Variant report

Variant	rs2237487
Chromosome Location	chr7:50753693-50753694
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13241205	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13243873	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1800504	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2214964	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237475	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237476	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237480	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237484	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237489	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240499	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2244351	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2244353	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244372	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2244480	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2282931	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2529408	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2529410	0.88[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2529412	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2715132	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs730652	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription 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 target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS 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 target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:50736600-50755200	Weak transcription	NHDF-Ad	bronchial
3	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50742200-50758200	Weak transcription	Brain Germinal Matrix	brain
5	chr7:50742200-50765200	Weak transcription	NHLF	lung
6	chr7:50742400-50755000	Weak transcription	Esophagus	oesophagus
7	chr7:50742400-50755000	Weak transcription	NH-A	brain
8	chr7:50742400-50755200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:50742600-50757000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:50742600-50762200	Weak transcription	Hela-S3	cervix
11	chr7:50742600-50763000	Weak transcription	HSMM	muscle
12	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
13	chr7:50742800-50756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:50742800-50757600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:50743000-50755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:50743000-50755200	Weak transcription	K562	blood
17	chr7:50743000-50756400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:50743200-50754600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:50743400-50754200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:50743800-50754600	Weak transcription	Fetal Brain Female	brain
21	chr7:50744400-50753800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:50745000-50754600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:50745600-50753800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:50745600-50761200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:50745800-50754800	Weak transcription	Fetal Brain Male	brain
26	chr7:50745800-50755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:50745800-50769600	Weak transcription	Gastric	stomach
28	chr7:50746000-50765200	Weak transcription	Stomach Mucosa	stomach
29	chr7:50746400-50758400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:50747000-50753800	Weak transcription	HSMMtube	muscle
31	chr7:50747600-50755200	Weak transcription	Ovary	ovary
32	chr7:50748000-50754600	Weak transcription	A549	lung
33	chr7:50748200-50758200	Weak transcription	Brain Anterior Caudate	brain
34	chr7:50749200-50753800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:50749800-50755400	Weak transcription	Fetal Heart	heart
36	chr7:50750000-50754800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:50750000-50756600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:50750200-50754800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:50750200-50755000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:50750200-50755000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:50750200-50755000	Weak transcription	Spleen	Spleen
43	chr7:50750200-50755200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:50750200-50755200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:50750200-50758600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:50751000-50754200	Enhancers	Placenta	Placenta
47	chr7:50751200-50754000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:50751600-50754000	Enhancers	HUVEC	blood vessel
49	chr7:50752000-50754600	Enhancers	Stomach Smooth Muscle	stomach
50	chr7:50752200-50753800	Enhancers	Duodenum Mucosa	Duodenum

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