Variant report

Variant	rs7631487
Chromosome Location	chr3:53061190-53061191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53047316..53051698-chr3:53056732..53062167,5	MCF-7	breast:
2	chr3:53058305..53064318-chr3:53075790..53081540,9	K562	blood:
3	chr3:53059584..53062030-chr3:53075790..53077753,2	K562	blood:
4	chr3:53060296..53062382-chr3:53075868..53077771,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163935	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs28696085	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28719645	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3806693	1.00[ASN][1000 genomes]
rs55794978	1.00[ASN][1000 genomes]
rs55885034	1.00[ASN][1000 genomes]
rs56835905	1.00[ASN][1000 genomes]
rs57940327	1.00[ASN][1000 genomes]
rs58309671	1.00[ASN][1000 genomes]
rs58840385	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59224641	1.00[ASN][1000 genomes]
rs59515578	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60648378	1.00[ASN][1000 genomes]
rs60744886	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61285888	1.00[ASN][1000 genomes]
rs61437303	1.00[ASN][1000 genomes]
rs61438885	1.00[ASN][1000 genomes]
rs72965345	1.00[ASN][1000 genomes]
rs72965350	1.00[ASN][1000 genomes]
rs72965354	1.00[ASN][1000 genomes]
rs72965361	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965362	1.00[ASN][1000 genomes]
rs72965366	1.00[ASN][1000 genomes]
rs72965381	0.84[ASN][1000 genomes]
rs7628501	1.00[ASN][1000 genomes]
rs9819608	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9822686	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9852646	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv590321	chr3:53027983-53062661	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1823728	chr3:53046712-53080351	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53025600-53061600	Weak transcription	Lung	lung
2	chr3:53027600-53061600	Weak transcription	Liver	Liver
3	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
4	chr3:53033800-53065000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:53037000-53065000	Weak transcription	Fetal Intestine Small	intestine
6	chr3:53040800-53065000	Weak transcription	Fetal Intestine Large	intestine
7	chr3:53043800-53064800	Weak transcription	Stomach Mucosa	stomach
8	chr3:53044600-53065000	Weak transcription	Gastric	stomach
9	chr3:53045200-53061400	Weak transcription	Fetal Heart	heart
10	chr3:53045400-53061600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:53045800-53061400	Weak transcription	HepG2	liver
12	chr3:53048800-53077800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:53050600-53062000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:53052000-53064800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:53053000-53063600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:53053800-53061600	Weak transcription	Ovary	ovary
17	chr3:53054000-53070600	Weak transcription	Right Ventricle	heart
18	chr3:53054400-53064800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr3:53056600-53065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:53056600-53077800	Weak transcription	Fetal Stomach	stomach
21	chr3:53057400-53065000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:53057600-53061400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:53057800-53063600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:53057800-53063600	Weak transcription	Primary T cells from cord blood	blood
25	chr3:53057800-53063600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:53057800-53063800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:53057800-53064600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:53058000-53061200	Weak transcription	HUVEC	blood vessel
29	chr3:53058000-53062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:53058200-53061600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:53058400-53061200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr3:53058600-53061400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:53058600-53062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:53058600-53064800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:53059400-53062200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:53059800-53061400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:53059800-53061800	Enhancers	A549	lung
38	chr3:53060000-53061800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:53060000-53064800	Weak transcription	HMEC	breast
40	chr3:53060000-53065000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:53060000-53065000	Weak transcription	Dnd41	blood
42	chr3:53060000-53066000	Weak transcription	Right Atrium	heart
43	chr3:53060200-53063200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:53060400-53061600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr3:53060400-53062200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:53060400-53062200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:53060400-53062800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr3:53060400-53064800	Weak transcription	Primary B cells from cord blood	blood
49	chr3:53060600-53061200	Enhancers	Left Ventricle	heart
50	chr3:53060600-53061600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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