Variant report

Variant	rs1178007
Chromosome Location	chr2:172247281-172247282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10205459	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1024872	1.00[AFR][1000 genomes]
rs10803861	1.00[AFR][1000 genomes]
rs1178011	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1558962	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2080717	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172231400-172248000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:172231800-172248200	Weak transcription	Esophagus	oesophagus
4	chr2:172232000-172253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:172237800-172254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:172239000-172248000	Weak transcription	HepG2	liver
9	chr2:172239000-172250000	Weak transcription	Fetal Stomach	stomach
10	chr2:172239200-172250400	Weak transcription	Fetal Heart	heart
11	chr2:172239200-172250600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:172239200-172257400	Weak transcription	K562	blood
13	chr2:172239600-172247600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:172240000-172248000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:172240200-172247800	Weak transcription	NHLF	lung
16	chr2:172240600-172251000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:172241400-172247400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:172242400-172247600	Weak transcription	Ovary	ovary
19	chr2:172242600-172248000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:172242800-172249800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:172243200-172248200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:172243600-172253400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:172243800-172248000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:172243800-172248200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:172243800-172257800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:172244000-172257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:172244200-172247800	Genic enhancers	GM12878-XiMat	blood
28	chr2:172244400-172248000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:172244400-172248400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:172244600-172247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:172244600-172248000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:172244600-172248000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:172244600-172248000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:172244600-172248200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:172245000-172248400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:172245400-172248000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:172245600-172251800	Weak transcription	Dnd41	blood
38	chr2:172246000-172248000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:172246200-172247400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:172246200-172249200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:172246400-172248000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:172246400-172250200	Weak transcription	Primary B cells from cord blood	blood
43	chr2:172246600-172248400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:172246600-172248400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:172246600-172248400	Enhancers	NHDF-Ad	bronchial
46	chr2:172246800-172248400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:172246800-172248400	Enhancers	NH-A	brain
48	chr2:172246800-172248800	Enhancers	HMEC	breast
49	chr2:172246800-172248800	Enhancers	Osteobl	bone
50	chr2:172246800-172255400	Weak transcription	Primary B cells from peripheral blood	blood

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