Variant report

Variant	rs4980529
Chromosome Location	chr11:63658077-63658078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63658023-63658175	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63580299..63582440-chr11:63655697..63658299,3	K562	blood:
2	chr11:63656662..63659982-chr11:63664623..63666885,3	MCF-7	breast:
3	chr11:63655390..63658583-chr11:63705235..63708313,3	K562	blood:
4	chr11:63604350..63606417-chr11:63656611..63659059,3	MCF-7	breast:
5	chr11:63578817..63581799-chr11:63656717..63658299,2	K562	blood:
6	chr11:63651375..63653899-chr11:63656306..63658749,2	K562	blood:

No data

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000110583	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10736731	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10751001	0.83[ASN][1000 genomes]
rs10792421	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10792422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10792423	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10897452	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10897453	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10897454	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231600	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11231606	0.84[EUR][1000 genomes]
rs11231624	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11231628	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11231637	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11231640	0.80[ASW][hapmap];0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231646	0.80[CHB][hapmap]
rs11605500	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12277481	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576275	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1486936	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1872772	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840079	0.89[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs320109	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3802941	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3850943	0.83[ASN][1000 genomes]
rs4143327	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4963433	0.83[ASN][1000 genomes]
rs4980503	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4980505	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980507	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980528	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980532	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4980533	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61604723	0.81[EUR][1000 genomes]
rs6421686	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6591825	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7105288	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7108375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7110843	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7118913	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7121067	0.90[EUR][1000 genomes]
rs7937314	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7939351	0.81[EUR][1000 genomes]
rs7944519	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7946503	0.81[EUR][1000 genomes]
rs7948656	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs923247	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs928948	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63652000-63659600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:63652200-63659400	Weak transcription	Fetal Brain Female	brain
3	chr11:63654200-63658400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr11:63654400-63658200	Enhancers	Lung	lung
5	chr11:63654400-63659000	Enhancers	Brain Angular Gyrus	brain
6	chr11:63654800-63664000	Weak transcription	Fetal Brain Male	brain
7	chr11:63655600-63658200	Flanking Active TSS	Colonic Mucosa	Colon
8	chr11:63655600-63658600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
9	chr11:63655800-63662200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:63655800-63662600	Weak transcription	HSMMtube	muscle
11	chr11:63655800-63664200	Weak transcription	NHDF-Ad	bronchial
12	chr11:63656000-63663400	Weak transcription	Fetal Heart	heart
13	chr11:63656200-63658600	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr11:63656200-63660800	Weak transcription	Hela-S3	cervix
15	chr11:63656200-63662400	Weak transcription	NHLF	lung
16	chr11:63656200-63663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:63656200-63663600	Weak transcription	Aorta	Aorta
18	chr11:63656200-63664000	Weak transcription	NH-A	brain
19	chr11:63656400-63658400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr11:63656400-63659200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:63656400-63660800	Weak transcription	A549	lung
22	chr11:63656400-63662200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:63656400-63662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:63656400-63662200	Weak transcription	Ovary	ovary
25	chr11:63656400-63662800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:63656400-63663400	Weak transcription	HSMM	muscle
27	chr11:63656400-63663400	Weak transcription	HUVEC	blood vessel
28	chr11:63656400-63665400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:63656600-63658200	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr11:63656600-63658200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr11:63656600-63658800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:63656600-63659200	Weak transcription	Brain Germinal Matrix	brain
33	chr11:63656600-63660400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:63656600-63662400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:63656600-63662400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:63656600-63662600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:63656600-63662600	Weak transcription	Osteobl	bone
38	chr11:63656600-63663800	Weak transcription	Fetal Kidney	kidney
39	chr11:63656800-63658200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:63656800-63658400	Enhancers	Spleen	Spleen
41	chr11:63656800-63659000	Strong transcription	Fetal Stomach	stomach
42	chr11:63656800-63659200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:63656800-63659600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:63656800-63659800	Enhancers	Pancreas	Pancrea
45	chr11:63656800-63660200	Genic enhancers	Brain Anterior Caudate	brain
46	chr11:63656800-63660800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:63656800-63660800	Weak transcription	Fetal Lung	lung
48	chr11:63656800-63662200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:63656800-63662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:63656800-63662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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