Variant report

Variant	rs4143327
Chromosome Location	chr11:63658914-63658915
allele	A/G
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	GATA3	chr11:63658636-63658958	T-47D	breast:	n/a	n/a
2	POLR2A	chr11:63658834-63659094	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63656662..63659982-chr11:63664623..63666885,3	MCF-7	breast:
2	chr11:63604350..63606417-chr11:63656611..63659059,3	MCF-7	breast:
3	chr11:63654741..63658030-chr11:63658111..63661032,3	K562	blood:

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

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10736731	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10792421	0.90[EUR][1000 genomes]
rs10792422	0.92[EUR][1000 genomes]
rs10792423	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10897452	0.88[EUR][1000 genomes]
rs10897453	0.89[EUR][1000 genomes]
rs10897454	0.89[EUR][1000 genomes]
rs10897456	0.85[ASN][1000 genomes]
rs10897459	0.93[ASN][1000 genomes]
rs11231600	0.87[EUR][1000 genomes]
rs11231606	0.81[EUR][1000 genomes]
rs11231623	0.83[ASN][1000 genomes]
rs11231624	0.86[EUR][1000 genomes]
rs11231637	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231640	0.88[EUR][1000 genomes]
rs11231643	0.88[ASN][1000 genomes]
rs11605500	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12277481	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12418000	0.88[ASN][1000 genomes]
rs12576275	0.91[EUR][1000 genomes]
rs12786124	0.90[ASN][1000 genomes]
rs12792726	0.93[ASN][1000 genomes]
rs12793201	0.88[ASN][1000 genomes]
rs12794404	0.88[ASN][1000 genomes]
rs1486936	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1872772	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs224173	0.93[ASN][1000 genomes]
rs2318126	0.85[ASN][1000 genomes]
rs2840079	0.88[EUR][1000 genomes]
rs3019785	0.90[ASN][1000 genomes]
rs320109	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3802941	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs449047	0.85[ASN][1000 genomes]
rs454474	0.85[ASN][1000 genomes]
rs4980503	0.92[EUR][1000 genomes]
rs4980505	0.91[EUR][1000 genomes]
rs4980507	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4980528	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4980529	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4980530	0.90[ASN][1000 genomes]
rs4980532	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4980533	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61886128	0.81[ASN][1000 genomes]
rs6421686	0.89[EUR][1000 genomes]
rs6591825	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7102006	0.92[EUR][1000 genomes]
rs7105288	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7108375	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7110843	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7118913	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7121067	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7928919	0.85[ASN][1000 genomes]
rs7937314	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7944519	0.91[EUR][1000 genomes]
rs7948656	0.89[EUR][1000 genomes]
rs923247	0.92[EUR][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	chr11:63654400-63659000	Enhancers	Brain Angular Gyrus	brain
4	chr11:63654800-63664000	Weak transcription	Fetal Brain Male	brain
5	chr11:63655800-63662200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:63655800-63662600	Weak transcription	HSMMtube	muscle
7	chr11:63655800-63664200	Weak transcription	NHDF-Ad	bronchial
8	chr11:63656000-63663400	Weak transcription	Fetal Heart	heart
9	chr11:63656200-63660800	Weak transcription	Hela-S3	cervix
10	chr11:63656200-63662400	Weak transcription	NHLF	lung
11	chr11:63656200-63663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:63656200-63663600	Weak transcription	Aorta	Aorta
13	chr11:63656200-63664000	Weak transcription	NH-A	brain
14	chr11:63656400-63659200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:63656400-63660800	Weak transcription	A549	lung
16	chr11:63656400-63662200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:63656400-63662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:63656400-63662200	Weak transcription	Ovary	ovary
19	chr11:63656400-63662800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:63656400-63663400	Weak transcription	HSMM	muscle
21	chr11:63656400-63663400	Weak transcription	HUVEC	blood vessel
22	chr11:63656400-63665400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:63656600-63659200	Weak transcription	Brain Germinal Matrix	brain
24	chr11:63656600-63660400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:63656600-63662400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:63656600-63662400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:63656600-63662600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:63656600-63662600	Weak transcription	Osteobl	bone
29	chr11:63656600-63663800	Weak transcription	Fetal Kidney	kidney
30	chr11:63656800-63659000	Strong transcription	Fetal Stomach	stomach
31	chr11:63656800-63659200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:63656800-63659600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:63656800-63659800	Enhancers	Pancreas	Pancrea
34	chr11:63656800-63660200	Genic enhancers	Brain Anterior Caudate	brain
35	chr11:63656800-63660800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:63656800-63660800	Weak transcription	Fetal Lung	lung
37	chr11:63656800-63662200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:63656800-63662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:63656800-63662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:63656800-63662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:63656800-63663400	Weak transcription	Small Intestine	intestine
42	chr11:63656800-63665800	Weak transcription	Psoas Muscle	Psoas
43	chr11:63657000-63659400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr11:63657000-63660000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:63657000-63660400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:63657000-63662400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:63657000-63662400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:63657000-63662400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:63657000-63662600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:63657000-63670000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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