Variant report

Variant	rs7617002
Chromosome Location	chr3:196413358-196413359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196330451..196332682-chr3:196412539..196415044,2	MCF-7	breast:
2	chr3:196228000..196230318-chr3:196411872..196414109,2	MCF-7	breast:
3	chr3:196294314..196296880-chr3:196412047..196413687,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174013	Chromatin interaction
ENSG00000185798	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59114665	1.00[EUR][1000 genomes]
rs60126648	1.00[EUR][1000 genomes]
rs73892919	1.00[EUR][1000 genomes]
rs73892931	1.00[EUR][1000 genomes]
rs7626116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9818888	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	55 gene(s)	inside rSNPs	diseases
2	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1003135	chr3:196348721-196738953	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv1013920	chr3:196370580-196452741	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1014526	chr3:196372422-196460169	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1008083	chr3:196374919-196460768	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv536897	chr3:196374919-196460768	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv878189	chr3:196379916-196452093	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv997965	chr3:196380144-196550222	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
16	nsv1009975	chr3:196407281-196549742	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196405200-196415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:196411400-196413600	Enhancers	Placenta	Placenta
3	chr3:196411400-196416800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:196411800-196414400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:196412200-196413400	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:196412200-196413400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:196412200-196413400	Weak transcription	K562	blood
8	chr3:196412200-196414200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr3:196412200-196415000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:196412200-196415000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:196412200-196415000	Weak transcription	Adipose Nuclei	Adipose
12	chr3:196412200-196415000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:196412200-196415000	Weak transcription	HMEC	breast
14	chr3:196412200-196415000	Weak transcription	NHDF-Ad	bronchial
15	chr3:196412200-196415200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:196412200-196415200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:196412200-196415200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:196412200-196415200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:196412200-196415200	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:196412200-196415400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:196412200-196415400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr3:196412200-196415400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:196412200-196417000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:196412200-196417200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:196412200-196421200	Weak transcription	Pancreas	Pancrea
26	chr3:196412200-196421800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:196412200-196438200	Weak transcription	Right Atrium	heart
28	chr3:196412400-196414000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr3:196412400-196415000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:196412400-196415000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:196412400-196415200	Weak transcription	Hela-S3	cervix
32	chr3:196412400-196415400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:196412400-196415400	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:196412400-196416000	Weak transcription	Dnd41	blood
35	chr3:196412400-196421200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:196412600-196413400	Weak transcription	Primary B cells from cord blood	blood
37	chr3:196412600-196414600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:196412600-196414800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr3:196412600-196415200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:196412600-196420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:196412600-196422200	Weak transcription	GM12878-XiMat	blood
42	chr3:196413000-196413400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:196413200-196413400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:196413200-196413600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:196413200-196413600	Enhancers	Osteobl	bone
46	chr3:196413200-196413800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:196413200-196414000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:196413200-196414000	Enhancers	Muscle Satellite Cultured Cells	--

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