Variant report

Variant	rs56721088
Chromosome Location	chr2:39965738-39965739
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39956511..39959313-chr2:39963423..39966222,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11124693	0.82[EUR][1000 genomes]
rs1861243	0.81[EUR][1000 genomes]
rs2540226	0.81[EUR][1000 genomes]
rs2540227	0.80[EUR][1000 genomes]
rs8265	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
2	chr2:39956200-39966400	Weak transcription	Small Intestine	intestine
3	chr2:39957400-39971200	Strong transcription	Primary T cells from cord blood	blood
4	chr2:39959000-39971200	Strong transcription	Fetal Thymus	thymus
5	chr2:39959400-39966400	Strong transcription	Fetal Intestine Large	intestine
6	chr2:39959400-39967400	Strong transcription	A549	lung
7	chr2:39959400-39971000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:39959400-39974200	Strong transcription	Primary B cells from cord blood	blood
9	chr2:39959600-39967200	Strong transcription	HepG2	liver
10	chr2:39959800-39967000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:39960000-39969000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:39960000-39971000	Strong transcription	K562	blood
13	chr2:39960000-39971200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:39960000-39971400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:39960000-39971800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:39960200-39971000	Strong transcription	Fetal Muscle Leg	muscle
17	chr2:39960200-39973800	Strong transcription	Primary hematopoietic stem cells	blood
18	chr2:39960200-39987200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:39960400-39970200	Strong transcription	GM12878-XiMat	blood
20	chr2:39960400-39973600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:39960400-39983000	Weak transcription	Stomach Mucosa	stomach
22	chr2:39961000-39966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:39961200-39974600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:39961400-39969800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:39961400-39984200	Weak transcription	Colonic Mucosa	Colon
26	chr2:39961600-39968800	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:39961600-39971200	Strong transcription	Dnd41	blood
28	chr2:39961800-39971200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr2:39962000-39970600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:39962000-39971000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:39962000-39971200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr2:39962200-39966800	Strong transcription	Fetal Brain Female	brain
33	chr2:39962200-39967000	Strong transcription	Thymus	Thymus
34	chr2:39962200-39970800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:39962200-39971000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:39962200-39971200	Strong transcription	Adipose Nuclei	Adipose
37	chr2:39962200-39986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:39962200-39993200	Strong transcription	Liver	Liver
39	chr2:39962400-39966000	Strong transcription	Fetal Intestine Small	intestine
40	chr2:39962400-39966800	Strong transcription	Spleen	Spleen
41	chr2:39962400-39968200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:39962400-39968200	Strong transcription	Fetal Stomach	stomach
43	chr2:39962400-39971000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:39962600-39966400	Strong transcription	Placenta	Placenta
45	chr2:39962600-39966400	Strong transcription	Lung	lung
46	chr2:39962600-39967800	Strong transcription	Hela-S3	cervix
47	chr2:39962600-39970200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:39962600-39971000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:39962800-39967600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:39962800-39970000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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