Variant report

Variant	rs10922241
Chromosome Location	chr1:197477237-197477238
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	chr1:197468068..197470896-chr1:197476662..197478717,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10158300	1.00[AMR][1000 genomes]
rs1024920	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1028785	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10494759	1.00[AMR][1000 genomes]
rs10737689	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10737690	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10737691	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10754226	0.88[LWK][hapmap];1.00[AMR][1000 genomes]
rs10801610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10801611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10801615	1.00[AMR][1000 genomes]
rs10922245	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1359458	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1408841	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1421389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1421396	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1421398	1.00[AMR][1000 genomes]
rs1558975	1.00[AMR][1000 genomes]
rs1570809	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1582409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1862011	0.88[LWK][hapmap];1.00[AMR][1000 genomes]
rs1886627	1.00[AMR][1000 genomes]
rs1923757	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1977330	1.00[AMR][1000 genomes]
rs2013617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2147771	1.00[AMR][1000 genomes]
rs3790737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3902061	1.00[AMR][1000 genomes]
rs4427436	1.00[AMR][1000 genomes]
rs4477311	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4915243	1.00[AMR][1000 genomes]
rs4915547	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4915548	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428407	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6428408	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428409	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662893	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6676028	0.87[AFR][1000 genomes]
rs6678240	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6685459	0.83[AFR][1000 genomes]
rs7519686	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543631	1.00[AMR][1000 genomes]
rs7553327	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197467200-197499000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:197472200-197477800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:197473800-197479200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:197474000-197481600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:197475000-197484800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:197475200-197479000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:197475400-197478800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:197475800-197478200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:197476200-197479600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:197476400-197478000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:197476400-197478000	Weak transcription	Dnd41	blood
12	chr1:197476400-197478800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:197476600-197478200	Weak transcription	Primary B cells from cord blood	blood
14	chr1:197476600-197478200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:197476600-197478200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:197476600-197478800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:197476600-197479600	Weak transcription	Ovary	ovary
18	chr1:197476800-197477400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:197476800-197477400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:197476800-197478400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:197476800-197478400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:197476800-197479200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:197476800-197479200	Weak transcription	Fetal Lung	lung
24	chr1:197476800-197479200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:197476800-197479600	Weak transcription	Primary T cells from cord blood	blood
26	chr1:197476800-197479600	Weak transcription	Esophagus	oesophagus
27	chr1:197476800-197479600	Weak transcription	Left Ventricle	heart
28	chr1:197476800-197479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:197476800-197482600	Weak transcription	Hela-S3	cervix
30	chr1:197476800-197483400	Weak transcription	Small Intestine	intestine
31	chr1:197476800-197484600	Weak transcription	Fetal Intestine Large	intestine
32	chr1:197477000-197479000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:197477200-197478800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:197477200-197479200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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