	chr17:18086863-18086913	HCPEpiC	choroid plexus:	n/a
17	chr17:18086714-18086764	AG04449	skin:	fetal
18	chr17:18086559-18086609	GM19239	blood:	n/a
19	chr17:18087255-18087305	SK-N-MC	brain:	n/a
20	chr17:18088359-18088409	A549	lung:	n/a
21	chr17:18086837-18086887	HCM	heart:	n/a
22	chr17:18088549-18088599	A549	lung:	n/a
23	chr17:18086859-18086909	U87	brain:	n/a
24	chr17:18086559-18086609	NHDF-neo	bronchial:	n/a
25	chr17:18086472-18086522	ProgFib	skin:	n/a
26	chr17:18086837-18086887	BE2_C	brain:	n/a
27	chr17:18086859-18086909	HEEpiC	esophagus:	n/a
28	chr17:18086957-18087007	MCF10A-Er-Src	breast:	n/a
29	chr17:18086957-18087007	K562	blood:	n/a
30	chr17:18086472-18086522	HIPEpiC	eye:	n/a
31	chr17:18088359-18088409	AG09319	gingival:	n/a
32	chr17:18088095-18088145	GM19239	blood:	n/a
33	chr17:18086721-18086771	HMEC	breast:	n/a
34	chr17:18089245-18089295	NHBE	bronchial:	n/a
35	chr17:18086837-18086887	Hela-S3	cervix:	n/a
36	chr17:18086559-18086609	Jurkat	blood:	n/a
37	chr17:18086837-18086887	HCF	heart:	n/a
38	chr17:18087255-18087305	HCF	heart:	n/a
39	chr17:18089245-18089295	SK-N-SH_RA	brain:	n/a
40	chr17:18088549-18088599	HCM	heart:	n/a
41	chr17:18086472-18086522	H1-hESC	embryonic stem cell:	embryo
42	chr17:18088359-18088409	U87	brain:	n/a
43	chr17:18089245-18089295	PFSK-1	brain:	n/a
44	chr17:18086889-18086939	HNPCEpiC	eye:	n/a
45	chr17:18087580-18087630	K562	blood:	n/a
46	chr17:18086444-18086494	K562	blood:	n/a
47	chr17:18086859-18086909	MCF10A-Er-Src	breast:	n/a
48	chr17:18089245-18089295	HRPEpiC	eye:	n/a
49	chr17:18088549-18088599	AG04449	skin:	fetal
50	chr17:18088549-18088599	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:18087075..18087717-chr22:46692104..46692982,2	NB4	blood:
2	chr17:18086084..18087983-chr17:18217517..18220819,3	MCF-7	breast:
3	chr17:18088345..18089995-chr17:18161627..18163535,2	K562	blood:
4	chr17:18086032..18088176-chr17:18160313..18162937,3	K562	blood:
5	chr17:18088174..18090098-chr17:18107695..18110027,2	MCF-7	breast:
6	chr17:18085295..18087427-chr9:125026325..125027854,2	MCF-7	breast:
7	chr11:62608619..62609399-chr17:18085958..18086713,2	Hela-S3	cervix:
8	chr17:18085788..18088045-chr17:18160400..18163100,2	MCF-7	breast:
9	chr17:18086297..18088229-chr17:18161732..18163616,2	MCF-7	breast:
10	chr17:18063606..18070028-chr17:18081885..18087934,10	MCF-7	breast:
11	chr17:18089295..18091873-chr17:18217649..18220179,2	MCF-7	breast:
12	chr17:18085249..18088032-chr17:18163903..18166046,2	MCF-7	breast:
13	chr17:18086116..18088007-chr17:18126945..18129861,2	K562	blood:
14	chr17:18061742..18067292-chr17:18083221..18089651,7	K562	blood:
15	chr17:18057503..18062681-chr17:18084968..18089396,8	MCF-7	breast:
16	chr17:18085097..18087844-chr17:18150702..18152403,2	MCF-7	breast:
17	chr17:18088851..18092330-chr17:18106978..18109728,3	K562	blood:
18	chr16:70323147..70324094-chr17:18085792..18086327,2	Hela-S3	cervix:
19	chr17:18059406..18063498-chr17:18086302..18089651,4	K562	blood:
20	chr17:18085827..18086663-chr5:115177264..115177884,2	Hela-S3	cervix:
21	chr17:18057350..18061680-chr17:18083813..18088656,8	K562	blood:
22	chr17:18085197..18089449-chr17:18160313..18164902,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FLII-3	chr17:18088550-18088914	predAs_chen_AI570526_1
2	lnc-FLII-1	chr17:18087711-18087981	ENSG00000266677.1
3	lnc-FLII-1	chr17:18087711-18088067	ENSG00000246628

Variant related genes	Relation type
ALKBH5	TF binding region
ENSG00000266677	TF binding region
ALKBH5	CpG island
ENSG00000266677	CpG island
ENSG00000091536	chromatin interactions
ENSG00000119446	chromatin interactions
ENSG00000176994	chromatin interactions
ENSG00000091542	chromatin interactions
ENSG00000090861	chromatin interactions
ENSG00000075218	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000157349	chromatin interactions
ENSG00000148187	chromatin interactions
ENSG00000145782	chromatin interactions
ENSG00000131899	chromatin interactions
ENSG00000177302	chromatin interactions
ENSG00000177731	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000177427	chromatin interactions
IL12A	miRNA target sites

Extended variants
information (count: 161 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577160408	chr17:18085544-18085545	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs531827591	chr17:18085566-18085567	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs527633407	chr17:18085586-18085587	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs569392455	chr17:18085599-18085600	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs532612653	chr17:18085628-18085629	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs538441804	chr17:18085689-18085690	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs116816326	chr17:18085700-18085701	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs571385470	chr17:18085748-18085749	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs562617303	chr17:18085792-18085793	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs377712346	chr17:18085801-18085802	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs531724417	chr17:18085818-18085819	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs533837475	chr17:18085834-18085835	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs543966639	chr17:18085843-18085844	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs149836660	chr17:18085868-18085869	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs573557705	chr17:18085895-18085896	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs542601508	chr17:18085923-18085924	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs556433322	chr17:18085975-18085976	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs11656035	chr17:18086025-18086026	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529908804	chr17:18086029-18086030	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs544829050	chr17:18086042-18086043	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs4616338	chr17:18086144-18086145	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs564706911	