Variant report

Variant	rs73706950
Chromosome Location	chr7:87523791-87523792
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:87523007-87525886	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87523092..87524794-chr7:87529999..87532273,2	K562	blood:

Variant related genes	Relation type
DBF4	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10215700	1.00[EUR][1000 genomes]
rs10215973	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10226830	0.82[EUR][1000 genomes]
rs10226849	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10227951	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10230718	0.91[EUR][1000 genomes]
rs10232457	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10237097	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10237201	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10238564	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10239908	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10239922	0.95[EUR][1000 genomes]
rs10244734	0.87[EUR][1000 genomes]
rs10245767	1.00[EUR][1000 genomes]
rs10246786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247258	0.91[EUR][1000 genomes]
rs10252990	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10253106	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10259182	0.91[EUR][1000 genomes]
rs10260007	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10264856	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10268868	1.00[EUR][1000 genomes]
rs10269158	0.95[EUR][1000 genomes]
rs10276499	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10276819	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10952899	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532279	0.91[EUR][1000 genomes]
rs12532941	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533477	0.91[EUR][1000 genomes]
rs12539395	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12540032	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12669619	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13438651	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17149864	0.87[EUR][1000 genomes]
rs17150009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073985	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2106522	0.87[EUR][1000 genomes]
rs2157926	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2188527	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2188828	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2214101	0.87[EUR][1000 genomes]
rs2214106	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2285646	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2285649	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2373574	0.89[EUR][1000 genomes]
rs28437979	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28449219	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28449354	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28537604	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28546778	1.00[EUR][1000 genomes]
rs28627774	1.00[EUR][1000 genomes]
rs28642834	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28645115	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28774398	0.91[EUR][1000 genomes]
rs28831998	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58638862	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59058733	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465117	0.87[EUR][1000 genomes]
rs6948061	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6952943	1.00[EUR][1000 genomes]
rs6972098	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73706914	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73706916	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73706922	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73706924	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7790722	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7798074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7801337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655954	0.91[EUR][1000 genomes]
rs9655955	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976602	0.91[EUR][1000 genomes]
rs992422	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87506600-87534400	Weak transcription	Gastric	stomach
2	chr7:87506600-87535200	Weak transcription	Esophagus	oesophagus
3	chr7:87506600-87536800	Weak transcription	Lung	lung
4	chr7:87506600-87539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:87506600-87539600	Weak transcription	Pancreas	Pancrea
6	chr7:87506800-87540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:87507000-87536400	Weak transcription	Placenta	Placenta
8	chr7:87507200-87527000	Weak transcription	Liver	Liver
9	chr7:87507200-87528200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:87507200-87531800	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:87507200-87532400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:87507200-87534000	Weak transcription	Brain Angular Gyrus	brain
13	chr7:87507200-87537000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:87507200-87538400	Weak transcription	Adipose Nuclei	Adipose
15	chr7:87507200-87539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:87507600-87539400	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:87507800-87532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:87507800-87532400	Weak transcription	Brain Germinal Matrix	brain
19	chr7:87508000-87526600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:87508000-87530000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:87508000-87535400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:87508000-87535800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:87508000-87537400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:87508000-87538200	Weak transcription	Thymus	Thymus
25	chr7:87508200-87524600	Weak transcription	NHLF	lung
26	chr7:87508200-87530400	Weak transcription	Fetal Brain Male	brain
27	chr7:87508200-87537400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:87508200-87538400	Weak transcription	Fetal Brain Female	brain
29	chr7:87508200-87538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:87508200-87539000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:87508200-87539200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:87508200-87539400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:87508200-87539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:87508400-87526800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:87508400-87534200	Weak transcription	Small Intestine	intestine
36	chr7:87508400-87536000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:87508600-87526200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:87508600-87538600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:87508800-87538000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:87509000-87526600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:87509200-87532800	Weak transcription	Ovary	ovary
42	chr7:87509600-87527000	Weak transcription	Fetal Intestine Small	intestine
43	chr7:87510400-87526800	Weak transcription	Osteobl	bone
44	chr7:87510400-87538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:87511800-87537400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:87512200-87523800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:87512800-87537400	Strong transcription	Dnd41	blood
48	chr7:87513600-87531400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:87513600-87538000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:87514600-87527200	Weak transcription	Placenta Amnion	Placenta Amnion

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