Variant report

Variant	rs3732414
Chromosome Location	chr3:119134391-119134392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:
2	chr3:119126605..119128685-chr3:119132241..119134737,2	K562	blood:
3	chr3:119134373..119135878-chr3:119140849..119143747,2	K562	blood:
4	chr3:119132282..119134747-chr3:119135512..119137174,2	MCF-7	breast:
5	chr3:119133389..119135165-chr3:119214613..119217502,2	K562	blood:

Variant related genes	Relation type
ENSG00000113845	Chromatin interaction
ENSG00000272662	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11539377	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11915398	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11916272	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11916344	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11916488	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11917446	0.85[EUR][1000 genomes]
rs11917642	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11918271	0.90[EUR][1000 genomes]
rs11919404	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11919541	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11919760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11921098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922005	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11923882	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925305	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16829840	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829878	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs16829888	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs503083	0.85[EUR][1000 genomes]
rs55696355	0.85[EUR][1000 genomes]
rs55853418	0.85[EUR][1000 genomes]
rs55968892	0.85[EUR][1000 genomes]
rs56149432	0.85[EUR][1000 genomes]
rs56195264	0.90[EUR][1000 genomes]
rs56413426	0.85[EUR][1000 genomes]
rs56710033	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57168946	0.85[EUR][1000 genomes]
rs57389809	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57935532	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58398719	0.85[EUR][1000 genomes]
rs58639515	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs58843212	0.85[EUR][1000 genomes]
rs58978800	0.85[EUR][1000 genomes]
rs59482964	0.85[EUR][1000 genomes]
rs60006470	0.85[EUR][1000 genomes]
rs6438533	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs6762095	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6763716	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6764495	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6775021	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6776387	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6777140	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6779137	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[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6783100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6796981	0.80[LWK][hapmap]
rs6802790	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808654	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6810215	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs716649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72952928	0.85[EUR][1000 genomes]
rs72952932	0.85[EUR][1000 genomes]
rs72952934	0.85[EUR][1000 genomes]
rs72952950	0.85[EUR][1000 genomes]
rs72970333	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72970352	0.90[EUR][1000 genomes]
rs73857028	0.85[EUR][1000 genomes]
rs7621149	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7626731	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7642119	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7642792	0.85[EUR][1000 genomes]
rs7650975	0.85[EUR][1000 genomes]
rs7653469	1.00[ASW][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats 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	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv3962	chr3:119094646-119135321	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv997290	chr3:119127141-119135667	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv822227	chr3:119133049-119135021	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
2	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
4	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:119098000-119136800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
7	chr3:119098600-119137400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:119102600-119134800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:119106800-119137400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:119109200-119136400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:119110200-119140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:119112000-119147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:119112200-119138800	Weak transcription	Colonic Mucosa	Colon
14	chr3:119113200-119140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:119113400-119138000	Strong transcription	Fetal Stomach	stomach
16	chr3:119119000-119138800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:119121200-119150000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:119121400-119135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:119121400-119136000	Weak transcription	Esophagus	oesophagus
20	chr3:119123000-119136200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr3:119124400-119134400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:119124600-119135000	Weak transcription	Brain Angular Gyrus	brain
23	chr3:119127000-119135200	Strong transcription	Fetal Muscle Leg	muscle
24	chr3:119127200-119138200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:119127600-119136200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr3:119128000-119135800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr3:119128200-119135000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:119128600-119137000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:119129000-119138400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:119130000-119135400	Weak transcription	Liver	Liver
31	chr3:119130200-119139200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:119130600-119137000	Weak transcription	HSMM	muscle
33	chr3:119130600-119137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:119130600-119138400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:119130800-119134400	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:119130800-119143600	Weak transcription	GM12878-XiMat	blood
37	chr3:119132000-119137600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:119132200-119135000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr3:119132200-119135200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:119132200-119136600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:119132400-119135000	Strong transcription	Aorta	Aorta
42	chr3:119132400-119135000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:119132400-119135200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:119132400-119135200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr3:119132400-119135200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:119132400-119135400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:119132400-119136200	Strong transcription	Primary T cells from cord blood	blood
48	chr3:119132400-119137800	Strong transcription	Osteobl	bone
49	chr3:119132600-119134400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr3:119132600-119134400	Strong transcription	Thymus	Thymus

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