Variant report

Variant	rs8138963
Chromosome Location	chr22:29493192-29493193
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	chr22:29491726..29493460-chr22:29507047..29509625,2	K562	blood:
2	chr22:29492716..29496133-chr22:29496800..29499655,3	K562	blood:

Variant related genes	Relation type
ENSG00000226772	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11912894	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11913224	1.00[EUR][1000 genomes]
rs11913805	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16987065	1.00[CEU][hapmap]
rs16987067	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16987167	1.00[CEU][hapmap]
rs41382448	1.00[CEU][hapmap]
rs4508707	1.00[CEU][hapmap]
rs55665300	1.00[EUR][1000 genomes]
rs55945584	1.00[EUR][1000 genomes]
rs56089216	1.00[EUR][1000 genomes]
rs56332784	1.00[EUR][1000 genomes]
rs57119189	1.00[EUR][1000 genomes]
rs57188271	1.00[EUR][1000 genomes]
rs57198336	1.00[EUR][1000 genomes]
rs5762930	1.00[CEU][hapmap]
rs5762931	1.00[CEU][hapmap]
rs58089713	1.00[EUR][1000 genomes]
rs58162235	1.00[EUR][1000 genomes]
rs58221763	1.00[EUR][1000 genomes]
rs59519868	1.00[EUR][1000 genomes]
rs59546292	1.00[EUR][1000 genomes]
rs60003056	1.00[EUR][1000 genomes]
rs6005942	1.00[EUR][1000 genomes]
rs60187407	1.00[EUR][1000 genomes]
rs60747358	1.00[EUR][1000 genomes]
rs61581392	1.00[EUR][1000 genomes]
rs6519779	1.00[CEU][hapmap]
rs722590	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs725281	1.00[CEU][hapmap]
rs7287244	1.00[EUR][1000 genomes]
rs7288068	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881187	1.00[EUR][1000 genomes]
rs73881189	1.00[EUR][1000 genomes]
rs73881197	1.00[EUR][1000 genomes]
rs73881200	1.00[EUR][1000 genomes]
rs73881201	1.00[EUR][1000 genomes]
rs73882404	1.00[EUR][1000 genomes]
rs73882405	1.00[EUR][1000 genomes]
rs73882406	1.00[EUR][1000 genomes]
rs73882414	1.00[EUR][1000 genomes]
rs73882422	1.00[EUR][1000 genomes]
rs73882424	1.00[EUR][1000 genomes]
rs73882428	1.00[EUR][1000 genomes]
rs73882440	1.00[EUR][1000 genomes]
rs73882443	1.00[EUR][1000 genomes]
rs73882445	1.00[EUR][1000 genomes]
rs73882447	1.00[EUR][1000 genomes]
rs73882449	1.00[EUR][1000 genomes]
rs8138320	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8139248	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];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8141696	1.00[CEU][hapmap]
rs8141812	1.00[CEU][hapmap]
rs8142644	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620871	1.00[CEU][hapmap]
rs9620872	1.00[CEU][hapmap]
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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
2	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
4	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:29486600-29494800	Weak transcription	NHEK	skin
7	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
8	chr22:29488400-29521200	Weak transcription	Lung	lung
9	chr22:29488600-29494800	Weak transcription	Placenta	Placenta
10	chr22:29489000-29494800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:29489200-29494800	Weak transcription	Adipose Nuclei	Adipose
12	chr22:29489600-29499800	Strong transcription	Dnd41	blood
13	chr22:29490000-29501600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:29490000-29505200	Weak transcription	Aorta	Aorta
15	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:29490200-29502800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:29490200-29503600	Weak transcription	HMEC	breast
18	chr22:29490400-29499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:29490400-29501400	Weak transcription	Colon Smooth Muscle	Colon
20	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
22	chr22:29490600-29495000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:29491000-29493200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
25	chr22:29491600-29495000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:29491600-29522200	Weak transcription	Liver	Liver
27	chr22:29491800-29494600	Weak transcription	Fetal Brain Female	brain
28	chr22:29491800-29494800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:29491800-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:29491800-29504400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:29491800-29505400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr22:29492000-29494400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr22:29492000-29494400	Weak transcription	Fetal Thymus	thymus
34	chr22:29492000-29501000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr22:29492000-29503800	Weak transcription	NHDF-Ad	bronchial
36	chr22:29492200-29493200	Enhancers	Gastric	stomach
37	chr22:29492200-29493200	Enhancers	Ovary	ovary
38	chr22:29492200-29493600	Enhancers	Brain Substantia Nigra	brain
39	chr22:29492200-29493800	Enhancers	Fetal Heart	heart
40	chr22:29492200-29494600	Enhancers	Left Ventricle	heart
41	chr22:29492400-29493200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:29492400-29493400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:29492400-29493400	Enhancers	Brain Cingulate Gyrus	brain
44	chr22:29492400-29493400	Genic enhancers	Fetal Muscle Leg	muscle
45	chr22:29492400-29493400	Enhancers	Stomach Mucosa	stomach
46	chr22:29492400-29493600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:29492400-29493600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr22:29492400-29493600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr22:29492400-29493600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:29492400-29493600	Enhancers	Brain Inferior Temporal Lobe	brain

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