Variant report

Variant	rs7599334
Chromosome Location	chr2:128164255-128164256
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128150462..128152634-chr2:128164204..128165891,2	K562	blood:
2	chr2:128162244..128164510-chr2:128166050..128167610,2	K562	blood:
3	chr2:128143825..128149210-chr2:128164212..128171253,11	K562	blood:
4	chr2:128162268..128164510-chr2:128165613..128167550,2	K562	blood:
5	chr2:128142542..128150787-chr2:128162650..128169241,18	MCF-7	breast:
6	chr2:128153413..128157536-chr2:128163810..128168101,4	K562	blood:
7	chr2:128142687..128147811-chr2:128164209..128172701,12	MCF-7	breast:
8	chr2:128158177..128161164-chr2:128161262..128165115,3	K562	blood:
9	chr2:128143990..128147232-chr2:128162685..128167224,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169967	Chromatin interaction
ENSG00000236682	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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848646	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848648	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848651	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7591718	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8179521	0.87[EUR][1000 genomes]

Chromatin state (count:86 , 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	chr2:128150400-128165000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:128152600-128165800	Weak transcription	Aorta	Aorta
4	chr2:128155800-128164800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:128156200-128165200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:128156800-128165200	Weak transcription	Pancreas	Pancrea
7	chr2:128157000-128165400	Weak transcription	Psoas Muscle	Psoas
8	chr2:128159200-128164800	Weak transcription	NHDF-Ad	bronchial
9	chr2:128159200-128165000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:128159200-128165200	Weak transcription	Right Ventricle	heart
11	chr2:128159200-128165200	Weak transcription	NHLF	lung
12	chr2:128159400-128165000	Weak transcription	Osteobl	bone
13	chr2:128159400-128165200	Weak transcription	HSMM	muscle
14	chr2:128159600-128164800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:128159800-128164600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:128159800-128165000	Weak transcription	NH-A	brain
17	chr2:128159800-128165200	Weak transcription	Placenta	Placenta
18	chr2:128160200-128164400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:128160200-128164800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:128160200-128165000	Weak transcription	Stomach Mucosa	stomach
21	chr2:128160200-128165000	Weak transcription	Hela-S3	cervix
22	chr2:128160200-128165200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:128160400-128164800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:128160800-128165200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:128161400-128164600	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:128161400-128165400	Weak transcription	Ovary	ovary
27	chr2:128162000-128165800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:128162200-128164400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:128162200-128165600	Enhancers	NHEK	skin
30	chr2:128162400-128164600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:128162400-128165200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:128162600-128164800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:128162800-128164800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:128162800-128164800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:128162800-128165000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:128162800-128165000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:128163000-128164400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:128163000-128164800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:128163000-128165000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:128163000-128165000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:128163000-128165000	Weak transcription	GM12878-XiMat	blood
42	chr2:128163000-128165200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:128163000-128165200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:128163000-128165200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:128163000-128165200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:128163200-128164400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:128163200-128164400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:128163200-128164800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr2:128163200-128164800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:128163200-128165000	Weak transcription	Colon Smooth Muscle	Colon

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