Variant report

Variant	rs2249157
Chromosome Location	chr7:111986673-111986674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1016274	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10224887	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10238141	0.81[JPT][hapmap]
rs10252741	0.95[ASN][1000 genomes]
rs10272976	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11763768	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs11768719	0.97[ASN][1000 genomes]
rs11773393	0.81[JPT][hapmap]
rs13230061	0.81[JPT][hapmap]
rs17159351	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2107117	0.88[CEU][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2188534	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2249151	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520470	0.85[ASN][1000 genomes]
rs2520474	0.85[ASN][1000 genomes]
rs2520475	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2520476	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2523039	0.81[JPT][hapmap]
rs28781733	0.96[ASN][1000 genomes]
rs28805003	0.96[ASN][1000 genomes]
rs28817601	0.96[ASN][1000 genomes]
rs3823514	0.97[ASN][1000 genomes]
rs3948719	0.81[CEU][hapmap];0.87[ASN][1000 genomes]
rs4730516	0.81[JPT][hapmap]
rs4730529	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56969420	0.81[ASN][1000 genomes]
rs66788052	0.96[ASN][1000 genomes]
rs6944662	0.91[ASN][1000 genomes]
rs6955231	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs735150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736771	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs7781261	0.97[ASN][1000 genomes]
rs7781393	0.97[ASN][1000 genomes]
rs7795336	0.81[JPT][hapmap]
rs7802828	0.83[CEU][hapmap]
rs886353	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv2762697	chr7:111983278-111988953	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
2	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
5	chr7:111963800-111987200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:111965800-111986800	Weak transcription	GM12878-XiMat	blood
7	chr7:111966000-111989600	Weak transcription	Gastric	stomach
8	chr7:111966400-111991400	Weak transcription	Esophagus	oesophagus
9	chr7:111966600-111989600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:111967600-111986800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:111977600-111991000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:111977800-111986800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:111978400-111987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:111978400-111989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:111978400-111990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:111978400-111990400	Weak transcription	Brain Germinal Matrix	brain
18	chr7:111978600-111990400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:111980800-111991400	Weak transcription	NHDF-Ad	bronchial
20	chr7:111981800-111987400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:111982000-111991400	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:111982400-111989200	Weak transcription	Fetal Stomach	stomach
23	chr7:111982600-111986800	Weak transcription	Brain Substantia Nigra	brain
24	chr7:111982600-111990800	Weak transcription	Fetal Brain Female	brain
25	chr7:111982800-111987200	Weak transcription	NHEK	skin
26	chr7:111982800-111997000	Weak transcription	HepG2	liver
27	chr7:111983400-111986800	Weak transcription	Fetal Kidney	kidney
28	chr7:111983600-111991400	Weak transcription	Osteobl	bone
29	chr7:111983800-111986800	Weak transcription	Fetal Thymus	thymus
30	chr7:111983800-111987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:111983800-111987000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:111983800-111987000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:111983800-111987400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:111983800-111988400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:111983800-111991000	Weak transcription	HSMM	muscle
36	chr7:111983800-111991200	Weak transcription	Brain Anterior Caudate	brain
37	chr7:111983800-111991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:111983800-111993200	Weak transcription	Fetal Heart	heart
39	chr7:111983800-112004600	Weak transcription	Pancreas	Pancrea
40	chr7:111984000-111986800	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:111984000-111986800	Weak transcription	Thymus	Thymus
42	chr7:111984000-111987000	Weak transcription	Fetal Intestine Large	intestine
43	chr7:111984000-111987200	Weak transcription	Primary T cells from cord blood	blood
44	chr7:111984000-111987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:111984000-111987600	Weak transcription	Right Ventricle	heart
46	chr7:111984000-111988000	Weak transcription	Aorta	Aorta
47	chr7:111984000-111988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:111984000-111989600	Weak transcription	Fetal Intestine Small	intestine
49	chr7:111984000-111990000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:111984000-111991400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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