Variant report

Variant	rs3917350
Chromosome Location	chr2:113593697-113593698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:113593505-113594720	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr2:113593078-113594545	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113590769..113594416-chr2:113606347..113611014,4	K562	blood:

Variant related genes	Relation type
IL1B	TF binding region
ENSG00000180152	Chromatin interaction

rs_ID	r²[population]
rs1143624	1.00[AMR][1000 genomes]
rs1143638	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28947191	1.00[AMR][1000 genomes]
rs34801108	1.00[AMR][1000 genomes]
rs35734363	1.00[AMR][1000 genomes]
rs35893082	1.00[AMR][1000 genomes]
rs3783561	1.00[AMR][1000 genomes]
rs3917353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56978795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57460702	1.00[AMR][1000 genomes]
rs59890835	1.00[AMR][1000 genomes]
rs60771282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113587600-113593800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:113589000-113594000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
3	chr2:113589600-113594800	Weak transcription	Esophagus	oesophagus
4	chr2:113590000-113594000	Transcr. at gene 5' and 3'	NHEK	skin
5	chr2:113590400-113595200	Enhancers	Fetal Intestine Small	intestine
6	chr2:113590600-113596000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:113591200-113595000	Enhancers	Fetal Intestine Large	intestine
8	chr2:113591200-113600200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:113591600-113595000	Enhancers	Adipose Nuclei	Adipose
10	chr2:113591800-113593800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:113591800-113594000	Enhancers	Stomach Mucosa	stomach
12	chr2:113591800-113595000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:113592200-113594000	Enhancers	Pancreas	Pancrea
14	chr2:113592200-113594400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr2:113592200-113595000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr2:113592400-113593800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:113592400-113594000	Weak transcription	NH-A	brain
18	chr2:113592400-113594200	Weak transcription	HUVEC	blood vessel
19	chr2:113592600-113594200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:113592800-113594200	Active TSS	Brain Hippocampus Middle	brain
21	chr2:113592800-113594200	Enhancers	Spleen	Spleen
22	chr2:113592800-113594400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr2:113592800-113594400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:113592800-113597200	Weak transcription	Liver	Liver
25	chr2:113593000-113593800	Enhancers	GM12878-XiMat	blood
26	chr2:113593000-113594400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:113593200-113593800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:113593200-113594000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:113593200-113594400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr2:113593200-113594400	Flanking Active TSS	Hela-S3	cervix
31	chr2:113593200-113594400	Flanking Active TSS	HMEC	breast
32	chr2:113593200-113594600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:113593200-113594800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:113593400-113593800	Enhancers	Fetal Muscle Leg	muscle
35	chr2:113593400-113593800	Weak transcription	HepG2	liver
36	chr2:113593400-113594000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:113593400-113594000	Enhancers	Psoas Muscle	Psoas
38	chr2:113593400-113594200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:113593400-113594400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:113593400-113594400	Flanking Active TSS	Osteobl	bone
41	chr2:113593400-113595000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:113593400-113595000	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:113593400-113595000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr2:113593600-113593800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:113593600-113593800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:113593600-113594000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:113593600-113594200	Active TSS	Brain Cingulate Gyrus	brain
48	chr2:113593600-113594200	Weak transcription	Small Intestine	intestine
49	chr2:113593600-113594200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:113593600-113594400	Flanking Active TSS	Primary B cells from cord blood	blood

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