Variant report

Variant	rs8135301
Chromosome Location	chr22:29504442-29504443
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29501694..29504498-chr22:29505707..29509646,4	K562	blood:

Variant related genes	Relation type
ENSG00000226772	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1022482	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10483154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12628129	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12628787	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs12628791	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs16987014	0.85[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs16987051	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16987052	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16987079	0.91[EUR][1000 genomes]
rs16987083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16987084	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35829194	0.89[EUR][1000 genomes]
rs5752865	0.87[CEU][hapmap]
rs5752869	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6519771	0.91[EUR][1000 genomes]
rs6519772	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7286554	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7286634	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7287223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7289560	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs8142545	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]

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:73 , 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	chr22:29490000-29505200	Weak transcription	Aorta	Aorta
6	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
9	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
10	chr22:29491600-29522200	Weak transcription	Liver	Liver
11	chr22:29491800-29505400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr22:29493200-29505400	Weak transcription	Right Ventricle	heart
13	chr22:29493200-29511600	Weak transcription	Gastric	stomach
14	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
16	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr22:29493400-29505400	Weak transcription	Small Intestine	intestine
18	chr22:29493400-29516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:29493800-29511600	Weak transcription	Fetal Heart	heart
20	chr22:29494200-29505400	Weak transcription	HepG2	liver
21	chr22:29494600-29506000	Weak transcription	Left Ventricle	heart
22	chr22:29495000-29504800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:29495000-29505600	Weak transcription	Right Atrium	heart
24	chr22:29495000-29509200	Weak transcription	Fetal Brain Female	brain
25	chr22:29495200-29505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:29495200-29505400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr22:29495200-29505800	Weak transcription	Adipose Nuclei	Adipose
28	chr22:29495200-29516600	Weak transcription	Esophagus	oesophagus
29	chr22:29495400-29505400	Weak transcription	Fetal Intestine Large	intestine
30	chr22:29496600-29505600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr22:29498000-29505400	Weak transcription	Fetal Kidney	kidney
32	chr22:29498400-29505800	Weak transcription	Fetal Thymus	thymus
33	chr22:29498800-29509200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:29499400-29506000	Weak transcription	Thymus	Thymus
35	chr22:29499400-29508000	Weak transcription	Brain Angular Gyrus	brain
36	chr22:29499400-29508000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr22:29499400-29508000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr22:29499600-29505400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:29499600-29505600	Weak transcription	Fetal Lung	lung
40	chr22:29499600-29506400	Weak transcription	Brain Anterior Caudate	brain
41	chr22:29499600-29507800	Weak transcription	Brain Substantia Nigra	brain
42	chr22:29499800-29507800	Weak transcription	Brain Hippocampus Middle	brain
43	chr22:29499800-29509600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr22:29500600-29505000	Strong transcription	Dnd41	blood
45	chr22:29501800-29505600	Weak transcription	Ovary	ovary
46	chr22:29502800-29505200	Strong transcription	Fetal Intestine Small	intestine
47	chr22:29503000-29505600	Strong transcription	Fetal Stomach	stomach
48	chr22:29503200-29505400	Weak transcription	Fetal Muscle Leg	muscle
49	chr22:29503200-29505600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29503200-29506000	Weak transcription	Fetal Muscle Trunk	muscle

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