Variant report

Variant	esv1828816
Chromosome Location	chr3:20136508-20389045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2244)
CpG islands
(count:1342)
Chromatin interactive
region (count:182)
LncRNA
region (count:18)
Mature miRNA
region (count: 1)
miRNA target
sites (count:14)

(count:2244 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20227329-20228186	K562	blood:	n/a	n/a
2	ARID3A	chr3:20361861-20362463	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:20267278-20267600	K562	blood:	n/a	n/a
4	ARID3A	chr3:20382933-20383181	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:20363620-20364094	K562	blood:	n/a	chr3:20363734-20363750
6	ARID3A	chr3:20227487-20228388	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:20371522-20371864	K562	blood:	n/a	n/a
8	ARID3A	chr3:20368591-20368761	K562	blood:	n/a	n/a
9	ARID3A	chr3:20366598-20367214	K562	blood:	n/a	n/a
10	ARID3A	chr3:20378141-20378394	K562	blood:	n/a	n/a
11	ARID3A	chr3:20362800-20363279	K562	blood:	n/a	n/a
12	ARID3A	chr3:20381827-20382195	K562	blood:	n/a	n/a
13	ARID3A	chr3:20364750-20365312	K562	blood:	n/a	n/a
14	ATF1	chr3:20366606-20366910	K562	blood:	n/a	n/a
15	ATF1	chr3:20226994-20228147	K562	blood:	n/a	n/a
16	ATF1	chr3:20364790-20365451	K562	blood:	n/a	n/a
17	ATF1	chr3:20346503-20346616	K562	blood:	n/a	n/a
18	ATF1	chr3:20145751-20146090	K562	blood:	n/a	n/a
19	ATF2	chr3:20145673-20146200	GM12878	blood:	n/a	n/a
20	ATF2	chr3:20145678-20146063	GM12878	blood:	n/a	n/a
21	ATF2	chr3:20167264-20167940	GM12878	blood:	n/a	n/a
22	ATF2	chr3:20288074-20288600	GM12878	blood:	n/a	n/a
23	ATF2	chr3:20288131-20288515	GM12878	blood:	n/a	n/a
24	ATF2	chr3:20385829-20386232	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr3:20227637-20228238	GM12878	blood:	n/a	n/a
26	ATF2	chr3:20167304-20167868	GM12878	blood:	n/a	n/a
27	ATF2	chr3:20227207-20228211	GM12878	blood:	n/a	n/a
28	ATF3	chr3:20227425-20228037	HepG2	liver:	n/a	n/a
29	ATF3	chr3:20227505-20227918	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF3	chr3:20227448-20228043	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF3	chr3:20227535-20227966	K562	blood:	n/a	n/a
32	ATF3	chr3:20227585-20227975	K562	blood:	n/a	n/a
33	ATF3	chr3:20227575-20227873	GM12878	blood:	n/a	n/a
34	ATF3	chr3:20227605-20227903	HepG2	liver:	n/a	n/a
35	ATF3	chr3:20227527-20228058	GM12878	blood:	n/a	n/a
36	BACH1	chr3:20363669-20363903	K562	blood:	n/a	n/a
37	BACH1	chr3:20381913-20382270	K562	blood:	n/a	n/a
38	BACH1	chr3:20197358-20197428	K562	blood:	n/a	n/a
39	BACH1	chr3:20366536-20366578	K562	blood:	n/a	n/a
40	BATF	chr3:20167468-20167777	GM12878	blood:	n/a	n/a
41	BATF	chr3:20277377-20277645	GM12878	blood:	n/a	n/a
42	BATF	chr3:20277379-20277647	GM12878	blood:	n/a	n/a
43	BATF	chr3:20288158-20288422	GM12878	blood:	n/a	chr3:20288290-20288301
44	BATF	chr3:20288183-20288438	GM12878	blood:	n/a	chr3:20288290-20288301
45	BATF	chr3:20167475-20167827	GM12878	blood:	n/a	chr3:20167811-20167819
46	BCL11A	chr3:20371437-20371693	H1-hESC	embryonic stem cell:	n/a	n/a
47	BCL11A	chr3:20288193-20288461	GM12878	blood:	n/a	n/a
48	BCL11A	chr3:20167426-20167745	GM12878	blood:	n/a	n/a
49	BCL11A	chr3:20288232-20288418	GM12878	blood:	n/a	n/a
50	BCL11A	chr3:20167373-20167761	GM12878	blood:	n/a	n/a

(count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20228976-20229026	RPTEC	kidney:	n/a
2	chr3:20227663-20227713	SK-N-MC	brain:	n/a
3	chr3:20227801-20227851	HIPEpiC	eye:	n/a
4	chr3:20227801-20227851	HCM	heart:	n/a
5	chr3:20227822-20227872	MCF-7	breast:	n/a
6	chr3:20227809-20227859	Caco-2	colon:	n/a
7	chr3:20227663-20227713	HRE	kidney:	n/a
8	chr3:20226964-20227014	HIPEpiC	eye:	n/a
9	chr3:20226994-20227044	PrEC	prostate:	n/a
10	chr3:20231061-20231111	HRCEpiC	kidney:	n/a
11	chr3:20371290-20371340	ProgFib	skin:	n/a
12	chr3:20183665-20183715	ovcar-3	ovarian:	n/a
13	chr3:20231061-20231111	SK-N-SH	brain:	n/a
14	chr3:20231061-20231111	HCT-116	colon:	n/a
