Variant report

Variant	rs4915547
Chromosome Location	chr1:197481282-197481283
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	chr1:197466870..197468517-chr1:197480625..197483174,2	K562	blood:
2	chr1:197473765..197476231-chr1:197480275..197482874,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10158300	1.00[AMR][1000 genomes]
rs1024920	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1028785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10494753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10494759	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs10737689	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10737690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10737691	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10754226	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[AMR][1000 genomes]
rs10801610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10801611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10801615	1.00[AMR][1000 genomes]
rs10922241	0.81[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10922245	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11810711	1.00[CEU][hapmap]
rs12089070	1.00[JPT][hapmap]
rs1359458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1362940	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1408841	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1421389	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1421396	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1421398	1.00[AMR][1000 genomes]
rs1558975	1.00[AMR][1000 genomes]
rs1570809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1582409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16841893	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1862011	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[AMR][1000 genomes]
rs1886627	1.00[AMR][1000 genomes]
rs1923757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1977330	1.00[AMR][1000 genomes]
rs2013617	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2146484	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2147771	1.00[AMR][1000 genomes]
rs2821124	1.00[CEU][hapmap]
rs3790737	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3902061	1.00[AMR][1000 genomes]
rs4244150	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4427436	1.00[AMR][1000 genomes]
rs4428919	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4477311	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4915243	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs4915548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428407	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6428408	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6428409	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662893	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6676028	0.86[AFR][1000 genomes]
rs6678240	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6678776	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6685459	0.82[AFR][1000 genomes]
rs7515671	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7519686	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543631	1.00[AMR][1000 genomes]
rs7553327	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs942050	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs981520	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521647	chr1:197464448-197529218	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv4010	chr1:197471463-197511397	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197467200-197499000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:197474000-197481600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:197475000-197484800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:197476800-197482600	Weak transcription	Hela-S3	cervix
5	chr1:197476800-197483400	Weak transcription	Small Intestine	intestine
6	chr1:197476800-197484600	Weak transcription	Fetal Intestine Large	intestine
7	chr1:197478000-197482200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:197478000-197483800	Weak transcription	Right Ventricle	heart
9	chr1:197478000-197541200	Weak transcription	Aorta	Aorta
10	chr1:197478200-197481800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:197478200-197482200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:197478200-197482600	Weak transcription	Lung	lung
13	chr1:197478600-197491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:197478800-197481400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:197478800-197481400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr1:197478800-197481600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:197478800-197481800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:197478800-197482000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:197478800-197482200	Strong transcription	Primary hematopoietic stem cells	blood
20	chr1:197479000-197481600	Weak transcription	Osteobl	bone
21	chr1:197479000-197482200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:197479000-197482200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:197479200-197481400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:197479200-197482000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:197479200-197482000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr1:197479600-197481400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:197479600-197482000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:197480000-197482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:197480000-197484600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:197480000-197489600	Weak transcription	Psoas Muscle	Psoas
31	chr1:197480000-197489800	Weak transcription	Brain Anterior Caudate	brain
32	chr1:197480000-197491000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:197480000-197535800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:197480200-197485400	Weak transcription	Thymus	Thymus
35	chr1:197480200-197485600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:197480200-197489200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:197480200-197541200	Weak transcription	Esophagus	oesophagus
38	chr1:197480200-197541200	Weak transcription	Fetal Thymus	thymus
39	chr1:197480400-197482200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:197480400-197482600	Weak transcription	K562	blood
41	chr1:197480400-197482800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:197480400-197484000	Weak transcription	Fetal Lung	lung
43	chr1:197480400-197485800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:197480400-197487200	Weak transcription	Ovary	ovary
45	chr1:197480400-197541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:197480600-197481400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:197480600-197482000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:197480600-197486800	Weak transcription	Fetal Brain Male	brain
49	chr1:197481000-197481400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:197481000-197507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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