Variant report

Variant	rs10265504
Chromosome Location	chr7:50786050-50786051
allele	A/G
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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1019000	0.87[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs11238297	1.00[ASN][1000 genomes]
rs11763072	0.95[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11763778	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11765762	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12668316	0.82[ASN][1000 genomes]
rs13311390	0.92[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1978208	0.81[CHD][hapmap]
rs2058014	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2074777	0.80[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2108349	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2190502	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2214963	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2237490	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2299153	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2329489	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4521715	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4947806	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6943153	0.82[CEU][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs6967612	0.82[ASN][1000 genomes]
rs7793570	0.83[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7809623	0.82[ASN][1000 genomes]
rs933360	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];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:87 , 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	chr7:50773800-50786600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:50774800-50789200	Weak transcription	NHLF	lung
9	chr7:50777600-50792600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:50778400-50789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:50778800-50786800	Enhancers	Right Atrium	heart
12	chr7:50780400-50786200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:50780400-50788400	Enhancers	Pancreas	Pancrea
14	chr7:50780600-50786400	Weak transcription	Osteobl	bone
15	chr7:50780600-50786600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:50780600-50795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:50780800-50801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:50781000-50786400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:50781000-50787200	Enhancers	Lung	lung
21	chr7:50781000-50794800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:50781200-50789200	Weak transcription	Colonic Mucosa	Colon
23	chr7:50781200-50791200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:50781200-50795600	Weak transcription	NHDF-Ad	bronchial
25	chr7:50781200-50797600	Weak transcription	HSMMtube	muscle
26	chr7:50781200-50798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:50781400-50786400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:50781400-50789400	Weak transcription	Ovary	ovary
29	chr7:50781600-50786800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:50781800-50786200	Weak transcription	Fetal Heart	heart
31	chr7:50781800-50786800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:50781800-50787600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:50781800-50789000	Weak transcription	Esophagus	oesophagus
34	chr7:50781800-50789400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:50782200-50788200	Enhancers	Stomach Mucosa	stomach
36	chr7:50782800-50787000	Enhancers	Psoas Muscle	Psoas
37	chr7:50782800-50788400	Enhancers	Gastric	stomach
38	chr7:50783000-50786800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:50783000-50789400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:50783000-50792000	Weak transcription	HSMM	muscle
41	chr7:50783200-50786800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:50783200-50787800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr7:50783200-50791000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:50783400-50786600	Weak transcription	A549	lung
45	chr7:50783400-50787400	Weak transcription	Fetal Stomach	stomach
46	chr7:50783400-50789000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:50783400-50789400	Weak transcription	Placenta	Placenta
48	chr7:50783600-50786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:50783600-50790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:50783800-50790600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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