Variant report

Variant	rs2944260
Chromosome Location	chr1:180776734-180776735
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180774509..180777910-chr1:180782465..180785620,3	K562	blood:
2	chr1:180768908..180772239-chr1:180775500..180777474,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10732273	1.00[AFR][1000 genomes]
rs1400038	1.00[AFR][1000 genomes]
rs1515960	1.00[AFR][1000 genomes]
rs2063849	1.00[AFR][1000 genomes]
rs2944263	1.00[AFR][1000 genomes]
rs3002120	1.00[AFR][1000 genomes]
rs3002122	0.87[AFR][1000 genomes]
rs3013635	1.00[AFR][1000 genomes]
rs3013636	1.00[AFR][1000 genomes]
rs3845408	1.00[AFR][1000 genomes]
rs3856061	1.00[AFR][1000 genomes]
rs4651076	1.00[AFR][1000 genomes]
rs4652534	1.00[AFR][1000 genomes]
rs6683252	1.00[AFR][1000 genomes]
rs7531753	1.00[AFR][1000 genomes]
rs7535885	1.00[AFR][1000 genomes]
rs7548808	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv3777	chr1:180741213-180780313	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180741600-180784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:180754800-180781600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:180755000-180783800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:180755400-180803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:180755400-180820400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:180755800-180777800	Weak transcription	Fetal Brain Female	brain
8	chr1:180756000-180781400	Weak transcription	Liver	Liver
9	chr1:180756800-180778800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:180756800-180810200	Weak transcription	Fetal Brain Male	brain
11	chr1:180757400-180779400	Weak transcription	Left Ventricle	heart
12	chr1:180758000-180804000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:180758600-180781200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:180759000-180776800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:180759000-180794800	Weak transcription	Fetal Intestine Small	intestine
16	chr1:180761200-180789200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:180761400-180784400	Weak transcription	NHEK	skin
18	chr1:180761400-180794000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:180761400-180796400	Weak transcription	HMEC	breast
20	chr1:180761400-180804600	Weak transcription	Aorta	Aorta
21	chr1:180762000-180780600	Weak transcription	Osteobl	bone
22	chr1:180762000-180785200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:180763200-180780600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:180763600-180806800	Weak transcription	Psoas Muscle	Psoas
25	chr1:180763800-180780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:180766200-180784800	Weak transcription	Fetal Lung	lung
27	chr1:180767400-180820400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:180767600-180795400	Weak transcription	Thymus	Thymus
29	chr1:180768000-180812000	Weak transcription	Pancreas	Pancrea
30	chr1:180768600-180781200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:180769000-180802000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:180769800-180781600	Weak transcription	Lung	lung
33	chr1:180770400-180783600	Weak transcription	Fetal Heart	heart
34	chr1:180771000-180783800	Weak transcription	HepG2	liver
35	chr1:180771000-180813600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:180771200-180785600	Weak transcription	HUVEC	blood vessel
37	chr1:180771400-180778000	Weak transcription	Brain Germinal Matrix	brain
38	chr1:180771800-180780400	Weak transcription	HSMM	muscle
39	chr1:180772000-180789400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:180772000-180789400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:180772000-180823200	Weak transcription	Fetal Stomach	stomach
42	chr1:180772200-180801800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:180772400-180784600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:180772600-180777800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:180773000-180799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:180773000-180802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:180773400-180849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:180773800-180778000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:180773800-180796600	Weak transcription	Spleen	Spleen
50	chr1:180773800-180853200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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