Variant report

Variant	rs7620996
Chromosome Location	chr3:111794391-111794392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111792644..111794499-chr3:111797268..111798908,2	K562	blood:
2	chr3:111792824..111796051-chr3:111796443..111799498,4	MCF-7	breast:
3	chr3:111792657..111794523-chr3:111799735..111802519,2	MCF-7	breast:
4	chr3:111792401..111798775-chr3:111803596..111811380,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114529	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1492488	0.86[CHD][hapmap]
rs168151	0.86[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.80[MKK][hapmap];0.82[ASN][1000 genomes]
rs16859130	1.00[GIH][hapmap]
rs16859132	1.00[GIH][hapmap]
rs16859217	0.86[CHD][hapmap]
rs16859233	0.85[CHD][hapmap]
rs16859259	0.86[CHD][hapmap]
rs16859261	0.86[CHD][hapmap]
rs55715811	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55753652	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55765202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55785728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55955608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55968036	0.98[ASN][1000 genomes]
rs56008240	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56060014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56154908	0.88[AFR][1000 genomes]
rs56173481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56188318	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs56235140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56238410	0.92[AFR][1000 genomes]
rs56404440	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56801397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57621014	0.98[ASN][1000 genomes]
rs57851365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58489543	1.00[ASN][1000 genomes]
rs58766302	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58840068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58899626	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59888587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60011279	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60031977	0.98[ASN][1000 genomes]
rs60032749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60100513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60504992	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60529752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60562037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60596183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60746737	0.98[ASN][1000 genomes]
rs61233651	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61250978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61574805	0.92[AFR][1000 genomes]
rs61729755	1.00[ASN][1000 genomes]
rs6438029	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6438030	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6765246	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6765524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6769390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6769595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6771394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6771530	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6787297	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.94[MKK][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6794018	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6794057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6794944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6806972	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856305	0.98[ASN][1000 genomes]
rs73856331	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856334	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73856338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856339	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73856340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856348	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73856349	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856351	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73856352	1.00[ASN][1000 genomes]
rs73856353	1.00[ASN][1000 genomes]
rs73856356	0.98[ASN][1000 genomes]
rs73856357	0.98[ASN][1000 genomes]
rs7621597	1.00[ASN][1000 genomes]
rs7649379	0.86[CHD][hapmap]
rs9755693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9755713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9755719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9756558	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9756806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755927	chr3:111794310-111834310	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111791600-111796600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr3:111791800-111794600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr3:111792400-111794800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr3:111792600-111794600	Flanking Active TSS	Osteobl	bone
5	chr3:111792600-111795200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:111792800-111794400	Enhancers	HSMMtube	muscle
7	chr3:111792800-111794400	Enhancers	NHDF-Ad	bronchial
8	chr3:111792800-111794400	Enhancers	NHLF	lung
9	chr3:111792800-111794600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:111792800-111794600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:111792800-111794600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:111792800-111794600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr3:111792800-111794800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr3:111792800-111794800	Enhancers	HUVEC	blood vessel
15	chr3:111793000-111794400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:111793200-111794400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:111793200-111794400	Enhancers	Aorta	Aorta
18	chr3:111793200-111794600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:111793200-111794600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:111793200-111795000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr3:111793200-111795400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:111793400-111794400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:111793400-111794600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:111793600-111794400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:111793600-111794400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:111793600-111794400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:111793600-111794400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:111793600-111794400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:111793600-111794600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:111793600-111794600	Flanking Active TSS	Thymus	Thymus
31	chr3:111793600-111794600	Flanking Active TSS	A549	lung
32	chr3:111793600-111796000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:111793800-111794400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:111793800-111794400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:111793800-111794400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr3:111793800-111794400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:111793800-111794400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:111793800-111794400	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr3:111793800-111794400	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr3:111793800-111794400	Enhancers	Pancreas	Pancrea
41	chr3:111793800-111794400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr3:111793800-111794400	Enhancers	Right Ventricle	heart
43	chr3:111793800-111794400	Enhancers	GM12878-XiMat	blood
44	chr3:111793800-111794400	Flanking Active TSS	HepG2	liver
45	chr3:111793800-111794400	Flanking Active TSS	HSMM	muscle
46	chr3:111793800-111794600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:111793800-111794600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:111793800-111794600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr3:111793800-111794600	Flanking Active TSS	Hela-S3	cervix
50	chr3:111793800-111794800	Enhancers	Primary T cells fromperipheralblood	blood

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