Variant report

Variant	rs2534874
Chromosome Location	chr7:84814418-84814419
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1003292	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1003293	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1016181	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1019204	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808059	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11978933	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12669993	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12704114	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465289	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473150	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473151	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648274	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011449	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159574	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2159580	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191483	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2191489	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372671	0.92[EUR][1000 genomes]
rs2429689	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534855	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534856	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534857	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534858	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2534859	0.81[AMR][1000 genomes]
rs2534861	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534862	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534863	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534864	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534868	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534870	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534871	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732747	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2732748	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732750	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732752	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2732759	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732760	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2732761	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732763	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727099	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs718413	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777999	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7779964	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780423	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798514	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs976479	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976480	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs976481	0.99[AMR][1000 genomes];0.97[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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84814000-84814600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:84814000-84814600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr7:84814000-84814600	Enhancers	Fetal Heart	heart
4	chr7:84814000-84814800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:84814000-84814800	Enhancers	Pancreas	Pancrea
6	chr7:84814000-84815000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
7	chr7:84814000-84816000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
8	chr7:84814000-84816000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr7:84814000-84816400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr7:84814000-84816400	Active TSS	Spleen	Spleen
11	chr7:84814200-84814600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr7:84814200-84814600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:84814200-84814600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:84814200-84814600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr7:84814200-84814600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr7:84814200-84814600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
17	chr7:84814200-84814600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:84814200-84814600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:84814200-84814600	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr7:84814200-84814600	Flanking Active TSS	Fetal Kidney	kidney
21	chr7:84814200-84814600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr7:84814200-84814600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:84814200-84814600	Flanking Active TSS	HMEC	breast
24	chr7:84814200-84814600	Flanking Active TSS	NHLF	lung
25	chr7:84814200-84814800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:84814200-84814800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
27	chr7:84814200-84815000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr7:84814200-84815000	Weak transcription	Lung	lung
29	chr7:84814200-84815200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:84814200-84815600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr7:84814200-84815600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:84814200-84815600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr7:84814200-84816000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr7:84814200-84816000	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr7:84814200-84816600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr7:84814200-84816600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr7:84814200-84816600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:84814200-84816600	Active TSS	Brain Cingulate Gyrus	brain
39	chr7:84814200-84816600	Active TSS	Stomach Smooth Muscle	stomach
40	chr7:84814200-84816800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr7:84814200-84816800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:84814200-84816800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
43	chr7:84814400-84814600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:84814400-84814600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:84814400-84814600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:84814400-84814600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:84814400-84814600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:84814400-84814600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
49	chr7:84814400-84814600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:84814400-84814600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--

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