Variant report

Variant	rs41479445
Chromosome Location	chr22:30431242-30431243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10222284	1.00[AMR][1000 genomes]
rs11090582	1.00[EUR][1000 genomes]
rs12166580	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166648	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]
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]
rs9620930	0.84[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625903	1.00[EUR][1000 genomes]
rs9625907	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625929	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:30409000-30432800	Strong transcription	Fetal Stomach	stomach
4	chr22:30419600-30434400	Weak transcription	Small Intestine	intestine
5	chr22:30422400-30434200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:30422400-30434200	Weak transcription	HUVEC	blood vessel
7	chr22:30423000-30432600	Weak transcription	NH-A	brain
8	chr22:30423400-30432400	Weak transcription	Stomach Mucosa	stomach
9	chr22:30423400-30434400	Weak transcription	A549	lung
10	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:30424200-30434000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:30424400-30431400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr22:30424600-30432600	Weak transcription	HMEC	breast
14	chr22:30424600-30435600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:30424800-30432400	Weak transcription	Colonic Mucosa	Colon
16	chr22:30424800-30443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:30425000-30434200	Weak transcription	Gastric	stomach
18	chr22:30425200-30431600	Weak transcription	Esophagus	oesophagus
19	chr22:30425200-30432400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:30425200-30432400	Weak transcription	HSMMtube	muscle
21	chr22:30425200-30434000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr22:30425200-30434200	Weak transcription	Pancreas	Pancrea
23	chr22:30425200-30434200	Weak transcription	NHLF	lung
24	chr22:30425200-30435800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:30425200-30438800	Weak transcription	Fetal Intestine Large	intestine
26	chr22:30425200-30440000	Weak transcription	Fetal Lung	lung
27	chr22:30425200-30440200	Weak transcription	Brain Germinal Matrix	brain
28	chr22:30425400-30432200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:30425400-30432400	Weak transcription	NHEK	skin
30	chr22:30425400-30432400	Weak transcription	Osteobl	bone
31	chr22:30425600-30439400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr22:30425800-30432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:30425800-30433000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:30425800-30433800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:30425800-30434000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr22:30425800-30434800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr22:30425800-30435400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr22:30425800-30439800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr22:30425800-30442000	Weak transcription	Fetal Brain Female	brain
40	chr22:30426000-30432400	Weak transcription	HSMM	muscle
41	chr22:30426000-30434400	Weak transcription	Left Ventricle	heart
42	chr22:30426200-30432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:30426200-30434000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:30426200-30434200	Weak transcription	Lung	lung
45	chr22:30426400-30431800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr22:30426600-30443000	Weak transcription	Thymus	Thymus
47	chr22:30427200-30432400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:30427400-30431800	Weak transcription	Placenta	Placenta
49	chr22:30427600-30432600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr22:30429200-30434200	Weak transcription	Psoas Muscle	Psoas

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