Variant report

Variant	rs2051897
Chromosome Location	chr7:50853801-50853802
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10239980	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10272063	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10278363	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12665949	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12718928	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2051893	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2051894	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301925	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947861	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4947873	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947888	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593182	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7783789	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7794164	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808929	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7809357	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7809362	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50848000-50855200	Weak transcription	Hela-S3	cervix
2	chr7:50850800-50855400	Enhancers	Liver	Liver
3	chr7:50850800-50858600	Weak transcription	Aorta	Aorta
4	chr7:50851000-50854000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:50851000-50854400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:50851000-50856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:50851000-50859000	Weak transcription	NHLF	lung
8	chr7:50851200-50854800	Weak transcription	Esophagus	oesophagus
9	chr7:50851200-50855200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:50851200-50855600	Weak transcription	Primary T cells from cord blood	blood
11	chr7:50851200-50857000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:50851400-50855200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:50851400-50857800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:50851400-50858200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:50851600-50854800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:50851600-50856000	Weak transcription	A549	lung
17	chr7:50851600-50857600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:50851600-50857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:50851600-50857800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:50851600-50858200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:50851600-50858200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:50851600-50859000	Weak transcription	Osteobl	bone
23	chr7:50851800-50854000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:50852000-50854600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:50852000-50855200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:50852000-50858200	Weak transcription	Fetal Lung	lung
27	chr7:50852200-50855000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:50852200-50858200	Weak transcription	HSMMtube	muscle
29	chr7:50852400-50854600	Weak transcription	HUVEC	blood vessel
30	chr7:50852400-50855200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:50852400-50856200	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:50852600-50855200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:50852600-50855200	Weak transcription	K562	blood
34	chr7:50852600-50857600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:50852800-50854000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:50852800-50856200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:50853000-50857800	Weak transcription	NH-A	brain
38	chr7:50853200-50854000	Weak transcription	Brain Substantia Nigra	brain
39	chr7:50853200-50854600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:50853200-50855200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:50853400-50854400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:50853400-50854400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:50853400-50854400	Weak transcription	Right Atrium	heart
44	chr7:50853400-50854400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:50853400-50854400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:50853400-50854600	Weak transcription	Spleen	Spleen
47	chr7:50853400-50854800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:50853400-50854800	Weak transcription	Left Ventricle	heart
49	chr7:50853400-50854800	Weak transcription	Lung	lung
50	chr7:50853400-50855200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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