Variant report

Variant	rs2190497
Chromosome Location	chr7:50697185-50697186
allele	A/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	chr7:50697092-50697217	K562	blood:	n/a	n/a

Variant related genes	Relation type
GRB10	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1468449	0.85[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237449	0.93[EUR][1000 genomes]
rs2237451	0.93[EUR][1000 genomes]
rs2237461	0.92[EUR][1000 genomes]
rs2237466	0.92[EUR][1000 genomes]
rs2529393	0.92[CEU][hapmap];0.83[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529400	0.81[JPT][hapmap]
rs2529419	0.92[EUR][1000 genomes]
rs2529422	0.89[EUR][1000 genomes]
rs2529423	0.92[EUR][1000 genomes]
rs2529424	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2715096	0.92[EUR][1000 genomes]
rs2715102	0.81[JPT][hapmap]
rs2715105	0.81[JPT][hapmap]
rs2715109	0.90[EUR][1000 genomes]
rs2715117	1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2715118	0.81[JPT][hapmap]
rs2715127	0.93[EUR][1000 genomes]
rs2715143	0.92[EUR][1000 genomes]
rs6974769	0.92[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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
3	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
4	chr7:50681200-50699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:50682200-50699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:50682600-50698200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:50682600-50699400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:50682600-50704600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:50682800-50698800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:50683000-50700400	Weak transcription	A549	lung
13	chr7:50683400-50699600	Weak transcription	Colonic Mucosa	Colon
14	chr7:50683600-50700400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:50684200-50698400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:50685200-50700800	Weak transcription	Osteobl	bone
17	chr7:50687400-50700600	Enhancers	Fetal Heart	heart
18	chr7:50688400-50700600	Weak transcription	K562	blood
19	chr7:50689000-50699000	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:50689200-50697200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:50689200-50700400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:50691200-50697200	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:50693600-50700800	Weak transcription	NHDF-Ad	bronchial
24	chr7:50693600-50705400	Weak transcription	NH-A	brain
25	chr7:50694200-50729200	Weak transcription	Hela-S3	cervix
26	chr7:50694400-50700200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:50694600-50697200	Weak transcription	Spleen	Spleen
28	chr7:50694600-50699400	Weak transcription	Aorta	Aorta
29	chr7:50694600-50699400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:50694600-50700200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:50694600-50700400	Weak transcription	Ovary	ovary
32	chr7:50694600-50700600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:50694600-50707800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:50694600-50708400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:50694800-50700400	Weak transcription	HUVEC	blood vessel
36	chr7:50694800-50700800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:50694800-50701000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:50695000-50698000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:50695000-50700200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:50695000-50700200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:50695000-50700400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:50695000-50700800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:50695000-50701000	Enhancers	Left Ventricle	heart
44	chr7:50695000-50720600	Weak transcription	Primary T cells from cord blood	blood
45	chr7:50695200-50699000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:50695200-50699400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:50695200-50700200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:50695400-50697200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:50695400-50697800	Enhancers	HSMM	muscle
50	chr7:50695400-50700200	Weak transcription	Gastric	stomach

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