Variant report

Variant	rs6692898
Chromosome Location	chr1:197531315-197531316
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	chr1:197530060..197532285-chr1:197534124..197535773,2	K562	blood:
2	chr1:197525937..197528139-chr1:197530420..197533860,3	K562	blood:

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

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

rs_ID	r²[population]
rs10801618	0.82[AFR][1000 genomes]
rs1421392	1.00[AMR][1000 genomes]
rs2111933	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2477064	1.00[AMR][1000 genomes]
rs2477068	1.00[AMR][1000 genomes]
rs2488408	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3861932	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4382756	1.00[AMR][1000 genomes]
rs4915553	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679357	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553626	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	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

No data

Chromatin state (count:48 , 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	chr1:197487800-197536000	Weak transcription	Fetal Lung	lung
7	chr1:197496200-197532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:197502200-197531800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:197502400-197534600	Weak transcription	Fetal Intestine Large	intestine
10	chr1:197503200-197541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:197503600-197535800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:197505400-197532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:197505600-197541000	Weak transcription	Pancreas	Pancrea
14	chr1:197506400-197535800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:197506600-197537600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:197506800-197535600	Weak transcription	Primary B cells from cord blood	blood
17	chr1:197506800-197564600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:197508400-197602400	Weak transcription	Left Ventricle	heart
19	chr1:197508600-197532200	Weak transcription	Primary T cells from cord blood	blood
20	chr1:197509200-197535600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:197509200-197535600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:197509400-197536000	Weak transcription	Liver	Liver
23	chr1:197511400-197535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:197511800-197535600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:197512800-197531400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:197513800-197535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:197514200-197535800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:197514400-197535800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:197522800-197535600	Weak transcription	Dnd41	blood
30	chr1:197523000-197532400	Weak transcription	Adipose Nuclei	Adipose
31	chr1:197525400-197541200	Weak transcription	Ovary	ovary
32	chr1:197526800-197531800	Weak transcription	NHEK	skin
33	chr1:197526800-197535000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:197526800-197535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:197526800-197563000	Weak transcription	Osteobl	bone
36	chr1:197527000-197531400	Weak transcription	NH-A	brain
37	chr1:197527000-197535800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:197529200-197533600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:197529400-197532400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr1:197529400-197533000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:197529600-197541400	Weak transcription	Colonic Mucosa	Colon
42	chr1:197529800-197536400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:197529800-197548800	Weak transcription	Right Ventricle	heart
44	chr1:197530400-197531800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:197530400-197536600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:197530800-197531600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:197530800-197535800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:197530800-197541200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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