Variant report

Variant	rs8139248
Chromosome Location	chr22:29501244-29501245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29500096..29501834-chr22:29533331..29535067,2	K562	blood:
2	chr22:29500127..29504007-chr22:29504582..29508523,3	K562	blood:

Variant related genes	Relation type
ENSG00000226772	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11912894	1.00[CEU][hapmap]
rs11913805	1.00[CEU][hapmap]
rs16987065	1.00[CEU][hapmap]
rs16987067	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16987167	1.00[CEU][hapmap]
rs41382448	1.00[CEU][hapmap]
rs4429563	1.00[EUR][1000 genomes]
rs4508707	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5762930	1.00[CEU][hapmap]
rs5762931	1.00[CEU][hapmap]
rs6519774	1.00[EUR][1000 genomes]
rs6519779	1.00[CEU][hapmap]
rs722590	1.00[CEU][hapmap]
rs725281	1.00[CEU][hapmap]
rs7288068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397027	1.00[EUR][1000 genomes]
rs73397030	1.00[EUR][1000 genomes]
rs73397032	1.00[EUR][1000 genomes]
rs73399041	1.00[EUR][1000 genomes]
rs73399052	1.00[EUR][1000 genomes]
rs73399059	1.00[EUR][1000 genomes]
rs8138320	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8138963	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8140511	1.00[CEU][hapmap]
rs8140748	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8141696	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8141812	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8142644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9620871	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9620872	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs974370	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
2	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
4	chr22:29488400-29521200	Weak transcription	Lung	lung
5	chr22:29490000-29501600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr22:29490000-29505200	Weak transcription	Aorta	Aorta
7	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr22:29490200-29502800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:29490200-29503600	Weak transcription	HMEC	breast
10	chr22:29490400-29501400	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
13	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
14	chr22:29491600-29522200	Weak transcription	Liver	Liver
15	chr22:29491800-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:29491800-29504400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:29491800-29505400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr22:29492000-29503800	Weak transcription	NHDF-Ad	bronchial
19	chr22:29493200-29501400	Weak transcription	Ovary	ovary
20	chr22:29493200-29501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:29493200-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:29493200-29504200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:29493200-29504400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:29493200-29505400	Weak transcription	Right Ventricle	heart
25	chr22:29493200-29511600	Weak transcription	Gastric	stomach
26	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
28	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr22:29493400-29505400	Weak transcription	Small Intestine	intestine
30	chr22:29493400-29516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr22:29493600-29502600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:29493800-29511600	Weak transcription	Fetal Heart	heart
33	chr22:29494200-29505400	Weak transcription	HepG2	liver
34	chr22:29494600-29506000	Weak transcription	Left Ventricle	heart
35	chr22:29495000-29502600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr22:29495000-29504800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:29495000-29505600	Weak transcription	Right Atrium	heart
38	chr22:29495000-29509200	Weak transcription	Fetal Brain Female	brain
39	chr22:29495200-29503800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:29495200-29505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:29495200-29505400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr22:29495200-29505800	Weak transcription	Adipose Nuclei	Adipose
43	chr22:29495200-29516600	Weak transcription	Esophagus	oesophagus
44	chr22:29495400-29503600	Weak transcription	NHEK	skin
45	chr22:29495400-29505400	Weak transcription	Fetal Intestine Large	intestine
46	chr22:29495600-29504200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:29496000-29504000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:29496600-29505600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr22:29498000-29503600	Weak transcription	Placenta	Placenta
50	chr22:29498000-29505400	Weak transcription	Fetal Kidney	kidney

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