Variant report

Variant	rs9787394
Chromosome Location	chr1:172150500-172150501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911275	1.00[CEU][hapmap];0.84[CHB][hapmap];0.98[EUR][1000 genomes]
rs10911278	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11800007	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11800549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11800998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11801252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804505	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805471	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11810189	1.00[EUR][1000 genomes]
rs12240040	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17277134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17277295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17362060	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4644529	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6690462	1.00[EUR][1000 genomes]

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	nsv1000079	chr1:172146935-172230545	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 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	chr1:172146800-172152000	Enhancers	Fetal Intestine Small	intestine
2	chr1:172147400-172154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:172147600-172151200	Enhancers	Fetal Intestine Large	intestine
4	chr1:172148800-172152000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:172149000-172152800	Enhancers	Fetal Stomach	stomach
6	chr1:172149200-172150600	Enhancers	Brain Hippocampus Middle	brain
7	chr1:172149400-172150600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr1:172149400-172151000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:172149400-172151000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr1:172149400-172151600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:172149400-172152000	Enhancers	Fetal Heart	heart
12	chr1:172149600-172150800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr1:172149600-172151400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:172149600-172153600	Weak transcription	Small Intestine	intestine
15	chr1:172149800-172150600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:172149800-172150600	Flanking Active TSS	Fetal Kidney	kidney
17	chr1:172149800-172151000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:172149800-172151000	Active TSS	Primary T cells fromperipheralblood	blood
19	chr1:172149800-172151000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:172149800-172151000	Active TSS	Aorta	Aorta
21	chr1:172149800-172151000	Flanking Active TSS	Osteobl	bone
22	chr1:172149800-172151200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:172149800-172151200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:172149800-172151400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:172149800-172151600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:172149800-172151800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:172149800-172152000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:172150000-172150600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr1:172150000-172150600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:172150000-172150600	Active TSS	Brain Substantia Nigra	brain
31	chr1:172150000-172150600	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr1:172150000-172150600	Active TSS	GM12878-XiMat	blood
33	chr1:172150000-172150600	Enhancers	HSMMtube	muscle
34	chr1:172150000-172150800	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr1:172150000-172150800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:172150000-172150800	Active TSS	Brain Cingulate Gyrus	brain
37	chr1:172150000-172150800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr1:172150000-172150800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:172150000-172150800	Flanking Active TSS	Fetal Lung	lung
40	chr1:172150000-172150800	Active TSS	Fetal Muscle Trunk	muscle
41	chr1:172150000-172150800	Active TSS	Psoas Muscle	Psoas
42	chr1:172150000-172150800	Flanking Active TSS	HSMM	muscle
43	chr1:172150000-172151000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:172150000-172151000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:172150000-172151000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:172150000-172151000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:172150000-172151000	Active TSS	Right Atrium	heart
48	chr1:172150000-172151000	Flanking Active TSS	HUVEC	blood vessel
49	chr1:172150000-172151000	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr1:172150000-172151000	Flanking Active TSS	NHEK	skin

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