Variant report

Variant	rs7628353
Chromosome Location	chr3:194886912-194886913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194868150..194869712-chr3:194885612..194887618,2	K562	blood:
2	chr3:194885157..194887367-chr3:194945162..194946725,2	K562	blood:
3	chr3:194884939..194887943-chr3:194901496..194904644,3	K562	blood:
4	chr3:194886082..194888660-chr3:194907864..194909692,2	K562	blood:

Variant related genes	Relation type
ENSG00000230266	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11925335	0.84[GIH][hapmap]
rs12490970	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12496868	0.82[ASN][1000 genomes]
rs12631534	0.92[ASN][1000 genomes]
rs12634183	0.98[ASN][1000 genomes]
rs1961324	0.85[GIH][hapmap]
rs3796160	0.85[CEU][hapmap];0.85[GIH][hapmap]
rs6794662	0.89[ASN][1000 genomes]
rs9825199	0.85[CEU][hapmap];0.85[GIH][hapmap]
rs9826142	0.85[GIH][hapmap]
rs9830280	0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs9841564	0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs9856486	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
10	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
14	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
15	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194862400-194897800	Weak transcription	Dnd41	blood
2	chr3:194871400-194887400	Enhancers	Primary hematopoietic stem cells	blood
3	chr3:194874000-194889800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:194876600-194893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:194876800-194893800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:194877200-194891200	Weak transcription	Psoas Muscle	Psoas
7	chr3:194877400-194888600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:194877400-194888800	Weak transcription	Brain Germinal Matrix	brain
9	chr3:194880000-194887400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:194880800-194887200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:194881000-194888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:194881200-194887400	Enhancers	HUVEC	blood vessel
13	chr3:194881200-194888800	Weak transcription	NHEK	skin
14	chr3:194881400-194906000	Weak transcription	Hela-S3	cervix
15	chr3:194881600-194889200	Weak transcription	Esophagus	oesophagus
16	chr3:194881600-194892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:194881600-194893000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:194881600-194903000	Weak transcription	HSMM	muscle
19	chr3:194881800-194891000	Weak transcription	Right Ventricle	heart
20	chr3:194881800-194892800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:194881800-194893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:194881800-194893000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:194882000-194891800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:194882000-194904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:194883200-194891400	Weak transcription	Left Ventricle	heart
26	chr3:194883200-194891800	Weak transcription	Right Atrium	heart
27	chr3:194883400-194891000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:194883400-194899200	Weak transcription	Brain Angular Gyrus	brain
29	chr3:194883800-194893200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:194884200-194902400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:194884400-194901000	Weak transcription	Primary T cells from cord blood	blood
32	chr3:194884600-194891000	Weak transcription	Fetal Heart	heart
33	chr3:194884600-194891800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:194884600-194893000	Weak transcription	Fetal Thymus	thymus
35	chr3:194884800-194908800	Weak transcription	Thymus	Thymus
36	chr3:194885000-194887000	Flanking Active TSS	K562	blood
37	chr3:194885200-194902400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr3:194885400-194891200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:194885400-194891400	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:194885400-194891400	Weak transcription	Lung	lung
41	chr3:194885400-194892600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:194885400-194906600	Weak transcription	Gastric	stomach
43	chr3:194885600-194900600	Weak transcription	Ovary	ovary
44	chr3:194885800-194887000	Enhancers	GM12878-XiMat	blood
45	chr3:194885800-194887000	Flanking Active TSS	HepG2	liver
46	chr3:194885800-194890400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:194886200-194887000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr3:194886200-194889200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr3:194886400-194900400	Weak transcription	Primary B cells from cord blood	blood
50	chr3:194886600-194887000	Enhancers	Fetal Intestine Small	intestine

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