Variant report

Variant	rs2081050
Chromosome Location	chr19:21211673-21211674
allele	C/T
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	NFIC	chr19:21210808-21212072	GM12878	blood:	n/a	n/a
2	IRF4	chr19:21211132-21211678	GM12878	blood:	n/a	n/a
3	RUNX3	chr19:21210732-21212091	GM12878	blood:	n/a	n/a
4	MEF2A	chr19:21210947-21211676	GM12878	blood:	n/a	chr19:21211082-21211096 chr19:21211077-21211098 chr19:21211084-21211093 chr19:21211083-21211094
5	FOXM1	chr19:21210997-21211682	GM12878	blood:	n/a	n/a
6	IRF4	chr19:21211156-21211684	GM12878	blood:	n/a	n/a
7	BCL11A	chr19:21210944-21211891	GM12878	blood:	n/a	chr19:21211460-21211469 chr19:21211459-21211468
8	MEF2A	chr19:21210812-21211730	GM12878	blood:	n/a	chr19:21211082-21211096 chr19:21211077-21211098 chr19:21211084-21211093 chr19:21211083-21211094
9	MEF2C	chr19:21210869-21211729	GM12878	blood:	n/a	chr19:21211082-21211096 chr19:21211077-21211098 chr19:21211084-21211093 chr19:21211083-21211094
10	ZNF384	chr19:21211304-21211678	GM12878	blood:	n/a	n/a
11	RUNX3	chr19:21210789-21211956	GM12878	blood:	n/a	n/a
12	PAX5	chr19:21211218-21211708	GM12878	blood:	n/a	n/a
13	CEBPB	chr19:21211118-21211724	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21204714..21207211-chr19:21209787..21213344,3	K562	blood:
2	chr19:21086946..21088802-chr19:21210415..21213328,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271598	TF binding region

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10164375	0.82[ASN][1000 genomes]
rs10401931	0.83[ASN][1000 genomes]
rs10405180	0.80[ASN][1000 genomes]
rs10405218	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10405406	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10406661	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10409844	0.86[ASN][1000 genomes]
rs10409877	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10410901	0.80[ASN][1000 genomes]
rs10411038	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10412267	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10412688	0.97[ASN][1000 genomes]
rs10413175	0.83[ASN][1000 genomes]
rs10413692	0.97[ASN][1000 genomes]
rs10413983	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10414134	0.83[ASN][1000 genomes]
rs10417165	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10418706	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10421819	0.85[ASN][1000 genomes]
rs10422193	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10423541	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10424283	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10425969	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10454116	0.86[AFR][1000 genomes]
rs11085424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11085431	0.80[ASN][1000 genomes]
rs11666640	0.86[ASN][1000 genomes]
rs11668795	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11670162	0.83[ASN][1000 genomes]
rs11671894	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11672142	0.86[ASN][1000 genomes]
rs12104220	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12104387	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12608706	0.81[ASN][1000 genomes]
rs12608931	0.85[ASN][1000 genomes]
rs12609005	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12609167	0.92[ASN][1000 genomes]
rs12609510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12609831	0.98[ASN][1000 genomes]
rs12611115	0.97[ASN][1000 genomes]
rs12973640	0.83[ASN][1000 genomes]
rs12974016	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12975789	0.98[ASN][1000 genomes]
rs12976796	0.94[ASN][1000 genomes]
rs12981855	0.85[ASN][1000 genomes]
rs1609441	0.83[ASN][1000 genomes]
rs1968523	0.83[ASN][1000 genomes]
rs1971815	0.81[ASN][1000 genomes]
rs2013048	0.83[ASN][1000 genomes]
rs2081052	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2081054	0.92[ASN][1000 genomes]
rs2081055	0.85[ASN][1000 genomes]
rs2081056	0.85[ASN][1000 genomes]
rs2081057	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082003	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2098681	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2099648	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2112803	0.85[ASN][1000 genomes]
rs2115493	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2164987	0.88[AMR][1000 genomes]
rs2164988	0.88[ASN][1000 genomes]
rs2164989	0.86[ASN][1000 genomes]
rs2358792	0.97[ASN][1000 genomes]
rs2358795	0.98[ASN][1000 genomes]
rs2358803	0.81[EUR][1000 genomes]
rs2884548	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35137761	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4255903	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4292035	0.95[ASN][1000 genomes]
rs4365405	0.97[ASN][1000 genomes]
rs4488591	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808273	0.82[ASN][1000 genomes]
rs4808275	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4809119	0.83[ASN][1000 genomes]
rs4809122	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62122564	0.85[ASN][1000 genomes]
rs62122565	0.85[ASN][1000 genomes]
rs6511175	0.83[ASN][1000 genomes]
rs6511179	0.84[ASN][1000 genomes]
rs6511181	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511183	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511184	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511185	0.81[AMR][1000 genomes]
rs6511186	0.83[ASN][1000 genomes]
rs6511188	0.83[ASN][1000 genomes]
rs6511190	0.89[EUR][1000 genomes]
rs6511191	0.80[ASN][1000 genomes]
rs6511192	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6511194	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6511195	0.80[ASN][1000 genomes]
