Variant report

Variant	rs1166703
Chromosome Location	chr1:78340039-78340040
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10782656	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11162388	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3736909	0.81[AMR][1000 genomes]
rs4949823	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6604878	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6695986	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7524521	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7547599	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7547820	0.92[ASN][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	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78282800-78353400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:78298400-78340400	Weak transcription	Colonic Mucosa	Colon
3	chr1:78298600-78352400	Weak transcription	Right Ventricle	heart
4	chr1:78299400-78340200	Weak transcription	NHEK	skin
5	chr1:78299400-78341200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:78299600-78340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:78299600-78343000	Weak transcription	K562	blood
8	chr1:78299600-78353800	Weak transcription	Brain Substantia Nigra	brain
9	chr1:78300800-78342200	Weak transcription	Fetal Brain Male	brain
10	chr1:78301400-78353200	Weak transcription	HSMMtube	muscle
11	chr1:78301800-78342400	Weak transcription	NHLF	lung
12	chr1:78305800-78342600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:78306000-78342600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:78309200-78352400	Weak transcription	Aorta	Aorta
15	chr1:78312000-78353000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:78313000-78353200	Weak transcription	HUVEC	blood vessel
17	chr1:78313400-78343200	Weak transcription	Pancreas	Pancrea
18	chr1:78323800-78340600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:78324600-78353800	Weak transcription	Esophagus	oesophagus
20	chr1:78324800-78340200	Weak transcription	Hela-S3	cervix
21	chr1:78326400-78341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:78327200-78353600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:78327400-78353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:78329000-78340400	Weak transcription	A549	lung
25	chr1:78329400-78340600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:78329600-78344400	Weak transcription	GM12878-XiMat	blood
27	chr1:78330000-78344400	Weak transcription	Small Intestine	intestine
28	chr1:78330800-78346600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:78331400-78342600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:78332400-78340400	Weak transcription	NHDF-Ad	bronchial
31	chr1:78333200-78343800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:78333400-78340200	Weak transcription	Spleen	Spleen
33	chr1:78333400-78340600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:78333400-78353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:78333400-78353800	Weak transcription	Lung	lung
36	chr1:78333600-78346400	Weak transcription	Brain Anterior Caudate	brain
37	chr1:78333600-78352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:78333600-78354000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:78333800-78340400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:78333800-78352600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:78333800-78353800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:78334000-78340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:78334200-78340600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:78334400-78340200	Weak transcription	Primary T cells from cord blood	blood
45	chr1:78334400-78340400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:78334400-78340600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:78334400-78340600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:78334400-78340600	Weak transcription	Ovary	ovary
49	chr1:78334400-78340600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:78334400-78340800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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