Variant report

Variant	rs3213620
Chromosome Location	chr3:50380034-50380035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50376891..50380040-chr3:50387225..50390511,3	MCF-7	breast:
2	chr3:50339705..50341283-chr3:50377540..50380265,2	K562	blood:
3	chr3:50373715..50376793-chr3:50377375..50380061,4	MCF-7	breast:
4	chr3:50371739..50377775-chr3:50378206..50384768,10	MCF-7	breast:
5	chr3:50359840..50362158-chr3:50378433..50381036,4	MCF-7	breast:
6	chr3:50303166..50306016-chr3:50377616..50380162,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068001	Chromatin interaction
ENSG00000114395	Chromatin interaction
ENSG00000272104	Chromatin interaction
ENSG00000114388	Chromatin interaction
ENSG00000114378	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000232352	Chromatin interaction
ENSG00000012171	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2236985	1.00[MEX][hapmap]
rs916025	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
8	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
12	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
13	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
14	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
17	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
18	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
19	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
20	nsv590258	chr3:50368278-50381022	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
21	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 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	chr3:50376000-50380200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:50377000-50380200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr3:50378600-50383200	Weak transcription	Aorta	Aorta
4	chr3:50378600-50384800	Weak transcription	Dnd41	blood
5	chr3:50378800-50380600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr3:50378800-50382400	Weak transcription	Brain Angular Gyrus	brain
7	chr3:50378800-50382400	Weak transcription	Pancreas	Pancrea
8	chr3:50378800-50382600	Weak transcription	HUVEC	blood vessel
9	chr3:50378800-50382800	Weak transcription	Ovary	ovary
10	chr3:50378800-50382800	Weak transcription	HMEC	breast
11	chr3:50378800-50382800	Weak transcription	HSMMtube	muscle
12	chr3:50379000-50380200	Enhancers	Esophagus	oesophagus
13	chr3:50379000-50380400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:50379000-50380600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:50379000-50380600	Enhancers	Gastric	stomach
16	chr3:50379000-50382400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:50379000-50382400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:50379000-50382400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:50379000-50382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:50379000-50382600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:50379000-50382800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:50379000-50382800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:50379000-50382800	Weak transcription	Left Ventricle	heart
24	chr3:50379000-50382800	Weak transcription	Thymus	Thymus
25	chr3:50379000-50382800	Weak transcription	NHEK	skin
26	chr3:50379000-50383000	Weak transcription	Brain Substantia Nigra	brain
27	chr3:50379000-50386800	Weak transcription	Small Intestine	intestine
28	chr3:50379200-50380200	Enhancers	Primary hematopoietic stem cells	blood
29	chr3:50379200-50380200	Enhancers	Placenta	Placenta
30	chr3:50379200-50380400	Enhancers	Primary B cells from cord blood	blood
31	chr3:50379200-50380400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr3:50379200-50381200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:50379200-50381600	Enhancers	K562	blood
34	chr3:50379200-50382400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:50379200-50382400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:50379200-50382400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:50379200-50382400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:50379200-50382400	Weak transcription	Brain Anterior Caudate	brain
39	chr3:50379200-50382400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:50379200-50382600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:50379200-50382600	Weak transcription	Liver	Liver
42	chr3:50379200-50382600	Weak transcription	Colonic Mucosa	Colon
43	chr3:50379200-50382600	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:50379200-50382600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr3:50379200-50382600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr3:50379200-50382600	Weak transcription	NHLF	lung
47	chr3:50379200-50382600	Weak transcription	Osteobl	bone
48	chr3:50379200-50382800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:50379200-50382800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:50379200-50382800	Weak transcription	Placenta Amnion	Placenta Amnion

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