Variant report

Variant	rs2502820
Chromosome Location	chr1:176032476-176032477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2481640	0.80[AFR][1000 genomes]
rs2481652	0.86[AFR][1000 genomes]
rs4652146	0.86[AFR][1000 genomes]
rs6425369	0.84[AFR][1000 genomes]
rs6674353	0.80[AFR][1000 genomes]
rs7532122	0.86[AFR][1000 genomes]
rs7541563	0.86[AFR][1000 genomes]
rs791748	0.80[AFR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
3	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
6	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
7	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
10	chr1:176006200-176049000	Weak transcription	HSMM	muscle
11	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
12	chr1:176010200-176048000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:176012200-176044800	Weak transcription	Fetal Stomach	stomach
15	chr1:176012200-176045200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:176012200-176045200	Weak transcription	Esophagus	oesophagus
17	chr1:176012200-176045200	Weak transcription	Fetal Lung	lung
18	chr1:176012400-176036400	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:176012400-176036400	Weak transcription	Gastric	stomach
20	chr1:176012400-176036400	Weak transcription	Left Ventricle	heart
21	chr1:176012400-176036400	Weak transcription	Spleen	Spleen
22	chr1:176012400-176045400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:176012400-176045800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:176012400-176048200	Weak transcription	Ovary	ovary
25	chr1:176012400-176048200	Weak transcription	Thymus	Thymus
26	chr1:176012400-176062800	Weak transcription	Lung	lung
27	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:176012800-176036800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:176012800-176038000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:176012800-176040000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:176012800-176042600	Weak transcription	Liver	Liver
32	chr1:176012800-176047000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:176013000-176040000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:176013000-176045000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:176013400-176040000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:176013600-176037600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:176013600-176040000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:176014400-176039800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:176014400-176045200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:176015400-176038000	Weak transcription	Dnd41	blood
41	chr1:176015400-176039000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:176015400-176040200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:176015600-176040000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:176017000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:176017200-176036400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:176020800-176033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:176020800-176037600	Weak transcription	Adipose Nuclei	Adipose
48	chr1:176021600-176045000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:176022800-176039800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:176024400-176036400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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