Variant report

Variant	rs7609043
Chromosome Location	chr2:86019374-86019375
allele	G/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:22)

rs_ID	r²[population]
rs1055770	1.00[CHB][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11679995	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682625	0.86[ASN][1000 genomes]
rs11682709	0.86[ASN][1000 genomes]
rs11691015	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001375	1.00[CHB][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13035450	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388951	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34027204	0.83[ASN][1000 genomes]
rs34117913	0.83[ASN][1000 genomes]
rs35074676	0.83[ASN][1000 genomes]
rs4832014	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832194	1.00[CHB][hapmap]
rs4832198	1.00[CHB][hapmap]
rs4832199	1.00[CHB][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs4832201	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55974755	0.83[ASN][1000 genomes]
rs71392945	0.83[ASN][1000 genomes]
rs748064	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576412	0.83[ASN][1000 genomes]
rs7609084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv979290	chr2:86015956-86029004	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
3	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:86013200-86023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:86013600-86023200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:86014000-86019600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:86014200-86023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:86015000-86019600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:86015200-86020000	Weak transcription	Liver	Liver
11	chr2:86015200-86020000	Weak transcription	Colonic Mucosa	Colon
12	chr2:86015400-86024800	Enhancers	Brain Angular Gyrus	brain
13	chr2:86015600-86020400	Genic enhancers	HSMM	muscle
14	chr2:86016000-86019600	Weak transcription	Gastric	stomach
15	chr2:86016000-86026200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:86016200-86022600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:86016800-86022000	Enhancers	NHLF	lung
18	chr2:86016800-86023600	Enhancers	Brain Anterior Caudate	brain
19	chr2:86016800-86024400	Enhancers	Fetal Brain Male	brain
20	chr2:86017000-86021200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:86017200-86019600	Weak transcription	Fetal Heart	heart
22	chr2:86017200-86020400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:86017200-86021200	Enhancers	Brain Hippocampus Middle	brain
24	chr2:86017200-86023400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:86017200-86024600	Enhancers	A549	lung
26	chr2:86017200-86024800	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:86017400-86019800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:86017400-86020600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:86017400-86020600	Enhancers	Ovary	ovary
30	chr2:86017400-86024800	Enhancers	Brain Substantia Nigra	brain
31	chr2:86017800-86020600	Enhancers	Right Atrium	heart
32	chr2:86017800-86020600	Enhancers	Right Ventricle	heart
33	chr2:86017800-86025200	Enhancers	Adipose Nuclei	Adipose
34	chr2:86018000-86019400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:86018200-86019600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:86018200-86019600	Weak transcription	Spleen	Spleen
37	chr2:86018400-86019800	Weak transcription	HepG2	liver
38	chr2:86018400-86020000	Weak transcription	Stomach Mucosa	stomach
39	chr2:86018400-86020400	Enhancers	Placenta	Placenta
40	chr2:86018600-86019400	Genic enhancers	Stomach Smooth Muscle	stomach
41	chr2:86018600-86019600	Weak transcription	Brain Germinal Matrix	brain
42	chr2:86018600-86020800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:86018600-86022200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:86018600-86024600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:86018800-86019400	Genic enhancers	Fetal Muscle Leg	muscle
46	chr2:86018800-86019600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:86018800-86020000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:86018800-86020400	Enhancers	Left Ventricle	heart
49	chr2:86018800-86020400	Enhancers	NH-A	brain
50	chr2:86018800-86021400	Enhancers	Placenta Amnion	Placenta Amnion

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