Variant report

Variant	rs274008
Chromosome Location	chr7:137647171-137647172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr7:137624395..137627192-chr7:137647019..137649301,2	K562	blood:
4	chr7:137642477..137645042-chr7:137646430..137648183,3	MCF-7	breast:
5	chr7:137627790..137630235-chr7:137645055..137648680,3	K562	blood:
6	chr7:137646546..137650586-chr7:137681825..137685474,4	MCF-7	breast:
7	chr7:137641810..137650191-chr7:137677657..137683130,9	K562	blood:
8	chr7:137647003..137649460-chr7:137685848..137689452,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182158	Chromatin interaction
ENSG00000237243	Chromatin interaction
ENSG00000122787	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs112417	0.81[JPT][hapmap]
rs273975	0.92[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs273977	0.81[JPT][hapmap]
rs273978	0.92[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs273979	0.86[JPT][hapmap]
rs273980	0.86[JPT][hapmap]
rs273981	0.81[JPT][hapmap]
rs273983	0.92[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs273984	0.81[JPT][hapmap]
rs273985	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs273987	0.86[JPT][hapmap]
rs273988	0.81[JPT][hapmap]
rs273989	0.81[JPT][hapmap]
rs273990	0.81[JPT][hapmap]
rs273991	0.86[JPT][hapmap]
rs273992	0.86[JPT][hapmap]
rs273994	0.92[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs273995	0.81[JPT][hapmap]
rs273998	0.92[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs273999	0.93[ASN][1000 genomes]
rs274000	0.92[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs274001	0.84[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs274002	0.81[JPT][hapmap]
rs274003	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs274004	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs274005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274012	0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs274015	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28634773	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9886131	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[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	chr7:137639000-137647200	Weak transcription	NHEK	skin
8	chr7:137639000-137654800	Weak transcription	Brain Angular Gyrus	brain
9	chr7:137639200-137650600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:137639400-137652000	Weak transcription	Colonic Mucosa	Colon
11	chr7:137639400-137655000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:137639600-137650800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:137640000-137647600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:137640000-137654600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:137640200-137650000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:137640200-137651600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:137640600-137652400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:137640800-137647200	Weak transcription	Ovary	ovary
19	chr7:137641400-137647800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:137642200-137651600	Weak transcription	Fetal Heart	heart
21	chr7:137642400-137651800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:137642600-137647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:137642800-137647800	Weak transcription	Gastric	stomach
24	chr7:137642800-137648400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:137642800-137651400	Weak transcription	HSMMtube	muscle
26	chr7:137642800-137652000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:137642800-137652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:137643000-137648400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:137643000-137649000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:137643000-137652400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:137643600-137651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:137643600-137652200	Weak transcription	Liver	Liver
33	chr7:137643800-137651600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:137643800-137654800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:137644000-137647200	Weak transcription	Fetal Lung	lung
36	chr7:137644000-137648000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:137644000-137650000	Weak transcription	HUVEC	blood vessel
38	chr7:137644000-137650600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:137644000-137650600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:137644000-137650600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:137644000-137652000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:137644000-137655400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:137644200-137647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:137644200-137647200	Weak transcription	Left Ventricle	heart
45	chr7:137644200-137647600	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:137644200-137651200	Weak transcription	Brain Substantia Nigra	brain
47	chr7:137644200-137651800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:137644200-137651800	Weak transcription	Psoas Muscle	Psoas
49	chr7:137644200-137652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:137644200-137652200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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