Variant report

Variant	rs274007
Chromosome Location	chr7:137646711-137646712
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137637389..137645547-chr7:137646408..137651556,14	MCF-7	breast:
2	chr7:137646686..137649675-chr7:137664959..137667243,4	MCF-7	breast:
3	chr7:137642477..137645042-chr7:137646430..137648183,3	MCF-7	breast:
4	chr7:137627790..137630235-chr7:137645055..137648680,3	K562	blood:
5	chr7:137646546..137650586-chr7:137681825..137685474,4	MCF-7	breast:
6	chr7:137644287..137647017-chr7:137655823..137657614,2	K562	blood:
7	chr7:137641810..137650191-chr7:137677657..137683130,9	K562	blood:

Variant related genes	Relation type
ENSG00000237243	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10275270	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.95[ASN][1000 genomes]
rs112417	0.81[CEU][hapmap]
rs12534066	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.92[ASN][1000 genomes]
rs273977	0.85[CEU][hapmap]
rs273981	0.81[CEU][hapmap];0.91[GIH][hapmap]
rs273984	0.81[CEU][hapmap]
rs273988	0.85[CEU][hapmap]
rs273989	0.81[CEU][hapmap];0.93[GIH][hapmap]
rs273990	0.81[CEU][hapmap]
rs273991	0.85[CEU][hapmap]
rs273995	0.85[CEU][hapmap];0.87[GIH][hapmap]
rs273996	0.85[CEU][hapmap];0.93[GIH][hapmap]
rs274002	0.85[CEU][hapmap];0.85[GIH][hapmap]
rs274006	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs274011	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274013	0.97[ASN][1000 genomes]
rs274014	0.94[ASN][1000 genomes]
rs58899905	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr7:137629400-137649600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:137635200-137663400	Weak transcription	Primary B cells from cord blood	blood
4	chr7:137635600-137650800	Weak transcription	Primary T cells from cord blood	blood
5	chr7:137636000-137650800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:137636200-137650600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:137637400-137646800	Weak transcription	Spleen	Spleen
8	chr7:137639000-137647200	Weak transcription	NHEK	skin
9	chr7:137639000-137654800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:137639200-137650600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:137639400-137652000	Weak transcription	Colonic Mucosa	Colon
12	chr7:137639400-137655000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:137639600-137650800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:137640000-137647600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:137640000-137654600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:137640200-137650000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:137640200-137651600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:137640600-137652400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:137640800-137647200	Weak transcription	Ovary	ovary
20	chr7:137641400-137647800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:137642200-137651600	Weak transcription	Fetal Heart	heart
22	chr7:137642400-137651800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:137642600-137647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:137642800-137647800	Weak transcription	Gastric	stomach
25	chr7:137642800-137648400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:137642800-137651400	Weak transcription	HSMMtube	muscle
27	chr7:137642800-137652000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:137642800-137652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:137643000-137648400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:137643000-137649000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:137643000-137652400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:137643600-137651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:137643600-137652200	Weak transcription	Liver	Liver
34	chr7:137643800-137651600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:137643800-137654800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:137644000-137647000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:137644000-137647200	Weak transcription	Fetal Lung	lung
38	chr7:137644000-137648000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:137644000-137650000	Weak transcription	HUVEC	blood vessel
40	chr7:137644000-137650600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:137644000-137650600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:137644000-137650600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:137644000-137652000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:137644000-137655400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:137644200-137647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:137644200-137647200	Weak transcription	Left Ventricle	heart
47	chr7:137644200-137647600	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:137644200-137651200	Weak transcription	Brain Substantia Nigra	brain
49	chr7:137644200-137651800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr7:137644200-137651800	Weak transcription	Psoas Muscle	Psoas

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