Variant report

Variant	rs2108349
Chromosome Location	chr7:50786663-50786664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50785108..50787997-chr7:50788315..50791487,3	K562	blood:
2	chr7:50781516..50783338-chr7:50785082..50786881,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1019000	0.82[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1024531	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10258458	0.86[AMR][1000 genomes]
rs10264904	0.86[AMR][1000 genomes]
rs10265504	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10268643	0.86[AMR][1000 genomes]
rs10281065	0.85[AMR][1000 genomes]
rs10486761	0.86[AMR][1000 genomes]
rs11238297	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238310	0.86[AMR][1000 genomes]
rs11238311	0.86[AMR][1000 genomes]
rs11238313	0.86[AMR][1000 genomes]
rs11238315	0.85[AMR][1000 genomes]
rs11763072	0.87[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11763778	0.94[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11765762	0.94[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12668316	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13232029	0.80[AMR][1000 genomes]
rs13311390	0.86[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2058014	0.82[ASN][1000 genomes]
rs2074719	0.86[AMR][1000 genomes]
rs2074720	0.83[AMR][1000 genomes]
rs2074721	0.85[AMR][1000 genomes]
rs2074722	0.85[AMR][1000 genomes]
rs2074777	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2190502	0.82[ASN][1000 genomes]
rs2214963	0.82[ASN][1000 genomes]
rs2286152	0.86[AMR][1000 genomes]
rs2286154	0.86[AMR][1000 genomes]
rs2299153	0.82[ASN][1000 genomes]
rs2329489	0.82[ASN][1000 genomes]
rs2876846	0.86[AMR][1000 genomes]
rs3801000	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4521715	0.82[ASN][1000 genomes]
rs4947806	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6593164	0.85[AMR][1000 genomes]
rs6593173	0.85[AMR][1000 genomes]
rs6593174	0.84[AMR][1000 genomes]
rs6943153	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6945597	0.86[AMR][1000 genomes]
rs6946194	0.84[AMR][1000 genomes]
rs6951356	0.85[AMR][1000 genomes]
rs6960912	0.83[AMR][1000 genomes]
rs6966774	0.86[AMR][1000 genomes]
rs6967612	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6979369	0.85[AMR][1000 genomes]
rs734422	0.86[AMR][1000 genomes]
rs757773	0.86[AMR][1000 genomes]
rs757774	0.86[AMR][1000 genomes]
rs7785908	0.85[AMR][1000 genomes]
rs7785914	0.85[AMR][1000 genomes]
rs7793570	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7809623	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7809775	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs886700	0.86[AMR][1000 genomes]
rs933360	0.82[ASN][1000 genomes]

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:90 , 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	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:50773600-50788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:50774800-50789200	Weak transcription	NHLF	lung
8	chr7:50777600-50792600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:50778400-50789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:50778800-50786800	Enhancers	Right Atrium	heart
11	chr7:50780400-50788400	Enhancers	Pancreas	Pancrea
12	chr7:50780600-50795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:50780800-50801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:50781000-50787200	Enhancers	Lung	lung
16	chr7:50781000-50794800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:50781200-50789200	Weak transcription	Colonic Mucosa	Colon
18	chr7:50781200-50791200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:50781200-50795600	Weak transcription	NHDF-Ad	bronchial
20	chr7:50781200-50797600	Weak transcription	HSMMtube	muscle
21	chr7:50781200-50798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:50781400-50789400	Weak transcription	Ovary	ovary
23	chr7:50781600-50786800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:50781800-50786800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:50781800-50787600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:50781800-50789000	Weak transcription	Esophagus	oesophagus
27	chr7:50781800-50789400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:50782200-50788200	Enhancers	Stomach Mucosa	stomach
29	chr7:50782800-50787000	Enhancers	Psoas Muscle	Psoas
30	chr7:50782800-50788400	Enhancers	Gastric	stomach
31	chr7:50783000-50786800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:50783000-50789400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:50783000-50792000	Weak transcription	HSMM	muscle
34	chr7:50783200-50786800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:50783200-50787800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:50783200-50791000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:50783400-50787400	Weak transcription	Fetal Stomach	stomach
38	chr7:50783400-50789000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:50783400-50789400	Weak transcription	Placenta	Placenta
40	chr7:50783600-50790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:50783800-50790600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:50783800-50798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:50783800-50798400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:50784000-50789400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:50784000-50789600	Weak transcription	Aorta	Aorta
46	chr7:50784000-50799400	Weak transcription	Hela-S3	cervix
47	chr7:50784200-50786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:50784400-50787000	Enhancers	Brain Substantia Nigra	brain
49	chr7:50784600-50789000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:50784600-50789200	Weak transcription	Fetal Muscle Leg	muscle

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