rs6511196	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7246723	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7247413	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247553	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7248087	0.97[ASN][1000 genomes]
rs7248410	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7249283	0.86[ASN][1000 genomes]
rs7249736	0.83[ASN][1000 genomes]
rs7250169	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7252277	0.98[ASN][1000 genomes]
rs7253530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253950	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7254047	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7254053	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7254722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7254768	0.91[ASN][1000 genomes]
rs7254982	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7257481	0.83[ASN][1000 genomes]
rs7258195	0.83[ASN][1000 genomes]
rs7258409	0.83[ASN][1000 genomes]
rs7258477	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7258831	0.90[ASN][1000 genomes]
rs7259653	0.92[ASN][1000 genomes]
rs7260268	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7260600	0.83[ASN][1000 genomes]
rs741674	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs741676	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100599	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8101222	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8101412	0.83[ASN][1000 genomes]
rs8101461	0.80[ASN][1000 genomes]
rs8102966	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8103696	0.98[ASN][1000 genomes]
rs8103825	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8106801	0.83[ASN][1000 genomes]
rs8106923	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107638	0.80[ASN][1000 genomes]
rs8107982	0.86[ASN][1000 genomes]
rs8111827	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8112054	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8112216	0.86[ASN][1000 genomes]
rs8112500	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8182465	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9304980	0.86[ASN][1000 genomes]
rs9304982	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9941463	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204200-21224400	Weak transcription	Liver	Liver
2	chr19:21204200-21230400	Weak transcription	Gastric	stomach
3	chr19:21204400-21213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:21204400-21213400	Weak transcription	Esophagus	oesophagus
5	chr19:21204400-21213800	Weak transcription	Psoas Muscle	Psoas
6	chr19:21204400-21224000	Weak transcription	Aorta	Aorta
7	chr19:21204400-21224400	Weak transcription	Pancreas	Pancrea
8	chr19:21204400-21227200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:21204400-21229200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr19:21204400-21231600	Weak transcription	Colonic Mucosa	Colon
11	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
12	chr19:21204600-21227800	Weak transcription	Brain Angular Gyrus	brain
13	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
14	chr19:21205000-21213200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:21205400-21222800	Weak transcription	Fetal Brain Male	brain
16	chr19:21205600-21211800	Strong transcription	Fetal Muscle Leg	muscle
17	chr19:21205600-21219200	Weak transcription	Small Intestine	intestine
18	chr19:21205800-21213800	Weak transcription	Ovary	ovary
19	chr19:21205800-21216800	Weak transcription	HepG2	liver
20	chr19:21206000-21212000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:21206000-21212400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr19:21206200-21211800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:21206200-21217000	Weak transcription	Fetal Lung	lung
24	chr19:21206200-21218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr19:21206200-21218000	Weak transcription	NHLF	lung
26	chr19:21206200-21223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:21206200-21223600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:21206200-21226600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr19:21206400-21214800	Strong transcription	Fetal Thymus	thymus
31	chr19:21206400-21220200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:21206800-21211800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:21207200-21212400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:21207200-21216800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:21207200-21219200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:21207200-21222800	Weak transcription	Fetal Kidney	kidney
37	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
38	chr19:21207400-21224200	Weak transcription	Spleen	Spleen
39	chr19:21207400-21226600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:21207600-21212000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:21207600-21214400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:21208000-21212000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:21208000-21213200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:21208400-21216200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:21208400-21216800	Weak transcription	NHDF-Ad	bronchial
46	chr19:21208600-21216000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:21208600-21221200	Weak transcription	Fetal Intestine Small	intestine
48	chr19:21208600-21223000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:21208600-21230000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr19:21208800-21211800	Strong transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links