Variant report

Variant	rs7653474
Chromosome Location	chr3:196353777-196353778
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:196353697..196356386-chr3:196365232..196368201,3	K562	blood:
2	chr3:196350969..196354463-chr3:196357895..196360563,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232065	Chromatin interaction
ENSG00000174004	Chromatin interaction
ENSG00000163964	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28529075	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28664893	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34180254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35107793	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4605582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7617545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9816722	0.93[EUR][1000 genomes]
rs9826948	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9827118	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9853127	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882393	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196339600-196354800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:196347200-196354200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:196347400-196354000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:196347600-196354800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:196347600-196358200	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:196347600-196358400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:196347600-196358400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:196347600-196358400	Weak transcription	Fetal Intestine Small	intestine
9	chr3:196348400-196354800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:196348600-196354000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:196348600-196354800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:196350600-196358600	Weak transcription	Lung	lung
13	chr3:196350600-196358600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:196351200-196353800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:196351400-196354800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:196351400-196358400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:196351400-196358800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:196351600-196356400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:196351600-196357600	Weak transcription	K562	blood
20	chr3:196351600-196358400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:196351600-196358600	Weak transcription	Brain Angular Gyrus	brain
22	chr3:196351600-196358600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:196351800-196353800	Weak transcription	Brain Anterior Caudate	brain
24	chr3:196351800-196353800	Weak transcription	Dnd41	blood
25	chr3:196351800-196354000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:196351800-196356000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:196351800-196356600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:196351800-196358400	Enhancers	Fetal Thymus	thymus
29	chr3:196352000-196354800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:196352000-196356200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:196352000-196358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:196352000-196358800	Enhancers	Primary hematopoietic stem cells	blood
33	chr3:196352200-196354800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:196352200-196356000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:196352200-196356200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:196352200-196356800	Weak transcription	Thymus	Thymus
37	chr3:196352200-196358400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:196352200-196358600	Weak transcription	Brain Substantia Nigra	brain
39	chr3:196352400-196356200	Weak transcription	Primary T cells from cord blood	blood
40	chr3:196352400-196358200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:196352400-196358600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr3:196352400-196358600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:196352400-196358600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:196352400-196358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:196352600-196354000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr3:196352600-196354800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr3:196352600-196356000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr3:196352600-196358000	Weak transcription	Primary B cells from cord blood	blood
49	chr3:196352800-196355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:196352800-196356200	Enhancers	Monocytes-CD14+_RO01746	blood

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