Variant report

Variant	rs274013
Chromosome Location	chr7:137651513-137651514
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137650809..137652670-chr7:137683631..137686274,2	K562	blood:
2	chr7:137619156..137621856-chr7:137650615..137653310,2	MCF-7	breast:
3	chr7:137637389..137645547-chr7:137646408..137651556,14	MCF-7	breast:
4	chr7:137650405..137652234-chr7:137652303..137653977,2	K562	blood:
5	chr7:137650568..137655149-chr7:137681332..137686254,5	K562	blood:
6	chr7:137635084..137637925-chr7:137650642..137652343,2	MCF-7	breast:
7	chr7:137650743..137652751-chr7:137656187..137658700,3	K562	blood:

Variant related genes	Relation type
ENSG00000237243	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10275270	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12534066	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs274006	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs274007	0.97[ASN][1000 genomes]
rs274011	1.00[ASN][1000 genomes]
rs274014	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4732276	0.86[CHB][hapmap]
rs58899905	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs889870	0.86[CHB][hapmap]

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:110 , 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	chr7:137635200-137663400	Weak transcription	Primary B cells from cord blood	blood
3	chr7:137639000-137654800	Weak transcription	Brain Angular Gyrus	brain
4	chr7:137639400-137652000	Weak transcription	Colonic Mucosa	Colon
5	chr7:137639400-137655000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:137640000-137654600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:137640200-137651600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:137640600-137652400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:137642200-137651600	Weak transcription	Fetal Heart	heart
10	chr7:137642400-137651800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:137642800-137652000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:137642800-137652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:137643000-137652400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:137643600-137651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:137643600-137652200	Weak transcription	Liver	Liver
16	chr7:137643800-137651600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:137643800-137654800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:137644000-137652000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:137644000-137655400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:137644200-137651800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:137644200-137651800	Weak transcription	Psoas Muscle	Psoas
22	chr7:137644200-137652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:137644200-137652200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:137644200-137652200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:137644200-137652200	Weak transcription	Stomach Mucosa	stomach
26	chr7:137644200-137653400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:137644400-137651800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:137646600-137652200	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:137646600-137657600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:137646800-137651800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:137647000-137651600	Weak transcription	NHDF-Ad	bronchial
32	chr7:137647000-137652000	Weak transcription	Spleen	Spleen
33	chr7:137647400-137651800	Weak transcription	Lung	lung
34	chr7:137647600-137653600	Enhancers	Placenta	Placenta
35	chr7:137647800-137651800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:137647800-137651800	Weak transcription	Fetal Stomach	stomach
37	chr7:137647800-137651800	Weak transcription	Left Ventricle	heart
38	chr7:137647800-137652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:137648000-137651600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:137648000-137651600	Weak transcription	Fetal Intestine Small	intestine
41	chr7:137648000-137651800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:137648000-137651800	Weak transcription	Gastric	stomach
43	chr7:137648000-137651800	Weak transcription	NHLF	lung
44	chr7:137648000-137652200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:137648200-137651600	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:137648600-137652400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:137648600-137652600	Weak transcription	NHEK	skin
48	chr7:137648800-137653400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:137649200-137652400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:137649800-137653000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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