Variant report

Variant	rs10798443
Chromosome Location	chr1:176018090-176018091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10429846	0.94[AFR][1000 genomes]
rs10798430	0.85[AFR][1000 genomes]
rs10913125	0.92[AFR][1000 genomes]
rs13376706	0.81[AFR][1000 genomes]
rs2481626	0.89[AFR][1000 genomes]
rs2481632	0.88[AFR][1000 genomes]
rs2481637	0.90[AFR][1000 genomes]
rs2481644	0.83[AFR][1000 genomes]
rs2481648	0.91[AFR][1000 genomes]
rs2481649	0.94[AFR][1000 genomes]
rs2481650	0.88[AFR][1000 genomes]
rs2502821	0.91[AFR][1000 genomes]
rs2502827	0.94[AFR][1000 genomes]
rs2502828	0.94[AFR][1000 genomes]
rs2774925	0.83[AFR][1000 genomes]
rs4233165	0.94[AFR][1000 genomes]
rs4298689	0.92[AFR][1000 genomes]
rs4344283	0.85[AFR][1000 genomes]
rs4379645	0.85[AFR][1000 genomes]
rs4534339	0.85[AFR][1000 genomes]
rs508320	0.83[AFR][1000 genomes]
rs533299	0.83[AFR][1000 genomes]
rs613965	0.82[AFR][1000 genomes]
rs6425372	0.92[AFR][1000 genomes]
rs6425373	0.94[AFR][1000 genomes]
rs6425374	0.94[AFR][1000 genomes]
rs646754	0.81[AFR][1000 genomes]
rs6657278	0.81[AFR][1000 genomes]
rs6704250	0.83[AFR][1000 genomes]
rs704828	0.85[AFR][1000 genomes]
rs9425444	0.93[AFR][1000 genomes]
rs964931	0.81[AFR][1000 genomes]
rs998631	0.94[AFR][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	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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
4	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:175980200-176028000	Weak transcription	K562	blood
7	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
8	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
9	chr1:176003800-176021400	Weak transcription	Osteobl	bone
10	chr1:176004000-176018200	Weak transcription	Hela-S3	cervix
11	chr1:176004000-176021200	Weak transcription	A549	lung
12	chr1:176004000-176026400	Weak transcription	Small Intestine	intestine
13	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
16	chr1:176006200-176049000	Weak transcription	HSMM	muscle
17	chr1:176007600-176020200	Weak transcription	Fetal Heart	heart
18	chr1:176007800-176020400	Weak transcription	Fetal Brain Female	brain
19	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
20	chr1:176008200-176019000	Weak transcription	Fetal Kidney	kidney
21	chr1:176008200-176019000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:176010200-176048000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:176010400-176019200	Weak transcription	NHDF-Ad	bronchial
24	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:176010800-176018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:176012000-176018600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:176012200-176024200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:176012200-176028200	Weak transcription	Fetal Intestine Small	intestine
29	chr1:176012200-176044800	Weak transcription	Fetal Stomach	stomach
30	chr1:176012200-176045200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:176012200-176045200	Weak transcription	Esophagus	oesophagus
32	chr1:176012200-176045200	Weak transcription	Fetal Lung	lung
33	chr1:176012400-176019400	Weak transcription	Brain Anterior Caudate	brain
34	chr1:176012400-176019400	Weak transcription	Fetal Thymus	thymus
35	chr1:176012400-176024000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:176012400-176029200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:176012400-176036400	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:176012400-176036400	Weak transcription	Gastric	stomach
39	chr1:176012400-176036400	Weak transcription	Left Ventricle	heart
40	chr1:176012400-176036400	Weak transcription	Spleen	Spleen
41	chr1:176012400-176045400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:176012400-176045800	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:176012400-176048200	Weak transcription	Ovary	ovary
44	chr1:176012400-176048200	Weak transcription	Thymus	Thymus
45	chr1:176012400-176062800	Weak transcription	Lung	lung
46	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:176012600-176018400	Weak transcription	Placenta	Placenta
48	chr1:176012800-176020400	Weak transcription	Adipose Nuclei	Adipose
49	chr1:176012800-176021200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:176012800-176027800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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