Variant report

Variant	rs3782327
Chromosome Location	chr12:57442936-57442937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57441680..57443565-chr12:57457016..57459681,2	K562	blood:
2	chr12:57432223..57435386-chr12:57441665..57445560,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166866	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1800160	1.00[AFR][1000 genomes]
rs1800184	1.00[AFR][1000 genomes]
rs3024981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3024985	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35292422	1.00[AFR][1000 genomes]
rs7308208	1.00[CHB][hapmap]
rs7979451	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers 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	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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 target site	103 gene(s)	inside rSNPs	diseases
4	nsv899110	chr12:57422934-57472502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv899111	chr12:57438658-57472502	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57420400-57471800	Weak transcription	Gastric	stomach
2	chr12:57437000-57471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57439200-57443000	Enhancers	Thymus	Thymus
4	chr12:57439200-57443400	Enhancers	Fetal Thymus	thymus
5	chr12:57440000-57443000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:57440400-57448000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:57440400-57451800	Weak transcription	Aorta	Aorta
8	chr12:57440400-57463200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:57440800-57444000	Enhancers	Spleen	Spleen
10	chr12:57440800-57444200	Weak transcription	Brain Substantia Nigra	brain
11	chr12:57441000-57443000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:57441200-57450800	Weak transcription	HSMMtube	muscle
13	chr12:57441400-57445000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:57441600-57443000	Enhancers	Dnd41	blood
15	chr12:57441600-57444000	Active TSS	Rectal Smooth Muscle	rectum
16	chr12:57441800-57443000	Weak transcription	Small Intestine	intestine
17	chr12:57441800-57443200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:57441800-57452600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:57442000-57443600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:57442000-57444000	Active TSS	Colonic Mucosa	Colon
21	chr12:57442000-57444000	Active TSS	Fetal Intestine Large	intestine
22	chr12:57442000-57450400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:57442000-57450600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:57442000-57450600	Weak transcription	NH-A	brain
25	chr12:57442000-57452000	Weak transcription	Esophagus	oesophagus
26	chr12:57442200-57444000	Active TSS	Duodenum Mucosa	Duodenum
27	chr12:57442200-57444000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr12:57442200-57449800	Weak transcription	Primary T cells from cord blood	blood
29	chr12:57442200-57450400	Weak transcription	HMEC	breast
30	chr12:57442200-57450600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:57442200-57450600	Weak transcription	K562	blood
32	chr12:57442200-57450800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:57442200-57450800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:57442200-57450800	Weak transcription	GM12878-XiMat	blood
35	chr12:57442200-57451000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:57442200-57451000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:57442200-57451200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:57442200-57451800	Weak transcription	HSMM	muscle
39	chr12:57442200-57452200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:57442200-57452200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:57442200-57452400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:57442200-57471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:57442400-57443000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:57442400-57450800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:57442400-57450800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:57442400-57450800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:57442400-57450800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:57442400-57450800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:57442400-57451800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:57442400-57456200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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