Variant report

Variant	rs4947816
Chromosome Location	chr7:50790420-50790421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50790225..50792991-chr7:50795647..50797748,2	K562	blood:
2	chr7:50787237..50792773-chr7:50859512..50862102,5	K562	blood:
3	chr7:50785108..50787997-chr7:50788315..50791487,3	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10486758	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530497	0.91[AMR][1000 genomes]
rs12538863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17152083	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17449280	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17450294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546879	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547506	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547664	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17548938	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237482	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286155	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs41430449	0.95[AMR][1000 genomes]
rs4245558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947462	0.89[AMR][1000 genomes]
rs4947463	0.89[AMR][1000 genomes]
rs4947832	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4947834	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4947844	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4947854	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4947864	0.91[AMR][1000 genomes]
rs4947887	0.91[AMR][1000 genomes]
rs56118724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56200772	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57219566	0.89[AMR][1000 genomes]
rs58092690	0.91[AMR][1000 genomes]
rs58198279	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60210111	0.91[AMR][1000 genomes]
rs60767324	0.84[EUR][1000 genomes]
rs61250449	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61618565	0.91[AMR][1000 genomes]
rs73113830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73113855	0.95[AMR][1000 genomes]
rs73113860	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73113863	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73116822	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116823	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116829	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116888	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116890	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116898	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118808	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118814	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118816	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118836	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118841	0.93[ASN][1000 genomes]
rs73122773	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122790	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122793	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122798	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124705	0.93[ASN][1000 genomes]
rs73124711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757771	0.86[CHB][hapmap];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs757998	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791286	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:50772000-50791600	Weak transcription	K562	blood
4	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:50777600-50792600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:50780600-50795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:50780800-50801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:50781000-50794800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:50781200-50791200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:50781200-50795600	Weak transcription	NHDF-Ad	bronchial
12	chr7:50781200-50797600	Weak transcription	HSMMtube	muscle
13	chr7:50781200-50798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:50783000-50792000	Weak transcription	HSMM	muscle
15	chr7:50783200-50791000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:50783800-50790600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:50783800-50798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:50783800-50798400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:50784000-50799400	Weak transcription	Hela-S3	cervix
20	chr7:50784600-50791000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:50786600-50790600	Enhancers	Liver	Liver
22	chr7:50786800-50790600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:50786800-50795400	Weak transcription	Fetal Kidney	kidney
24	chr7:50787000-50792600	Weak transcription	Osteobl	bone
25	chr7:50787000-50797800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:50787000-50797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:50787000-50798600	Weak transcription	Brain Germinal Matrix	brain
28	chr7:50787000-50807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:50787800-50794800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:50787800-50798200	Weak transcription	HepG2	liver
31	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:50788200-50796200	Weak transcription	Small Intestine	intestine
33	chr7:50788800-50790800	Enhancers	Pancreas	Pancrea
34	chr7:50788800-50792200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr7:50789000-50790600	Enhancers	Duodenum Mucosa	Duodenum
36	chr7:50789000-50790600	Enhancers	Fetal Heart	heart
37	chr7:50789000-50791400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:50789200-50790600	Enhancers	Lung	lung
39	chr7:50789200-50791000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:50789200-50793000	Enhancers	Spleen	Spleen
41	chr7:50789400-50798600	Weak transcription	A549	lung
42	chr7:50789400-50811600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:50789600-50791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:50789600-50793200	Enhancers	Primary hematopoietic stem cells	blood
45	chr7:50789600-50794600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:50789600-50798200	Weak transcription	Brain Anterior Caudate	brain
47	chr7:50789600-50798400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:50789600-50807400	Weak transcription	Esophagus	oesophagus
49	chr7:50789800-50791400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:50789800-50791600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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