Variant report

Variant	rs72848646
Chromosome Location	chr2:128165435-128165436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128165019..128167453-chr2:128175077..128177186,2	K562	blood:
2	chr2:128150462..128152634-chr2:128164204..128165891,2	K562	blood:
3	chr2:128143825..128149210-chr2:128164212..128171253,11	K562	blood:
4	chr2:128144539..128145445-chr2:128165335..128166197,2	MCF-7	breast:
5	chr2:128138736..128141461-chr2:128164363..128167331,3	K562	blood:
6	chr2:128164915..128167319-chr2:128457695..128459898,2	MCF-7	breast:
7	chr2:128142542..128150787-chr2:128162650..128169241,18	MCF-7	breast:
8	chr2:128153413..128157536-chr2:128163810..128168101,4	K562	blood:
9	chr2:128164669..128167933-chr2:128169756..128171725,4	MCF-7	breast:
10	chr2:122288230..122290596-chr2:128165083..128168057,2	K562	blood:
11	chr2:128142687..128147811-chr2:128164209..128172701,12	MCF-7	breast:
12	chr2:128143990..128147232-chr2:128162685..128167224,6	K562	blood:
13	chr2:128165398..128167231-chr2:128168499..128171120,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236682	Chromatin interaction
ENSG00000173349	Chromatin interaction
ENSG00000115718	Chromatin interaction
ENSG00000074054	Chromatin interaction
ENSG00000264229	Chromatin interaction
ENSG00000169967	Chromatin interaction

rs_ID	r²[population]
rs2069892	1.00[EUR][1000 genomes]
rs2069907	1.00[EUR][1000 genomes]
rs2069934	1.00[EUR][1000 genomes]
rs2069939	1.00[EUR][1000 genomes]
rs55871356	0.83[EUR][1000 genomes]
rs56033800	0.83[EUR][1000 genomes]
rs72845961	0.81[EUR][1000 genomes]
rs72848605	0.83[EUR][1000 genomes]
rs72848607	0.83[EUR][1000 genomes]
rs72848610	0.81[EUR][1000 genomes]
rs72848614	0.83[EUR][1000 genomes]
rs72848617	0.83[EUR][1000 genomes]
rs72848619	0.83[EUR][1000 genomes]
rs72848621	0.83[EUR][1000 genomes]
rs72848623	0.83[EUR][1000 genomes]
rs72848624	0.83[EUR][1000 genomes]
rs72848625	0.83[EUR][1000 genomes]
rs72848626	0.83[EUR][1000 genomes]
rs72848627	0.83[EUR][1000 genomes]
rs72848628	0.83[EUR][1000 genomes]
rs72848629	0.83[EUR][1000 genomes]
rs72848630	0.83[EUR][1000 genomes]
rs72848635	0.83[EUR][1000 genomes]
rs72848637	0.87[EUR][1000 genomes]
rs72848642	0.87[EUR][1000 genomes]
rs72848645	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848648	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848651	1.00[EUR][1000 genomes]
rs7591718	1.00[EUR][1000 genomes]
rs7599334	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8179521	0.87[EUR][1000 genomes]

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128152600-128165800	Weak transcription	Aorta	Aorta
2	chr2:128162000-128165800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:128162200-128165600	Enhancers	NHEK	skin
4	chr2:128163600-128165800	Weak transcription	Esophagus	oesophagus
5	chr2:128164000-128165800	Enhancers	HMEC	breast
6	chr2:128164200-128165800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:128164200-128165800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:128164200-128166600	Enhancers	Fetal Thymus	thymus
9	chr2:128164400-128165800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:128164400-128166400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:128164600-128165800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:128164800-128165600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:128164800-128165800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:128164800-128165800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:128164800-128165800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:128164800-128165800	Enhancers	Small Intestine	intestine
17	chr2:128164800-128165800	Enhancers	Spleen	Spleen
18	chr2:128164800-128166400	Enhancers	NHDF-Ad	bronchial
19	chr2:128165000-128165600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:128165000-128165600	Flanking Active TSS	Hela-S3	cervix
21	chr2:128165000-128165800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:128165000-128165800	Enhancers	HUVEC	blood vessel
23	chr2:128165000-128165800	Enhancers	NH-A	brain
24	chr2:128165000-128166400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:128165000-128166400	Enhancers	GM12878-XiMat	blood
26	chr2:128165000-128166600	Enhancers	Stomach Mucosa	stomach
27	chr2:128165200-128165600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr2:128165200-128165600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:128165200-128165600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:128165200-128165600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr2:128165200-128165600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr2:128165200-128165600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr2:128165200-128165600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:128165200-128165600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr2:128165200-128165600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:128165200-128165600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:128165200-128165600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:128165200-128165600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:128165200-128165600	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr2:128165200-128165600	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr2:128165200-128165600	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr2:128165200-128165600	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr2:128165200-128165600	Flanking Active TSS	Placenta	Placenta
44	chr2:128165200-128165600	Flanking Active TSS	Dnd41	blood
45	chr2:128165200-128165600	Flanking Active TSS	HepG2	liver
46	chr2:128165200-128165600	Enhancers	HSMM	muscle
47	chr2:128165200-128165600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr2:128165200-128165800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr2:128165200-128165800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:128165200-128165800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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