Variant report

Variant	rs7580260
Chromosome Location	chr2:114635043-114635044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114595700..114597875-chr2:114633557..114635460,2	MCF-7	breast:
2	chr2:114599733..114601786-chr2:114631688..114635727,3	MCF-7	breast:
3	chr2:114634689..114637227-chr2:114637787..114640303,2	K562	blood:
4	chr2:114634584..114637421-chr2:118770170..118773042,2	MCF-7	breast:
5	chr2:114512137..114514809-chr2:114634552..114636570,3	MCF-7	breast:
6	chr2:114633812..114636075-chr2:114642561..114644204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125633	Chromatin interaction
ENSG00000115084	Chromatin interaction
ENSG00000228857	Chromatin interaction

rs_ID	r²[population]
rs10188927	0.85[AFR][1000 genomes]
rs10194262	0.81[AFR][1000 genomes]
rs10195450	0.85[AFR][1000 genomes]
rs10199930	0.85[AFR][1000 genomes]
rs10204719	0.85[AFR][1000 genomes]
rs12617393	0.89[AFR][1000 genomes]
rs13387748	0.85[AFR][1000 genomes]
rs13393280	0.87[AFR][1000 genomes]
rs13396357	0.81[AFR][1000 genomes]
rs13426411	0.89[AFR][1000 genomes]
rs13429261	0.89[AFR][1000 genomes]
rs13432142	0.89[AFR][1000 genomes]
rs2134778	0.81[ASN][1000 genomes]
rs2279838	0.84[ASN][1000 genomes]
rs28502860	0.89[ASN][1000 genomes]
rs3791742	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs62171780	0.87[ASN][1000 genomes]
rs6542179	0.89[AFR][1000 genomes]
rs6706992	1.00[ASW][hapmap];0.84[LWK][hapmap];0.81[AFR][1000 genomes]
rs6735673	0.85[AFR][1000 genomes]
rs6741741	0.89[AFR][1000 genomes]
rs6742452	1.00[ASW][hapmap];0.85[AFR][1000 genomes]
rs6758858	0.83[AFR][1000 genomes]
rs6759040	0.89[AFR][1000 genomes]
rs7561061	0.85[AFR][1000 genomes]
rs7578772	0.81[AFR][1000 genomes]
rs7581859	0.85[AFR][1000 genomes]
rs7592252	0.83[AFR][1000 genomes]

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114621200-114639600	Weak transcription	GM12878-XiMat	blood
2	chr2:114621400-114638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:114630200-114635200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:114630400-114635200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:114630400-114635200	Weak transcription	Osteobl	bone
6	chr2:114630400-114635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:114631400-114635200	Weak transcription	Small Intestine	intestine
8	chr2:114631400-114644000	Weak transcription	Spleen	Spleen
9	chr2:114631600-114636400	Weak transcription	Left Ventricle	heart
10	chr2:114631800-114635400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:114631800-114639000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:114632000-114635200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:114632000-114635600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:114632400-114635400	Weak transcription	HUVEC	blood vessel
15	chr2:114632600-114636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:114633400-114636000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:114633400-114636400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:114633600-114636000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:114633800-114635600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:114633800-114636000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:114633800-114636000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:114633800-114636200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:114633800-114636800	Enhancers	Fetal Intestine Large	intestine
24	chr2:114633800-114636800	Enhancers	HMEC	breast
25	chr2:114633800-114637200	Enhancers	Stomach Mucosa	stomach
26	chr2:114633800-114646800	Weak transcription	Aorta	Aorta
27	chr2:114634000-114635600	Enhancers	Placenta	Placenta
28	chr2:114634000-114635600	Flanking Active TSS	HepG2	liver
29	chr2:114634200-114635200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:114634200-114636000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:114634200-114636000	Enhancers	K562	blood
32	chr2:114634200-114636800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:114634200-114636800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:114634200-114636800	Enhancers	Fetal Intestine Small	intestine
35	chr2:114634200-114636800	Enhancers	A549	lung
36	chr2:114634200-114637000	Enhancers	Hela-S3	cervix
37	chr2:114634200-114644800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:114634400-114635200	Weak transcription	Fetal Lung	lung
39	chr2:114634400-114635200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:114634400-114636800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:114634400-114637000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:114634400-114644200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:114634600-114635600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:114634600-114635800	Enhancers	Fetal Thymus	thymus
45	chr2:114634600-114635800	Enhancers	Dnd41	blood
46	chr2:114634600-114636400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr2:114634600-114637200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:114634600-114637800	Weak transcription	Fetal Brain Male	brain
49	chr2:114634600-114639200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:114634600-114639200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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