Variant report

Variant	rs2190503
Chromosome Location	chr7:50742617-50742618
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	chr7:50534464..50537080-chr7:50740963..50742721,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004402	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1019002	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10216232	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1024532	0.80[EUR][1000 genomes]
rs1468449	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1548609	1.00[CEU][hapmap]
rs2011899	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2108350	1.00[CEU][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs2190497	0.90[JPT][hapmap]
rs2190501	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237469	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237481	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237488	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329492	0.89[EUR][1000 genomes]
rs2529400	1.00[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2529404	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2529407	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2529409	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715102	1.00[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715105	1.00[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715110	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715117	0.90[JPT][hapmap]
rs2715118	1.00[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715125	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715128	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715134	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715135	0.81[AFR][1000 genomes]
rs3800999	0.80[EUR][1000 genomes]
rs4947432	1.00[CEU][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs4947444	1.00[CEU][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs4947446	1.00[CEU][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs4947804	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4947835	0.81[EUR][1000 genomes]
rs4947836	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4947837	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4947866	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs6593140	1.00[CEU][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs6593142	1.00[CEU][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs6593171	0.80[EUR][1000 genomes]
rs6945302	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6973119	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6978627	0.81[EUR][1000 genomes]
rs757775	1.00[CEU][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs7791286	0.85[CEU][hapmap]
rs886821	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962508	1.00[CEU][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs977791	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs990358	1.00[CEU][hapmap];0.83[TSI][hapmap];0.80[EUR][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	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	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:50724200-50742800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:50730200-50744000	Weak transcription	Small Intestine	intestine
7	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:50731400-50743200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:50731800-50750000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:50732600-50749200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:50733200-50743600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:50734200-50743400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:50734200-50748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:50735400-50743000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:50735400-50744400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:50735800-50743200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:50735800-50745000	Weak transcription	Stomach Mucosa	stomach
18	chr7:50736000-50742800	Strong transcription	Fetal Stomach	stomach
19	chr7:50736000-50743200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:50736000-50743400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:50736000-50743600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:50736200-50743200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:50736600-50755200	Weak transcription	NHDF-Ad	bronchial
24	chr7:50737000-50742800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:50737000-50743000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:50737200-50742800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:50739000-50746400	Weak transcription	Ovary	ovary
29	chr7:50739600-50743000	Genic enhancers	Pancreas	Pancrea
30	chr7:50739600-50743200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:50739600-50743400	Strong transcription	Fetal Intestine Small	intestine
32	chr7:50739800-50742800	Weak transcription	Fetal Heart	heart
33	chr7:50740000-50743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:50740600-50743000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:50741000-50746000	Weak transcription	Thymus	Thymus
36	chr7:50741200-50743000	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr7:50741200-50743000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:50741400-50742800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:50741400-50742800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:50741400-50743000	Strong transcription	K562	blood
41	chr7:50741400-50743200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:50742000-50742800	Genic enhancers	Lung	lung
43	chr7:50742000-50743000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:50742000-50745800	Enhancers	Fetal Brain Male	brain
45	chr7:50742000-50753000	Weak transcription	Osteobl	bone
46	chr7:50742200-50742800	Weak transcription	Right Ventricle	heart
47	chr7:50742200-50742800	Strong transcription	Spleen	Spleen
48	chr7:50742200-50743000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:50742200-50743600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:50742200-50744400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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