Variant report

Variant	rs9614158
Chromosome Location	chr22:30597880-30597881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30590030..30593992-chr22:30596510..30599068,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10048885	0.81[ASN][1000 genomes]
rs17728461	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2023682	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2023683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41162	0.85[MKK][hapmap];1.00[YRI][hapmap]
rs41172	0.82[CHB][hapmap]
rs41174	0.82[CHB][hapmap]
rs718772	0.81[MKK][hapmap];1.00[YRI][hapmap]
rs8141404	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs9614157	0.93[EUR][1000 genomes]
rs9614159	0.88[AFR][1000 genomes]
rs9614160	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9614162	0.88[ASW][hapmap];0.92[MKK][hapmap];0.82[YRI][hapmap]
rs9614163	0.81[ASN][1000 genomes]
rs9625919	1.00[YRI][hapmap]

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	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
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3441265	chr22:30597552-30601950	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs9614158	NEFH	cis	parietal	SCAN
rs9614158	CRYBB1	cis	cerebellum	SCAN
rs9614158	KIAA1671	cis	cerebellum	SCAN
rs9614158	LIMK2	cis	parietal	SCAN
rs9614158	MTMR3	cis	parietal	SCAN
rs9614158	TTC28	cis	cerebellum	SCAN
rs9614158	C22orf42	cis	cerebellum	SCAN
rs9614158	TPST2	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30592000-30601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr22:30592600-30598200	Weak transcription	Esophagus	oesophagus
3	chr22:30592800-30598000	Weak transcription	Gastric	stomach
4	chr22:30592800-30602800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:30592800-30604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:30593000-30598000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:30593200-30598000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:30593200-30598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:30593200-30598600	Weak transcription	Lung	lung
10	chr22:30593200-30600600	Weak transcription	Spleen	Spleen
11	chr22:30593400-30598200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:30593400-30598600	Weak transcription	Placenta	Placenta
13	chr22:30593600-30598200	Weak transcription	HSMMtube	muscle
14	chr22:30593600-30598400	Weak transcription	Fetal Intestine Large	intestine
15	chr22:30593600-30598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr22:30593600-30600800	Weak transcription	Small Intestine	intestine
17	chr22:30593600-30603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:30593800-30598000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:30593800-30600400	Weak transcription	Osteobl	bone
20	chr22:30594400-30598600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:30595000-30600400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:30595200-30598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:30595400-30598200	Weak transcription	Fetal Thymus	thymus
24	chr22:30595600-30600800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr22:30597000-30598200	Weak transcription	Pancreas	Pancrea
26	chr22:30597000-30598400	Enhancers	Hela-S3	cervix
27	chr22:30597400-30598600	Weak transcription	A549	lung
28	chr22:30597600-30603000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
30	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr22:30597800-30598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:30597800-30598000	Enhancers	NH-A	brain
33	chr22:30597800-30598200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:30597800-30598600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:30597800-30598600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr22:30597800-30599000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr22:30597800-30599000	Enhancers	Fetal Kidney	kidney
38	chr22:30597800-30599000	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr22:30597800-30599000	ZNF genes & repeats	NHEK	skin
40	chr22:30597800-30599200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:30597800-30599200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:30597800-30599200	Enhancers	Fetal Stomach	stomach
43	chr22:30597800-30599600	Enhancers	Fetal Lung	lung
44	chr22:30597800-30601200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:30597800-30601200	Enhancers	HSMM	muscle
46	chr22:30597800-30601200	Enhancers	NHDF-Ad	bronchial
47	chr22:30597800-30602400	Enhancers	Duodenum Mucosa	Duodenum

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