Variant report

Variant	rs7591718
Chromosome Location	chr2:128162151-128162152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128155478..128158047-chr2:128160860..128162623,2	K562	blood:
2	chr2:128160704..128163644-chr2:128286914..128289869,2	K562	blood:
3	chr2:128158177..128161164-chr2:128161262..128165115,3	K562	blood:
4	chr2:128143860..128148648-chr2:128154163..128162464,14	MCF-7	breast:
5	chr2:128143318..128152182-chr2:128154033..128162255,17	K562	blood:

Variant related genes	Relation type
ENSG00000236682	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[EUR][1000 genomes]
rs72848646	1.00[EUR][1000 genomes]
rs72848648	1.00[EUR][1000 genomes]
rs72848651	1.00[EUR][1000 genomes]
rs7599334	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8179521	0.87[EUR][1000 genomes]

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128146400-128165200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:128146600-128162600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:128150400-128165000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:128152600-128165800	Weak transcription	Aorta	Aorta
5	chr2:128155800-128164800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:128156000-128162200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:128156000-128163800	Enhancers	A549	lung
8	chr2:128156200-128162800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:128156200-128163000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:128156200-128163000	Weak transcription	Right Atrium	heart
11	chr2:128156200-128165200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:128156400-128164200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:128156800-128165200	Weak transcription	Pancreas	Pancrea
14	chr2:128157000-128165400	Weak transcription	Psoas Muscle	Psoas
15	chr2:128158800-128162800	Weak transcription	Left Ventricle	heart
16	chr2:128158800-128163600	Enhancers	Fetal Intestine Small	intestine
17	chr2:128159200-128162200	Weak transcription	Esophagus	oesophagus
18	chr2:128159200-128162400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:128159200-128164800	Weak transcription	NHDF-Ad	bronchial
20	chr2:128159200-128165000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:128159200-128165200	Weak transcription	Right Ventricle	heart
22	chr2:128159200-128165200	Weak transcription	NHLF	lung
23	chr2:128159400-128165000	Weak transcription	Osteobl	bone
24	chr2:128159400-128165200	Weak transcription	HSMM	muscle
25	chr2:128159600-128162200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:128159600-128164000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:128159600-128164800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:128159800-128162200	Weak transcription	Small Intestine	intestine
29	chr2:128159800-128162400	Weak transcription	K562	blood
30	chr2:128159800-128164600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:128159800-128165000	Weak transcription	NH-A	brain
32	chr2:128159800-128165200	Weak transcription	Placenta	Placenta
33	chr2:128160000-128162200	Weak transcription	HUVEC	blood vessel
34	chr2:128160000-128162600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:128160200-128162200	Weak transcription	Spleen	Spleen
36	chr2:128160200-128162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:128160200-128162600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:128160200-128162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:128160200-128164400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:128160200-128164800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:128160200-128165000	Weak transcription	Stomach Mucosa	stomach
42	chr2:128160200-128165000	Weak transcription	Hela-S3	cervix
43	chr2:128160200-128165200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:128160400-128162200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:128160400-128162200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:128160400-128162200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:128160400-128162200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:128160400-128162400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:128160400-128162800	Weak transcription	Colonic Mucosa	Colon
50	chr2:128160400-128162800	Weak transcription	HepG2	liver

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