Variant report

Variant	rs7566408
Chromosome Location	chr2:85726720-85726721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85726132..85728834-chr2:85772359..85774217,2	K562	blood:
2	chr2:85721306..85734455-chr2:85761299..85769531,43	K562	blood:
3	chr2:85726565..85729187-chr2:85739922..85742160,2	K562	blood:
4	chr2:85724612..85727144-chr2:85772474..85775148,2	K562	blood:
5	chr2:85722180..85736122-chr2:85762661..85770266,54	K562	blood:
6	chr2:85720144..85722154-chr2:85725274..85727567,3	K562	blood:
7	chr2:85722294..85724723-chr2:85726333..85730393,4	K562	blood:

Variant related genes	Relation type
ENSG00000168906	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11126994	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11673725	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv979031	chr2:85709070-85727517	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85722200-85727400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:85722600-85727400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:85723800-85730600	Weak transcription	Small Intestine	intestine
4	chr2:85725000-85728200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:85725600-85727000	Enhancers	Primary B cells from cord blood	blood
6	chr2:85725600-85729200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr2:85725800-85727600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:85725800-85728800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:85725800-85730800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:85726000-85726800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:85726000-85726800	Enhancers	Fetal Intestine Large	intestine
12	chr2:85726000-85726800	Enhancers	Left Ventricle	heart
13	chr2:85726000-85727000	Enhancers	Osteobl	bone
14	chr2:85726000-85727200	Enhancers	HepG2	liver
15	chr2:85726000-85727200	Enhancers	HUVEC	blood vessel
16	chr2:85726000-85727400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:85726000-85727600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:85726000-85727600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:85726000-85727600	Enhancers	Stomach Mucosa	stomach
20	chr2:85726000-85727800	Enhancers	NHEK	skin
21	chr2:85726000-85735000	Enhancers	NHDF-Ad	bronchial
22	chr2:85726200-85727200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:85726200-85727200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:85726200-85727200	Weak transcription	NHLF	lung
25	chr2:85726200-85727600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:85726200-85727800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:85726200-85728200	Weak transcription	Fetal Intestine Small	intestine
28	chr2:85726200-85729600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:85726200-85730600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:85726200-85730600	Weak transcription	NH-A	brain
31	chr2:85726400-85726800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:85726400-85726800	Weak transcription	Hela-S3	cervix
33	chr2:85726400-85727000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:85726400-85727200	Weak transcription	Adipose Nuclei	Adipose
35	chr2:85726400-85727400	Weak transcription	Lung	lung
36	chr2:85726400-85727400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:85726400-85729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:85726400-85729600	Weak transcription	HMEC	breast
39	chr2:85726400-85730000	Weak transcription	Right Ventricle	heart
40	chr2:85726400-85730000	Weak transcription	Spleen	Spleen
41	chr2:85726400-85730400	Weak transcription	HSMMtube	muscle
42	chr2:85726400-85732000	Weak transcription	Fetal Thymus	thymus
43	chr2:85726400-85734400	Enhancers	A549	lung
44	chr2:85726600-85727000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:85726600-85727000	Weak transcription	Liver	Liver
46	chr2:85726600-85727000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:85726600-85727000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:85726600-85727000	Enhancers	K562	blood
49	chr2:85726600-85727000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr2:85726600-85727400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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