15	chr3:20228976-20229026	LNCaP	prostate:	n/a
16	chr3:20321584-20321634	SK-N-SH_RA	brain:	n/a
17	chr3:20227091-20227141	HRE	kidney:	n/a
18	chr3:20371290-20371340	H1-hESC	embryonic stem cell:	embryo
19	chr3:20227663-20227713	T-47D	breast:	n/a
20	chr3:20227670-20227720	HRE	kidney:	n/a
21	chr3:20227822-20227872	HMEC	breast:	n/a
22	chr3:20371290-20371340	HCM	heart:	n/a
23	chr3:20227925-20227975	AG09309	skin:	n/a
24	chr3:20227516-20227566	HRE	kidney:	n/a
25	chr3:20227940-20227990	NHBE	bronchial:	n/a
26	chr3:20227670-20227720	GM12878	blood:	n/a
27	chr3:20321584-20321634	HNPCEpiC	eye:	n/a
28	chr3:20227516-20227566	U87	brain:	n/a
29	chr3:20226964-20227014	NB4	blood:	n/a
30	chr3:20227663-20227713	HEK293	kidney:	embryo
31	chr3:20227091-20227141	HEK293	kidney:	embryo
32	chr3:20231061-20231111	NB4	blood:	n/a
33	chr3:20183665-20183715	NT2-D1	testis:	n/a
34	chr3:20195067-20195117	HCM	heart:	n/a
35	chr3:20202403-20202453	AG10803	skin:	n/a
36	chr3:20226964-20227014	Jurkat	blood:	n/a
37	chr3:20226994-20227044	HEEpiC	esophagus:	n/a
38	chr3:20228976-20229026	HRE	kidney:	n/a
39	chr3:20227059-20227109	ProgFib	skin:	n/a
40	chr3:20321584-20321634	GM19239	blood:	n/a
41	chr3:20226964-20227014	HUVEC	blood vessel:	n/a
42	chr3:20223923-20223973	LNCaP	prostate:	n/a
43	chr3:20183665-20183715	HIPEpiC	eye:	n/a
44	chr3:20228976-20229026	SK-N-SH	brain:	n/a
45	chr3:20227516-20227566	IMR90	lung:	fetal
46	chr3:20227809-20227859	AG04449	skin:	fetal
47	chr3:20227516-20227566	MCF-7	breast:	n/a
48	chr3:20227940-20227990	BJ	skin:	n/a
49	chr3:20227822-20227872	GM06990	blood:	n/a
50	chr3:20227940-20227990	IMR90	lung:	fetal

(count:182 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:20212661..20217850-chr3:20224065..20229766,9	K562	blood:
2	chr3:20138975..20141320-chr3:20146365..20149046,3	K562	blood:
3	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
4	chr3:20080757..20082677-chr3:20192981..20195193,2	K562	blood:
5	chr3:20329415..20331770-chr3:20333391..20336112,2	K562	blood:
6	chr3:19985145..19990136-chr3:20225418..20228312,6	K562	blood:
7	chr3:20342900..20345810-chr3:20347041..20349478,2	K562	blood:
8	chr3:20154687..20157429-chr3:20160845..20162920,2	K562	blood:
9	chr3:20206092..20207782-chr3:20216460..20218892,2	K562	blood:
10	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
11	chr3:19987439..19992261-chr3:20226257..20229350,4	K562	blood:
12	chr3:20369262..20370826-chr3:20371574..20373222,2	K562	blood:
13	chr3:20215671..20219222-chr3:20225067..20228168,4	MCF-7	breast:
14	chr3:20216479..20218064-chr3:20218704..20221260,2	K562	blood:
15	chr3:20335611..20337962-chr3:20339317..20341435,2	K562	blood:
16	chr3:20053872..20056558-chr3:20225792..20227888,2	K562	blood:
17	chr1:167582674..167583549-chr3:20205708..20206218,2	MCF-7	breast:
18	chr3:20188934..20192869-chr3:20226143..20228338,3	MCF-7	breast:
19	chr3:20216479..20218064-chr3:20218704..20221260,2	K562	blood:
20	chr3:20225982..20227551-chr3:20349845..20352725,2	K562	blood:
21	chr3:20177373..20179838-chr3:20195136..20197383,2	K562	blood:
22	chr3:20375934..20377835-chr3:20379796..20382067,2	MCF-7	breast:
23	chr3:20342900..20345810-chr3:20347041..20349478,2	K562	blood:
24	chr3:20369262..20370826-chr3:20371574..20373222,2	K562	blood:
25	chr3:20201533..20203572-chr3:20204589..20206739,2	K562	blood:
26	chr3:20333199..20337962-chr3:20339317..20343120,4	K562	blood:
27	chr13:113841278..113842020-chr3:20226671..20227468,2	Hela-S3	cervix:
28	chr3:20147447..20149147-chr3:20152117..20154267,2	MCF-7	breast:
29	chr3:20161409..20163112-chr3:20165671..20167276,2	MCF-7	breast:
30	chr3:20240283..20242142-chr3:20254913..20256935,2	K562	blood:
31	chr3:20187588..20190106-chr3:20193535..20195392,3	K562	blood:
32	chr3:20316601..20319465-chr3:20319672..20321888,2	K562	blood:
33	chr3:20133592..20135375-chr3:20142503..20144573,2	K562	blood:
34	chr3:20375934..20377835-chr3:20379796..20382067,2	MCF-7	breast:
35	chr3:20227831..20229515-chr3:20229924..20231692,2	MCF-7	breast:
