Variant report

Variant	rs7158989
Chromosome Location	chr14:55585558-55585559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55583659..55586455-chr14:55591189..55593234,2	K562	blood:
2	chr14:55583230..55586186-chr14:55586316..55587998,2	K562	blood:
3	chr14:55577226..55578815-chr14:55585126..55587716,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10130894	1.00[CHB][hapmap]
rs10146943	1.00[CHB][hapmap]
rs10498474	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10498475	0.80[CEU][hapmap]
rs11850516	0.88[ASN][1000 genomes]
rs11851945	0.85[ASN][1000 genomes]
rs17128230	0.88[ASN][1000 genomes]
rs17128262	1.00[CHB][hapmap];0.83[CHD][hapmap];0.88[ASN][1000 genomes]
rs17128275	0.85[ASN][1000 genomes]
rs17128277	0.85[ASN][1000 genomes]
rs17128292	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs17128370	1.00[CHB][hapmap]
rs17671923	0.80[CEU][hapmap]
rs17672376	0.80[CEU][hapmap]
rs17672950	0.80[CEU][hapmap]
rs17740413	0.80[CEU][hapmap]
rs1886784	1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs1887494	0.82[ASN][1000 genomes]
rs2075598	0.82[CHD][hapmap];0.88[ASN][1000 genomes]
rs2274272	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs2340930	0.94[EUR][1000 genomes]
rs28408795	0.85[ASN][1000 genomes]
rs28436894	0.91[ASN][1000 genomes]
rs28681113	0.91[ASN][1000 genomes]
rs3759666	1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs55673612	0.88[ASN][1000 genomes]
rs55772085	0.88[ASN][1000 genomes]
rs55848305	0.88[ASN][1000 genomes]
rs56192604	0.85[ASN][1000 genomes]
rs56358335	0.88[ASN][1000 genomes]
rs57064758	0.88[ASN][1000 genomes]
rs57196783	0.88[ASN][1000 genomes]
rs57750925	0.88[ASN][1000 genomes]
rs58737648	0.85[ASN][1000 genomes]
rs6573004	0.88[ASN][1000 genomes]
rs7141563	0.85[ASN][1000 genomes]
rs7141706	0.80[CEU][hapmap]
rs7147666	0.85[ASN][1000 genomes]
rs7148663	1.00[CHB][hapmap]
rs7148957	0.88[ASN][1000 genomes]
rs7149385	0.91[ASN][1000 genomes]
rs7150083	0.91[ASN][1000 genomes]
rs7152543	0.91[ASN][1000 genomes]
rs7153322	0.91[ASN][1000 genomes]
rs7154368	0.85[ASN][1000 genomes]
rs7155936	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7156997	0.91[ASN][1000 genomes]
rs7157000	0.91[ASN][1000 genomes]
rs7157585	0.85[ASN][1000 genomes]
rs7159530	0.88[ASN][1000 genomes]
rs7160411	0.80[CEU][hapmap];0.92[MEX][hapmap]
rs7161564	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs72716670	0.91[ASN][1000 genomes]
rs74050921	0.88[ASN][1000 genomes]
rs74050928	0.88[ASN][1000 genomes]
rs74050932	0.85[ASN][1000 genomes]
rs74050937	0.82[ASN][1000 genomes]
rs8004899	0.91[ASN][1000 genomes]
rs8005218	0.91[ASN][1000 genomes]
rs8009060	0.85[ASN][1000 genomes]
rs8009181	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[ASN][1000 genomes]
rs8009244	0.82[EUR][1000 genomes]
rs8010751	0.85[ASN][1000 genomes]
rs8010791	0.85[ASN][1000 genomes]
rs8010993	0.85[ASN][1000 genomes]
rs8011980	0.88[ASN][1000 genomes]
rs8012397	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8013528	0.91[CEU][hapmap]
rs8021832	0.85[ASN][1000 genomes]
rs8022101	0.88[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7158989	MAPK1IP1L	cis	cerebellum	SCAN
rs7158989	FBXO34	cis	cerebellum	SCAN
rs7158989	L2HGDH	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55570000-55594800	Enhancers	Fetal Intestine Large	intestine
2	chr14:55575000-55589600	Weak transcription	Small Intestine	intestine
3	chr14:55577600-55594800	Enhancers	Fetal Intestine Small	intestine
4	chr14:55578400-55588000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:55580200-55589000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:55581400-55585600	Enhancers	Stomach Mucosa	stomach
7	chr14:55582000-55585600	Enhancers	Left Ventricle	heart
8	chr14:55582200-55585600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr14:55582200-55585800	Enhancers	K562	blood
10	chr14:55582200-55588200	Enhancers	Right Atrium	heart
11	chr14:55582200-55595600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:55582400-55589000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:55583600-55587200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:55583600-55588800	Weak transcription	Fetal Kidney	kidney
15	chr14:55583800-55586600	Weak transcription	Spleen	Spleen
16	chr14:55583800-55587400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:55583800-55589200	Weak transcription	Lung	lung
18	chr14:55583800-55589200	Weak transcription	Pancreas	Pancrea
19	chr14:55583800-55591600	Weak transcription	Gastric	stomach
20	chr14:55584000-55585600	Enhancers	HepG2	liver
21	chr14:55584000-55587600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr14:55584400-55585600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:55584400-55585600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:55584400-55585600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:55584400-55585600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:55584400-55585600	Enhancers	Fetal Muscle Leg	muscle
27	chr14:55584400-55585600	Enhancers	Fetal Thymus	thymus
28	chr14:55584400-55585600	Enhancers	Hela-S3	cervix
29	chr14:55584400-55585600	Enhancers	NHEK	skin
30	chr14:55584400-55585600	Enhancers	Osteobl	bone
31	chr14:55584400-55585800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:55584400-55586600	Enhancers	Adipose Nuclei	Adipose
33	chr14:55584400-55587000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:55584400-55589800	Enhancers	Colonic Mucosa	Colon
35	chr14:55584600-55585600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:55584600-55585600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr14:55584600-55585600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr14:55584600-55585800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:55584600-55586800	Enhancers	Ovary	ovary
40	chr14:55584600-55587200	Enhancers	Fetal Heart	heart
41	chr14:55584600-55592600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr14:55584800-55585600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:55584800-55585600	Enhancers	HSMMtube	muscle
44	chr14:55584800-55585800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:55585000-55586200	Weak transcription	Esophagus	oesophagus
46	chr14:55585000-55586200	Weak transcription	Right Ventricle	heart
47	chr14:55585000-55587000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:55585000-55587200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr14:55585000-55589000	Weak transcription	Colon Smooth Muscle	Colon
50	chr14:55585000-55589400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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