Variant report

Variant	rs1998711
Chromosome Location	chr1:197546093-197546094
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197544507..197547050-chr1:197552662..197555146,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10494756	0.82[EUR][1000 genomes]
rs10754228	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10801609	0.82[EUR][1000 genomes]
rs10801620	0.96[ASN][1000 genomes]
rs10922231	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10922236	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10922244	0.81[EUR][1000 genomes]
rs10922252	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10922259	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10922260	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10922266	0.96[ASN][1000 genomes]
rs1135810	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs12042609	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs12066841	0.84[ASN][1000 genomes]
rs1337166	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1345529	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1923759	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2111930	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs2111934	1.00[ASN][1000 genomes]
rs2287537	0.82[EUR][1000 genomes]
rs4026508	0.97[ASN][1000 genomes]
rs4026513	0.84[ASN][1000 genomes]
rs4026514	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4147323	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4274099	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs4282851	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4418639	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4604725	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs4611052	0.96[ASN][1000 genomes]
rs4915561	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs55995691	0.82[ASN][1000 genomes]
rs6428416	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs6667685	1.00[ASN][1000 genomes]
rs6688289	0.95[ASN][1000 genomes]
rs6691216	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7516153	0.97[ASN][1000 genomes]
rs7516334	0.81[ASN][1000 genomes]
rs7516481	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7523627	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7533766	0.86[ASN][1000 genomes]
rs7534863	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7548454	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs927510	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9633354	0.92[ASN][1000 genomes]
rs9787082	0.95[CHB][hapmap];0.95[JPT][hapmap]

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	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
2	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
3	nsv548872	chr1:197529218-197644581	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3397065	chr1:197545083-197637033	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr1:197506800-197564600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:197508400-197602400	Weak transcription	Left Ventricle	heart
3	chr1:197526800-197563000	Weak transcription	Osteobl	bone
4	chr1:197529800-197548800	Weak transcription	Right Ventricle	heart
5	chr1:197537000-197574600	Weak transcription	NHDF-Ad	bronchial
6	chr1:197537200-197548600	Weak transcription	Adipose Nuclei	Adipose
7	chr1:197537400-197550400	Weak transcription	Fetal Lung	lung
8	chr1:197537400-197602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:197537800-197550400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:197537800-197585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:197538000-197546800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:197538000-197554000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:197538600-197563600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:197538800-197548600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:197539000-197554400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:197539000-197556600	Weak transcription	Fetal Kidney	kidney
17	chr1:197540000-197554600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:197541800-197546800	Weak transcription	Aorta	Aorta
19	chr1:197541800-197549400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:197541800-197551000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:197541800-197566000	Weak transcription	Ovary	ovary
22	chr1:197541800-197602400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:197541800-197602600	Weak transcription	Fetal Thymus	thymus
24	chr1:197542000-197547400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:197542000-197547600	Weak transcription	Thymus	Thymus
26	chr1:197542000-197548800	Weak transcription	Fetal Stomach	stomach
27	chr1:197542000-197549000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:197542000-197549000	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:197542000-197550200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:197542000-197550200	Weak transcription	Fetal Intestine Large	intestine
31	chr1:197542000-197552200	Weak transcription	Primary T cells from cord blood	blood
32	chr1:197542000-197554000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:197542000-197555800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:197542000-197557000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:197542000-197559600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:197542000-197559800	Weak transcription	Liver	Liver
37	chr1:197542000-197568000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:197542000-197569200	Weak transcription	Pancreas	Pancrea
39	chr1:197542000-197571400	Weak transcription	Esophagus	oesophagus
40	chr1:197542000-197574400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:197542000-197609000	Weak transcription	Colonic Mucosa	Colon
42	chr1:197542000-197626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:197542600-197563200	Weak transcription	Fetal Heart	heart
44	chr1:197542800-197550400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:197544000-197553600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:197544000-197562000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:197544400-197547000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:197544400-197602400	Weak transcription	Primary B cells from cord blood	blood
49	chr1:197544600-197570000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:197544800-197547400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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