36	chr3:20363426..20365605-chr3:20367558..20369154,2	K562	blood:
37	chr3:20079527..20082964-chr3:20226742..20229620,4	K562	blood:
38	chr3:20195318..20197314-chr3:20202622..20204510,2	MCF-7	breast:
39	chr3:20381671..20382483-chr3:21592493..21593315,3	MCF-7	breast:
40	chr1:211431812..211432720-chr3:20227589..20228353,2	Hela-S3	cervix:
41	chr3:20352341..20352841-chr6:144261197..144261734,2	MCF-7	breast:
42	chr3:20358467..20362257-chr3:20366935..20370675,4	K562	blood:
43	chr3:20381763..20382471-chr3:21525223..21526354,4	MCF-7	breast:
44	chr3:20358544..20361265-chr3:20365566..20368705,3	K562	blood:
45	chr3:20144778..20146752-chr3:20150014..20154937,5	K562	blood:
46	chr3:20209340..20212001-chr3:20214407..20216140,2	K562	blood:
47	chr3:20346246..20348359-chr3:20361269..20362788,2	K562	blood:
48	chr3:20121220..20122803-chr3:20153116..20155641,2	MCF-7	breast:
49	chr3:20227937..20230614-chr3:20238703..20240365,2	K562	blood:
50	chr3:20200366..20203372-chr3:20209857..20212107,3	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-1	chr3:20227726-20230848	NONHSAT088617
2	lnc-KAT2B-5	chr3:20202876-20203154	l_2328_chr3:20202875-20210905_testes
3	lnc-KAT2B-2	chr3:20387152-20387274	XLOC_002595
4	lnc-KAT2B-1	chr3:20215778-20216017	ENSG00000237485.1
5	lnc-KAT2B-1	chr3:20227467-20227607	ENSG00000237485.1
6	lnc-PP2D1-2	chr3:20212535-20212759	NONHSAT088614
7	lnc-KAT2B-1	chr3:20227467-20227919	ENSG00000237485.1
8	lnc-KAT2B-2	chr3:20387517-20387558	XLOC_002595
9	lnc-KAT2B-2	chr3:20387156-20387558	NONHSAT088622
10	lnc-KAT2B-2	chr3:20387157-20387558	XLOC_002595
11	lnc-KAT2B-1	chr3:20215736-20216017	ENSG00000237485.1
12	lnc-KAT2B-6	chr3:20286533-20287951	NONHSAT088619
13	lnc-PP2D1-2	chr3:20211553-20212307	NONHSAT088614
14	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
15	lnc-KAT2B-2	chr3:20383960-20385528	XLOC_002595
16	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
17	lnc-KAT2B-5	chr3:20210846-20210905	l_2328_chr3:20202875-20210905_testes
18	lnc-KAT2B-1	chr3:20218709-20218742	ENSG00000237485.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3135a	chr3:20179066-20179087	MIMAT0015001

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KAT2B	hsa-miR-181a-5p	chr3:20194367-20194390
2	KAT2B	hsa-miR-25-3p	chr3:20195750-20195772
3	KAT2B	hsa-miR-92a-3p	chr3:20195750-20195772
4	KAT2B	hsa-miR-92a-3p	chr3:20195765-20195772
5	KAT2B	hsa-miR-93-5p	chr3:20195701-20195723
6	KAT2B	hsa-miR-93-5p	chr3:20194121-20194144
7	KAT2B	hsa-miR-93-5p	chr3:20194137-20194143
8	KAT2B	hsa-miR-106b-5p	chr3:20194123-20194144
9	KAT2B	hsa-miR-106b-5p	chr3:20195703-20195723
10	KAT2B	hsa-miR-106b-5p	chr3:20194137-20194143
11	KAT2B	hsa-miR-32-5p	chr3:20195750-20195772
12	KAT2B	hsa-miR-25-3p	chr3:20195765-20195772
13	KAT2B	hsa-miR-32-5p	chr3:20195765-20195772
14	KAT2B	hsa-miR-181b-5p	chr3:20194367-20194390

Variant related genes	Relation type
KAT2B	TF binding region
MIR3135A	TF binding region
RNU6-822P	TF binding region
ENSG00000231304	TF binding region
RNY4P22	TF binding region
SGOL1-AS1	TF binding region
SGOL1	TF binding region
KAT2B	CpG island
MIR3135A	CpG island
RNU6-822P	CpG island
ENSG00000231304	CpG island
RNY4P22	CpG island
SGOL1-AS1	CpG island
SGOL1	CpG island
ENSG00000266745	chromatin interactions
ENSG00000126226	chromatin interactions
ENSG00000163576	chromatin interactions
ENSG00000252442	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000103978	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000237485	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000234779	chromatin interactions
ENSG00000214013	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000229468	chromatin interactions
ENSG00000144566	chromatin interactions

Extended variants
information (count: 9164 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:9164 , 50 per page) page: 1 2 3 4 5 6 7 ... 184