chr17:18086168-18086169	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs533284921	chr17:18086173-18086174	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs373672697	chr17:18086226-18086227	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs546866998	chr17:18086259-18086260	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs75952048	chr17:18086290-18086291	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs560333700	chr17:18086295-18086296	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs373408149	chr17:18086306-18086307	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs370210402	chr17:18086332-18086333	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs529280738	chr17:18086335-18086336	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs373927642	chr17:18086371-18086372	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs532124550	chr17:18086376-18086377	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs569535557	chr17:18086387-18086388	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs532015272	chr17:18086398-18086399	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs552019324	chr17:18086409-18086410	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs571851436	chr17:18086451-18086452	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs533899501	chr17:18086461-18086462	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs553899111	chr17:18086491-18086492	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs78123366	chr17:18086495-18086496	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs374650339	chr17:18086537-18086538	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs536249133	chr17:18086560-18086561	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs552236280	chr17:18086570-18086571	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs576304295	chr17:18086575-18086576	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs199976799	chr17:18086590-18086591	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs544889901	chr17:18086636-18086637	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs34769216	chr17:18086701-18086702	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs558358916	chr17:18086716-18086717	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs368070273	chr17:18086765-18086766	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs540370050	chr17:18086780-18086781	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs74874812	chr17:18086790-18086791	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:161)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Smith-Magenis syndrome	22283845	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18062000-18085600	Weak transcription	Brain Angular Gyrus	brain
2	chr17:18076000-18086000	Weak transcription	Ovary	ovary
3	chr17:18083200-18085600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:18083200-18085600	Weak transcription	HSMMtube	muscle
5	chr17:18083400-18085600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:18084200-18085600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr17:18084400-18085600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr17:18084400-18085600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:18084400-18085600	Enhancers	Fetal Muscle Trunk	muscle
10	chr17:18084400-18085600	Enhancers	Fetal Muscle Leg	muscle
11	chr17:18084400-18085800	Enhancers	Fetal Thymus	thymus
12	chr17:18084400-18086000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:18084400-18086000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr17:18084600-18085600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:18084600-18085600	Enhancers	Colon Smooth Muscle	Colon
16	chr17:18084600-18085600	Enhancers	Fetal Stomach	stomach
17	chr17:18084600-18085600	Enhancers	NH-A	brain
18	chr17:18084600-18085800	Enhancers	HMEC	breast
19	chr17:18084800-18085600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr17:18084800-18085600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:18084800-18085600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:18084800-18085600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:18084800-18085600	Enhancers	NHEK	skin
24	chr17:18084800-18085800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:18084800-18085800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:18085000-18085600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:18085000-18085600	Enhancers	Liver	Liver
28	chr17:18085000-18085600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr17:18085000-18085600	Enhancers	Fetal Brain Male	brain
30	chr17:18085000-18085600	Enhancers	Left Ventricle	heart
31	chr17:18085000-18085600	Enhancers	Pancreas	Pancrea
32	chr17:18085000-18085600	Enhancers	Right Atrium	heart
33	chr17:18085000-18085800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:18085000-18085800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:18085000-18086000	Enhancers	Gastric	stomach
36	chr17:18085000-18086000	Flanking Active TSS	Dnd41	blood
37	chr17:18085000-18086000	Flanking Active TSS	K562	blood
38	chr17:18085200-18085600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:18085200-18085600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:18085200-18085600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:18085200-18085600	Enhancers	Brain Hippocampus Middle	brain
42	chr17:18085200-18085600	Enhancers	Fetal Intestine Large	intestine
43	chr17:18085200-18085600	Enhancers	Fetal Intestine Small	intestine
44	chr17:18085200-18085600	Enhancers	Placenta	Placenta
45	chr17:18085200-18085600	Enhancers	Right Ventricle	heart
46	chr17:18085200-18085800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr17:18085200-18085800	Enhancers	Primary hematopoietic stem cells	blood
48	chr17:18085200-18085800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr17:18085200-18085800	Enhancers	Stomach Mucosa	stomach
50	chr17:18085200-18086000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links