Variant report

Variant	rs12633312
Chromosome Location	chr3:191058184-191058185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191047482..191049844-chr3:191056418..191059474,3	MCF-7	breast:
2	chr3:191045847..191048975-chr3:191057360..191059189,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188958	Chromatin interaction
ENSG00000152492	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11918771	0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12635242	0.89[CHB][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2028573	0.89[CHB][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28396104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627146	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60167114	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6444540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6444542	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66809497	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67382556	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6774730	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6797930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185212	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7636627	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7636707	0.89[CHB][hapmap];0.89[ASN][1000 genomes]
rs7640087	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648303	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs920032	0.89[EUR][1000 genomes]
rs9821594	1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9834749	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838011	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9838014	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9841435	0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs9860740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9985271	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191049000-191058600	Weak transcription	Left Ventricle	heart
2	chr3:191049200-191060600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:191049800-191061600	Weak transcription	HSMMtube	muscle
4	chr3:191050200-191060200	Weak transcription	Psoas Muscle	Psoas
5	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:191050600-191060400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:191051200-191060200	Weak transcription	Brain Substantia Nigra	brain
8	chr3:191051400-191058600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:191051400-191059400	Weak transcription	Right Atrium	heart
10	chr3:191051400-191060000	Weak transcription	Brain Germinal Matrix	brain
11	chr3:191051400-191060200	Weak transcription	Brain Anterior Caudate	brain
12	chr3:191051400-191060200	Weak transcription	Right Ventricle	heart
13	chr3:191052200-191062400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:191053200-191059200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:191054600-191058200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:191055000-191059200	Weak transcription	Adipose Nuclei	Adipose
17	chr3:191055400-191061800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:191055600-191062000	Enhancers	HepG2	liver
19	chr3:191055800-191058400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:191056000-191058400	Enhancers	Fetal Heart	heart
21	chr3:191056000-191058400	Enhancers	Rectal Smooth Muscle	rectum
22	chr3:191056000-191061000	Enhancers	Liver	Liver
23	chr3:191056200-191062200	Enhancers	Fetal Brain Male	brain
24	chr3:191056200-191063400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:191056400-191058400	Enhancers	Colon Smooth Muscle	Colon
26	chr3:191056400-191059200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:191056400-191060000	Weak transcription	HSMM	muscle
28	chr3:191056600-191059200	Weak transcription	A549	lung
29	chr3:191056800-191062000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:191057000-191058200	Enhancers	Fetal Brain Female	brain
31	chr3:191057000-191059800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:191057400-191058200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:191057400-191058200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:191057400-191059000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:191057400-191059000	Weak transcription	GM12878-XiMat	blood
36	chr3:191057400-191059400	Weak transcription	NHLF	lung
37	chr3:191057400-191062000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr3:191057600-191059400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr3:191057600-191060000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:191057600-191060400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:191057600-191060400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:191057600-191060400	Weak transcription	Primary B cells from cord blood	blood
43	chr3:191057600-191060800	Weak transcription	NH-A	brain
44	chr3:191057800-191058600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:191057800-191059200	Weak transcription	Small Intestine	intestine
46	chr3:191057800-191059200	Weak transcription	Osteobl	bone
47	chr3:191057800-191059800	Weak transcription	Fetal Lung	lung
48	chr3:191057800-191059800	Weak transcription	Hela-S3	cervix
49	chr3:191057800-191060200	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:191057800-191060400	Weak transcription	NHDF-Ad	bronchial

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