Variant report

Variant	rs3827807
Chromosome Location	chr8:8679385-8679386
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	GATA2	chr8:8679228-8679593	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8676467..8679551-chr8:8749550..8751180,3	K562	blood:
2	chr8:8678976..8682016-chr8:8748981..8752043,3	MCF-7	breast:

Variant related genes	Relation type
MFHAS1	TF binding region
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs10087633	0.82[EUR][1000 genomes]
rs10087742	0.82[EUR][1000 genomes]
rs10090152	0.89[EUR][1000 genomes]
rs10092600	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10092720	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10093872	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10094270	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10097574	0.89[YRI][hapmap]
rs10098636	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10099808	0.82[EUR][1000 genomes]
rs10100066	0.89[EUR][1000 genomes]
rs10103163	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs10103282	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs10105690	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10105920	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10109886	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110711	0.89[EUR][1000 genomes]
rs10112989	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10113326	0.91[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1039910	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1039911	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1039912	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10503392	0.88[ASN][1000 genomes]
rs11249892	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11774744	0.88[ASN][1000 genomes]
rs11774860	1.00[CHB][hapmap]
rs11775476	0.81[ASN][1000 genomes]
rs11775821	0.88[ASN][1000 genomes]
rs11775888	0.88[ASN][1000 genomes]
rs11776513	0.88[ASN][1000 genomes]
rs11776546	0.88[ASN][1000 genomes]
rs11776845	0.92[ASN][1000 genomes]
rs11778970	0.88[ASN][1000 genomes]
rs11779561	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11779565	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11780824	0.83[ASN][1000 genomes]
rs11781430	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs11781542	0.88[ASN][1000 genomes]
rs11781841	0.83[ASN][1000 genomes]
rs11783112	0.88[ASN][1000 genomes]
rs11784958	0.88[ASN][1000 genomes]
rs11906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11987146	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11987904	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11987924	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11997731	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11997763	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12155530	0.88[ASN][1000 genomes]
rs13252797	1.00[CHB][hapmap]
rs17154702	0.88[ASN][1000 genomes]
rs17154792	0.84[YRI][hapmap]
rs2427	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28402110	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28521727	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28583936	0.84[ASN][1000 genomes]
rs34473848	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34732488	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35457364	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35654766	0.92[ASN][1000 genomes]
rs3827808	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4840356	0.88[ASN][1000 genomes]
rs4840365	0.92[ASN][1000 genomes]
rs4841030	0.88[ASN][1000 genomes]
rs4841031	0.88[ASN][1000 genomes]
rs55736184	0.81[AFR][1000 genomes]
rs55816468	0.88[ASN][1000 genomes]
rs55874147	0.83[ASN][1000 genomes]
rs55971558	0.88[ASN][1000 genomes]
rs56007835	0.88[ASN][1000 genomes]
rs56091524	0.83[AFR][1000 genomes]
rs56152067	0.83[ASN][1000 genomes]
rs56188408	0.83[ASN][1000 genomes]
rs57301822	0.88[ASN][1000 genomes]
rs66564323	0.92[ASN][1000 genomes]
rs66618176	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67000451	0.92[ASN][1000 genomes]
rs67653033	0.92[ASN][1000 genomes]
rs67766414	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6985207	0.84[ASN][1000 genomes]
rs7002397	1.00[CHB][hapmap]
rs73198272	0.88[ASN][1000 genomes]
rs73198279	0.88[ASN][1000 genomes]
rs73198286	0.88[ASN][1000 genomes]
rs73198287	0.88[ASN][1000 genomes]
rs73198288	0.88[ASN][1000 genomes]
rs73198290	0.88[ASN][1000 genomes]
rs73201840	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7813355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7820324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7837843	0.82[EUR][1000 genomes]
rs7838012	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs964771	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs9987276	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv890338	chr8:8669622-8707970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv8249	chr8:8675403-8683649	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8637600-8679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:8655200-8680600	Weak transcription	Colonic Mucosa	Colon
3	chr8:8655600-8685600	Weak transcription	Fetal Brain Female	brain
4	chr8:8658400-8687200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:8660200-8684400	Weak transcription	HSMMtube	muscle
6	chr8:8662600-8683400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:8662800-8679800	Weak transcription	Brain Angular Gyrus	brain
8	chr8:8663400-8691800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:8663600-8681400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:8664000-8682400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:8664200-8681200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:8664200-8691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:8664400-8691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:8664600-8683200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:8667000-8680000	Weak transcription	Esophagus	oesophagus
16	chr8:8667200-8683600	Weak transcription	NHDF-Ad	bronchial
17	chr8:8667200-8685800	Weak transcription	Right Atrium	heart
18	chr8:8667200-8686200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:8667200-8699200	Weak transcription	Aorta	Aorta
20	chr8:8667200-8701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:8667400-8685400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:8667400-8686000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:8667400-8693400	Weak transcription	Small Intestine	intestine
24	chr8:8667600-8679400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:8667600-8679800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:8667600-8685800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:8667600-8701000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:8668200-8681400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:8668600-8679400	Weak transcription	Fetal Brain Male	brain
30	chr8:8668600-8679800	Weak transcription	Fetal Kidney	kidney
31	chr8:8670000-8679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:8670000-8701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:8670200-8682800	Weak transcription	Fetal Intestine Large	intestine
34	chr8:8670200-8701200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:8670400-8684200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:8670400-8685800	Weak transcription	Thymus	Thymus
37	chr8:8670400-8705400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:8670800-8692400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:8671000-8679600	Weak transcription	GM12878-XiMat	blood
40	chr8:8671000-8692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:8672000-8700200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:8673800-8679400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:8674800-8701800	Weak transcription	Primary T cells from cord blood	blood
44	chr8:8675200-8679400	Weak transcription	Brain Germinal Matrix	brain
45	chr8:8675200-8699000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:8675400-8685800	Weak transcription	Gastric	stomach
47	chr8:8675600-8679400	Weak transcription	Lung	lung
48	chr8:8675600-8680000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:8675600-8685400	Weak transcription	Ovary	ovary
50	chr8:8675600-8686000	Weak transcription	Pancreas	Pancrea

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