Variant report

Variant	rs59357342
Chromosome Location	chr2:114635240-114635241
allele	A/G
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]
rs11123219	0.97[ASN][1000 genomes]
rs11890157	0.91[ASN][1000 genomes]
rs12466566	0.83[AMR][1000 genomes]
rs12469450	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12469844	0.93[ASN][1000 genomes]
rs12478153	0.97[ASN][1000 genomes]
rs13388876	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13401311	0.83[AMR][1000 genomes]
rs17045275	0.82[AMR][1000 genomes]
rs2140263	0.83[AMR][1000 genomes]
rs28423681	0.81[AMR][1000 genomes]
rs3791738	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56021927	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56114409	0.93[ASN][1000 genomes]
rs6735675	0.93[ASN][1000 genomes]

Chromatin state (count:82 , 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	chr2:114630400-114635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:114631400-114644000	Weak transcription	Spleen	Spleen
5	chr2:114631600-114636400	Weak transcription	Left Ventricle	heart
6	chr2:114631800-114635400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:114631800-114639000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:114632000-114635600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:114632400-114635400	Weak transcription	HUVEC	blood vessel
10	chr2:114632600-114636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:114633400-114636000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:114633400-114636400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:114633600-114636000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:114633800-114635600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:114633800-114636000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:114633800-114636000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:114633800-114636200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:114633800-114636800	Enhancers	Fetal Intestine Large	intestine
19	chr2:114633800-114636800	Enhancers	HMEC	breast
20	chr2:114633800-114637200	Enhancers	Stomach Mucosa	stomach
21	chr2:114633800-114646800	Weak transcription	Aorta	Aorta
22	chr2:114634000-114635600	Enhancers	Placenta	Placenta
23	chr2:114634000-114635600	Flanking Active TSS	HepG2	liver
24	chr2:114634200-114636000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:114634200-114636000	Enhancers	K562	blood
26	chr2:114634200-114636800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:114634200-114636800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:114634200-114636800	Enhancers	Fetal Intestine Small	intestine
29	chr2:114634200-114636800	Enhancers	A549	lung
30	chr2:114634200-114637000	Enhancers	Hela-S3	cervix
31	chr2:114634200-114644800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:114634400-114636800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:114634400-114637000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:114634400-114644200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:114634600-114635600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:114634600-114635800	Enhancers	Fetal Thymus	thymus
37	chr2:114634600-114635800	Enhancers	Dnd41	blood
38	chr2:114634600-114636400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:114634600-114637200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:114634600-114637800	Weak transcription	Fetal Brain Male	brain
41	chr2:114634600-114639200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:114634600-114639200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:114634600-114642000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:114634600-114644000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:114634600-114644000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:114634600-114644000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:114634600-114644000	Weak transcription	Pancreas	Pancrea
48	chr2:114634600-114645800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:114634600-114646000	Weak transcription	Brain Anterior Caudate	brain
50	chr2:114634600-114646200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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