Variant report

Variant	rs2811324
Chromosome Location	chr1:62285716-62285717
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62284465..62286145-chr1:62287888..62289486,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1286816	0.83[ASN][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	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS 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
3	nsv830004	chr1:62242944-62382228	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1099	chr1:62275317-62315943	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62220200-62290200	Weak transcription	Lung	lung
2	chr1:62220200-62310800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:62222000-62293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:62224000-62290800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:62227800-62294600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:62228600-62391800	Weak transcription	Small Intestine	intestine
7	chr1:62233400-62288800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:62235400-62288800	Weak transcription	A549	lung
9	chr1:62247600-62287400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:62247600-62297400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:62250000-62302800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:62251200-62288600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:62251200-62306400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:62253600-62297400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:62253800-62289000	Weak transcription	HepG2	liver
16	chr1:62254000-62286400	Weak transcription	Aorta	Aorta
17	chr1:62254000-62288600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:62254200-62288400	Weak transcription	Adipose Nuclei	Adipose
19	chr1:62255600-62302400	Weak transcription	Brain Anterior Caudate	brain
20	chr1:62257000-62291600	Weak transcription	Gastric	stomach
21	chr1:62263400-62293200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:62263600-62288400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:62263800-62303800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:62263800-62343600	Weak transcription	Colonic Mucosa	Colon
25	chr1:62264200-62290200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:62264600-62286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:62264600-62286400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:62264600-62287800	Weak transcription	Left Ventricle	heart
29	chr1:62264600-62292800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:62264600-62296000	Weak transcription	Fetal Brain Female	brain
31	chr1:62264600-62297400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:62264600-62321600	Weak transcription	Pancreas	Pancrea
33	chr1:62264600-62335600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:62265200-62293000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:62265400-62293200	Weak transcription	Fetal Stomach	stomach
36	chr1:62265600-62288400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:62266600-62288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:62270800-62290200	Weak transcription	Stomach Mucosa	stomach
39	chr1:62271800-62286400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:62271800-62329800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:62272000-62287200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:62272000-62290200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:62272800-62287600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:62273200-62286400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:62273600-62290800	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:62275000-62287000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:62275000-62288400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:62275000-62301600	Weak transcription	Ovary	ovary
49	chr1:62275400-62293200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:62277000-62287800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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