Variant report

Variant	rs2011449
Chromosome Location	chr7:84815099-84815100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1003292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1003293	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1016181	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1019204	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808059	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11978933	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12669993	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12704114	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465289	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473150	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473151	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648274	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159574	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2159580	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191483	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2191489	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372671	0.91[EUR][1000 genomes]
rs2429689	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534855	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534856	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534857	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534858	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2534861	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534862	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534863	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534864	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534868	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534871	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534874	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732747	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2732748	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732750	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732752	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2732759	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732760	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2732761	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732763	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727099	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs718413	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777999	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7779964	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780423	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798514	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs976479	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976480	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs976481	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv888645	chr7:84738495-84842884	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv888646	chr7:84754151-84905855	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84814000-84816000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
2	chr7:84814000-84816000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr7:84814000-84816400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:84814000-84816400	Active TSS	Spleen	Spleen
5	chr7:84814200-84815200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr7:84814200-84815600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr7:84814200-84815600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:84814200-84815600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
9	chr7:84814200-84816000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
10	chr7:84814200-84816000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:84814200-84816600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:84814200-84816600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:84814200-84816600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:84814200-84816600	Active TSS	Brain Cingulate Gyrus	brain
15	chr7:84814200-84816600	Active TSS	Stomach Smooth Muscle	stomach
16	chr7:84814200-84816800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr7:84814200-84816800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:84814200-84816800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
19	chr7:84814400-84815600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
20	chr7:84814400-84815600	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr7:84814400-84816400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:84814400-84816400	Active TSS	Brain Angular Gyrus	brain
23	chr7:84814400-84816400	Active TSS	Fetal Intestine Small	intestine
24	chr7:84814400-84816400	Active TSS	Fetal Lung	lung
25	chr7:84814400-84816400	Active TSS	Fetal Stomach	stomach
26	chr7:84814400-84816400	Active TSS	NH-A	brain
27	chr7:84814400-84816400	Active TSS	NHDF-Ad	bronchial
28	chr7:84814400-84816400	Active TSS	NHEK	skin
29	chr7:84814400-84816600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:84814400-84816600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:84814400-84816600	Active TSS	Brain Substantia Nigra	brain
32	chr7:84814400-84816800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:84814400-84816800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:84814400-84816800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:84814400-84816800	Active TSS	Aorta	Aorta
36	chr7:84814400-84816800	Active TSS	Right Atrium	heart
37	chr7:84814400-84817000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:84814400-84817000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:84814400-84817000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:84814600-84815200	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr7:84814600-84815200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
42	chr7:84814600-84815200	Bivalent/Poised TSS	Osteobl	bone
43	chr7:84814600-84815400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:84814600-84815400	Active TSS	Psoas Muscle	Psoas
45	chr7:84814600-84815600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:84814600-84815600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
47	chr7:84814600-84815800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
48	chr7:84814600-84815800	Bivalent Enhancer	Liver	Liver
49	chr7:84814600-84816000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:84814600-84816200	Active TSS	Ovary	ovary

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