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2293139	chr3:20136508-20136509	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558518908	chr3:20136524-20136525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565564809	chr3:20136548-20136549	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111502938	chr3:20136549-20136550	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576790893	chr3:20136587-20136588	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2293140	chr3:20136611-20136612	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2293141	chr3:20136645-20136646	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs149320266	chr3:20136667-20136668	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2293142	chr3:20136683-20136684	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187511076	chr3:20136696-20136697	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375207374	chr3:20136716-20136717	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369566336	chr3:20136719-20136720	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs367987625	chr3:20136772-20136773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192747064	chr3:20136890-20136891	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2293143	chr3:20136894-20136895	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375798522	chr3:20136925-20136926	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374907679	chr3:20136936-20136937	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76555635	chr3:20136946-20136947	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372430785	chr3:20136951-20136952	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12636856	chr3:20136959-20136960	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
21	rs568721863	chr3:20136969-20136970	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112256849	chr3:20136971-20136972	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367834653	chr3:20136978-20136979	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577590398	chr3:20137053-20137054	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551183521	chr3:20137059-20137060	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566334782	chr3:20137088-20137089	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537127751	chr3:20137113-20137114	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375575634	chr3:20137190-20137191	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113831913	chr3:20137204-20137205	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184009443	chr3:20137207-20137208	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539815685	chr3:20137224-20137225	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145176889	chr3:20137231-20137232	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574382422	chr3:20137236-20137237	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541769281	chr3:20137249-20137250	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs13083709	chr3:20137270-20137271	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs575385158	chr3:20137308-20137309	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs147168994	chr3:20137350-20137351	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs188693171	chr3:20137448-20137449	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs528591635	chr3:20137451-20137452	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs4586829	chr3:20137517-20137518	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562103579	chr3:20137521-20137522	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs148625837	chr3:20137593-20137594	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs115003419	chr3:20137594-20137595	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs569457836	chr3:20137602-20137603	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs533330544	chr3:20137618-20137619	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs192141152	chr3:20137647-20137648	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs4435663	chr3:20137669-20137670	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs184686386	chr3:20137701-20137702	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs142073414	chr3:20137729-20137730	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs567747290	chr3:20137739-20137740	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Prostate cancer	19363497	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:2727 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
