Variant report

Variant	rs9625907
Chromosome Location	chr22:30434647-30434648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30417458..30419052-chr22:30433262..30435656,2	K562	blood:
2	chr22:30431981..30436228-chr22:30436988..30442132,5	MCF-7	breast:
3	chr22:30426124..30429580-chr22:30433201..30436027,3	K562	blood:

Variant related genes	Relation type
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10222284	1.00[AMR][1000 genomes]
rs11090582	1.00[EUR][1000 genomes]
rs12166580	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166648	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12166746	1.00[AMR][1000 genomes]
rs12167143	1.00[AMR][1000 genomes]
rs12167519	1.00[AMR][1000 genomes]
rs12169015	1.00[AMR][1000 genomes]
rs12169042	1.00[AMR][1000 genomes]
rs2285645	1.00[CEU][hapmap]
rs41479445	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58643523	1.00[EUR][1000 genomes]
rs59542747	1.00[EUR][1000 genomes]
rs7286724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7290848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394842	1.00[EUR][1000 genomes]
rs73400621	1.00[EUR][1000 genomes]
rs7364134	0.83[AFR][1000 genomes]
rs9620930	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9620939	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9620945	1.00[AMR][1000 genomes]
rs9620947	1.00[AMR][1000 genomes]
rs9625869	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625903	1.00[EUR][1000 genomes]
rs9625929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:30424600-30435600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:30424800-30443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:30425200-30435800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:30425200-30438800	Weak transcription	Fetal Intestine Large	intestine
6	chr22:30425200-30440000	Weak transcription	Fetal Lung	lung
7	chr22:30425200-30440200	Weak transcription	Brain Germinal Matrix	brain
8	chr22:30425600-30439400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:30425800-30434800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr22:30425800-30435400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr22:30425800-30439800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:30425800-30442000	Weak transcription	Fetal Brain Female	brain
13	chr22:30426600-30443000	Weak transcription	Thymus	Thymus
14	chr22:30429400-30439800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:30429800-30435000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:30430200-30442800	Weak transcription	Spleen	Spleen
17	chr22:30430200-30449600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:30430400-30435800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr22:30430800-30436200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:30430800-30439400	Weak transcription	Fetal Intestine Small	intestine
21	chr22:30431800-30435200	Enhancers	Placenta	Placenta
22	chr22:30432400-30435000	Enhancers	Hela-S3	cervix
23	chr22:30432800-30438800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:30432800-30439600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr22:30432800-30439800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:30432800-30440800	Weak transcription	Fetal Stomach	stomach
27	chr22:30433000-30436200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr22:30433600-30435000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:30433600-30435000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr22:30433600-30435000	Enhancers	HMEC	breast
31	chr22:30433600-30435000	Enhancers	NH-A	brain
32	chr22:30433600-30435000	Enhancers	NHDF-Ad	bronchial
33	chr22:30433800-30435000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:30433800-30435000	Enhancers	NHEK	skin
35	chr22:30433800-30435000	Enhancers	Osteobl	bone
36	chr22:30434000-30434800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr22:30434000-30434800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr22:30434000-30435000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr22:30434000-30435000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:30434000-30435000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:30434000-30435000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:30434000-30435000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:30434000-30435000	Enhancers	Adipose Nuclei	Adipose
44	chr22:30434000-30435000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr22:30434000-30435000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr22:30434000-30435000	Enhancers	HSMM	muscle
47	chr22:30434000-30435200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr22:30434200-30435000	Enhancers	Fetal Muscle Leg	muscle
49	chr22:30434200-30435000	Enhancers	Gastric	stomach
50	chr22:30434200-30435000	Enhancers	Lung	lung

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