Variant report

Variant	rs7516293
Chromosome Location	chr1:197609331-197609332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13374542	1.00[AMR][1000 genomes]
rs28485341	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57589685	1.00[AMR][1000 genomes]
rs6694441	1.00[AMR][1000 genomes]
rs73075682	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075690	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075699	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077604	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077619	1.00[AMR][1000 genomes]
rs73079634	1.00[AMR][1000 genomes]
rs73079655	1.00[AMR][1000 genomes]
rs73081752	1.00[AMR][1000 genomes]
rs7539224	1.00[AMR][1000 genomes]
rs7539656	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:197542000-197626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:197553000-197629800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:197565000-197611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:197578600-197611000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:197586000-197609800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:197587000-197609800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:197587600-197610800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:197590000-197613400	Weak transcription	Stomach Mucosa	stomach
9	chr1:197591800-197610600	Weak transcription	Fetal Intestine Large	intestine
10	chr1:197593600-197628400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:197596600-197644800	Weak transcription	Ovary	ovary
12	chr1:197598800-197628600	Weak transcription	NHDF-Ad	bronchial
13	chr1:197599200-197628600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:197602800-197615200	Weak transcription	Pancreas	Pancrea
15	chr1:197602800-197625000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:197602800-197641400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:197603000-197609600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:197603000-197611200	Weak transcription	Adipose Nuclei	Adipose
19	chr1:197603000-197612600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:197603000-197614000	Weak transcription	Lung	lung
21	chr1:197603000-197620400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:197603000-197621200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:197603000-197625200	Weak transcription	Thymus	Thymus
24	chr1:197603000-197627800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:197603000-197628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:197603000-197632400	Weak transcription	Fetal Lung	lung
27	chr1:197603000-197632600	Weak transcription	Small Intestine	intestine
28	chr1:197603200-197609600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:197603200-197609800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:197603200-197610000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:197603200-197611200	Weak transcription	Primary B cells from cord blood	blood
32	chr1:197603200-197625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:197603200-197625200	Weak transcription	Left Ventricle	heart
34	chr1:197603200-197626600	Weak transcription	Fetal Stomach	stomach
35	chr1:197603200-197628400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:197603200-197645000	Weak transcription	Esophagus	oesophagus
37	chr1:197603400-197618000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:197603400-197624800	Weak transcription	Right Ventricle	heart
39	chr1:197603400-197643400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:197603600-197610600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:197604000-197626400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:197604000-197628200	Weak transcription	Liver	Liver
43	chr1:197604200-197609600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:197604200-197611400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:197604200-197611400	Weak transcription	Fetal Thymus	thymus
46	chr1:197604200-197635200	Weak transcription	Aorta	Aorta
47	chr1:197604600-197626400	Weak transcription	Primary T cells from cord blood	blood
48	chr1:197604800-197611800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:197605400-197612200	Strong transcription	Dnd41	blood
50	chr1:197607200-197609800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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