3	chr3:20123000-20137000	Weak transcription	Spleen	Spleen
4	chr3:20123000-20138400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:20123000-20140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:20123000-20153000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:20123200-20136800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:20123200-20136800	Weak transcription	Brain Angular Gyrus	brain
9	chr3:20123200-20136800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:20123200-20137000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:20123200-20137200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:20123200-20137200	Weak transcription	Esophagus	oesophagus
13	chr3:20123200-20137200	Weak transcription	Fetal Heart	heart
14	chr3:20123200-20137200	Weak transcription	Left Ventricle	heart
15	chr3:20123200-20137200	Weak transcription	Psoas Muscle	Psoas
16	chr3:20123200-20137200	Weak transcription	Right Ventricle	heart
17	chr3:20123200-20137400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:20123200-20137400	Weak transcription	Gastric	stomach
19	chr3:20123200-20137400	Weak transcription	Pancreas	Pancrea
20	chr3:20123200-20138600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:20123200-20141000	Weak transcription	Stomach Mucosa	stomach
22	chr3:20123200-20153200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:20128200-20137400	Weak transcription	Aorta	Aorta
24	chr3:20128200-20137400	Weak transcription	Lung	lung
25	chr3:20128200-20175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:20129600-20137400	Weak transcription	Ovary	ovary
27	chr3:20131200-20137000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:20131200-20140200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:20131400-20137200	Weak transcription	Fetal Intestine Small	intestine
30	chr3:20131400-20137200	Weak transcription	Fetal Stomach	stomach
31	chr3:20131400-20140800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:20131600-20136800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:20131600-20137000	Weak transcription	Adipose Nuclei	Adipose
34	chr3:20131800-20153000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:20132000-20136800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:20132200-20136600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:20132200-20136800	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:20132200-20136800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr3:20132200-20137000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:20132200-20137000	Weak transcription	Fetal Lung	lung
41	chr3:20132200-20137600	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:20132200-20139600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:20132800-20136600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:20132800-20152400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr3:20133200-20137200	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:20133600-20137000	Weak transcription	Liver	Liver
47	chr3:20134000-20136800	Weak transcription	Fetal Intestine Large	intestine
48	chr3:20134000-20140200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:20134200-20140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:20134400-20140800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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