Variant report

Variant	rs4915553
Chromosome Location	chr1:197519108-197519109
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10801618	0.87[AFR][1000 genomes]
rs1421392	1.00[AMR][1000 genomes]
rs2111933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2477064	1.00[AMR][1000 genomes]
rs2477068	1.00[AMR][1000 genomes]
rs2488408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3861932	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4382756	1.00[AMR][1000 genomes]
rs6679357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553626	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197478000-197541200	Weak transcription	Aorta	Aorta
2	chr1:197480000-197535800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:197480200-197541200	Weak transcription	Esophagus	oesophagus
4	chr1:197480200-197541200	Weak transcription	Fetal Thymus	thymus
5	chr1:197480400-197541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:197481400-197529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:197487800-197536000	Weak transcription	Fetal Lung	lung
8	chr1:197491600-197520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:197496200-197532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:197500600-197529400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:197502200-197531800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:197502400-197534600	Weak transcription	Fetal Intestine Large	intestine
13	chr1:197503200-197524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:197503200-197526400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:197503200-197541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:197503600-197535800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:197504200-197529000	Weak transcription	Fetal Intestine Small	intestine
18	chr1:197505400-197532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:197505600-197541000	Weak transcription	Pancreas	Pancrea
20	chr1:197506200-197526000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:197506400-197535800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:197506600-197537600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:197506800-197535600	Weak transcription	Primary B cells from cord blood	blood
24	chr1:197506800-197564600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:197508400-197522400	Weak transcription	Dnd41	blood
26	chr1:197508400-197602400	Weak transcription	Left Ventricle	heart
27	chr1:197508600-197528400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:197508600-197532200	Weak transcription	Primary T cells from cord blood	blood
29	chr1:197509000-197529600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:197509200-197529200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:197509200-197529600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:197509200-197535600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:197509200-197535600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr1:197509400-197536000	Weak transcription	Liver	Liver
35	chr1:197511400-197535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:197511800-197535600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:197512000-197529400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:197512800-197531400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:197513800-197535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:197514200-197535800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:197514400-197535800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:197518800-197524000	Weak transcription	NHEK	skin

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