Variant report

Variant	rs9625934
Chromosome Location	chr22:30555900-30555901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12166648	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12167625	1.00[AMR][1000 genomes]
rs12168675	1.00[AMR][1000 genomes]
rs9620947	0.88[AFR][1000 genomes]
rs9625907	1.00[YRI][hapmap]
rs9625929	0.88[AFR][1000 genomes]
rs9625936	1.00[AMR][1000 genomes]
rs9625937	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30553800-30558200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:30554600-30556400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:30554600-30557200	Enhancers	Fetal Thymus	thymus
4	chr22:30554800-30557600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:30555000-30556000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:30555000-30556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:30555000-30556400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr22:30555000-30557200	Enhancers	A549	lung
9	chr22:30555000-30557600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr22:30555200-30556200	Enhancers	NHLF	lung
11	chr22:30555200-30556400	Enhancers	Liver	Liver
12	chr22:30555200-30556400	Enhancers	Hela-S3	cervix
13	chr22:30555200-30556400	Enhancers	NH-A	brain
14	chr22:30555200-30556600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:30555200-30556600	Enhancers	Osteobl	bone
16	chr22:30555200-30557600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:30555400-30556400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:30555400-30556400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr22:30555400-30556400	Enhancers	HepG2	liver
20	chr22:30555400-30556400	Enhancers	HSMM	muscle
21	chr22:30555400-30556400	Bivalent Enhancer	NHDF-Ad	bronchial
22	chr22:30555400-30556800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:30555400-30557400	Enhancers	Primary hematopoietic stem cells	blood
24	chr22:30555400-30558600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:30555600-30556200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr22:30555600-30556200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr22:30555600-30556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:30555600-30556200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr22:30555600-30556200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:30555600-30556200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:30555600-30556200	Enhancers	Fetal Muscle Leg	muscle
32	chr22:30555600-30556200	Enhancers	NHEK	skin
33	chr22:30555600-30556400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:30555600-30556400	Enhancers	HMEC	breast
35	chr22:30555600-30556400	Enhancers	HSMMtube	muscle
36	chr22:30555600-30556600	Enhancers	Fetal Lung	lung
37	chr22:30555600-30557400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:30555600-30557600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:30555600-30558200	Enhancers	Thymus	Thymus
40	chr22:30555800-30556000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:30555800-30556200	Enhancers	Adipose Nuclei	Adipose
42	chr22:30555800-30556200	Enhancers	Brain Anterior Caudate	brain
43	chr22:30555800-30556200	Enhancers	Brain Cingulate Gyrus	brain
44	chr22:30555800-30556400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr22:30555800-30556400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr22:30555800-30556400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:30555800-30557200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr22:30555800-30558200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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