Variant report

Variant	rs7596797
Chromosome Location	chr2:20541000-20541001
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	chr2:20531227..20533989-chr2:20538784..20541462,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10175853	0.85[JPT][hapmap]
rs10190763	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10192042	0.84[JPT][hapmap]
rs1043400	0.84[JPT][hapmap]
rs11096655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11679966	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11683916	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11686919	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11888357	0.84[JPT][hapmap]
rs11895228	0.88[JPT][hapmap]
rs11896241	0.84[JPT][hapmap]
rs2110409	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2160072	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs2348704	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs343163	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs343164	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs343165	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3771228	0.95[CEU][hapmap]
rs3796066	0.85[JPT][hapmap]
rs3821218	0.84[JPT][hapmap]
rs4666299	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666304	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4666305	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4666382	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4666383	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6531232	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6713329	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6730690	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6748274	0.84[JPT][hapmap]
rs6756819	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7355288	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7558833	0.84[JPT][hapmap]
rs7563245	0.84[JPT][hapmap]
rs9306890	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20523000-20547600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:20524400-20546400	Weak transcription	NH-A	brain
3	chr2:20526000-20544800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:20527800-20544800	Weak transcription	Placenta	Placenta
5	chr2:20527800-20548200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:20527800-20549200	Weak transcription	Aorta	Aorta
7	chr2:20528200-20546600	Weak transcription	Hela-S3	cervix
8	chr2:20528600-20546400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:20530800-20546200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:20531000-20544600	Weak transcription	Fetal Brain Male	brain
11	chr2:20531000-20549200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:20531200-20546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:20531400-20546400	Weak transcription	Fetal Kidney	kidney
14	chr2:20531400-20547800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:20531800-20547400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:20532000-20542200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:20532000-20547400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:20532400-20542400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:20532400-20545400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:20533000-20541800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:20533400-20543800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:20533800-20545200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:20533800-20549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:20534200-20542000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:20534400-20542000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:20534600-20542200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:20534800-20547400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:20535000-20545600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:20535000-20547400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:20535200-20546600	Weak transcription	NHEK	skin
31	chr2:20536200-20542000	Weak transcription	GM12878-XiMat	blood
32	chr2:20536200-20543600	Weak transcription	Fetal Stomach	stomach
33	chr2:20536200-20545000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:20536200-20545800	Weak transcription	Fetal Lung	lung
35	chr2:20536200-20546200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:20536200-20546200	Weak transcription	Brain Angular Gyrus	brain
37	chr2:20536200-20546400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:20536200-20546600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:20536200-20546600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:20536400-20546400	Weak transcription	Adipose Nuclei	Adipose
41	chr2:20536400-20547600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:20536600-20541600	Weak transcription	Ovary	ovary
43	chr2:20536600-20541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:20536600-20543000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:20536600-20543000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:20536600-20543400	Weak transcription	Esophagus	oesophagus
47	chr2:20536600-20543400	Weak transcription	Gastric	stomach
48	chr2:20536600-20543400	Weak transcription	Psoas Muscle	Psoas
49	chr2:20536600-20543400	Weak transcription	Spleen	Spleen
50	chr2:20536600-20543800	Weak transcription	Lung	lung

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