Variant report

Variant	rs2412107
Chromosome Location	chr14:65426216-65426217
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11623886	0.92[GIH][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs17102320	0.82[JPT][hapmap]
rs1957432	0.82[CHB][hapmap]
rs2277501	0.85[GIH][hapmap]
rs2296325	0.96[ASN][1000 genomes]
rs2296326	0.87[GIH][hapmap]
rs2412105	0.86[ASN][1000 genomes]
rs2412106	0.81[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2898885	0.93[TSI][hapmap]
rs34852276	0.86[ASW][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.83[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4899155	0.85[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4899158	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs59000318	0.85[ASN][1000 genomes]
rs6573586	0.82[ASN][1000 genomes]
rs7143541	0.82[CHB][hapmap];0.84[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs7359095	0.93[ASN][1000 genomes]
rs8004904	0.80[ASN][1000 genomes]
rs8007405	0.90[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33119	chr14:65421491-65434429	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2412107	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs2412107	CHURC1	cis	Adipose Subcutaneous	GTEx
rs2412107	MAX	cis	cerebellum	SCAN
rs2412107	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs2412107	RAB15	cis	lymphoblastoid	seeQTL
rs2412107	CHURC1	cis	Artery Tibial	GTEx
rs2412107	SNAPC1	cis	cerebellum	SCAN
rs2412107	CHURC1	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65399000-65428000	Weak transcription	NHLF	lung
2	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
3	chr14:65401600-65435000	Weak transcription	NH-A	brain
4	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
5	chr14:65409600-65428400	Strong transcription	Fetal Stomach	stomach
6	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
7	chr14:65411200-65427600	Weak transcription	A549	lung
8	chr14:65411200-65435000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:65411400-65435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
11	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
12	chr14:65415400-65428000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:65415400-65432400	Weak transcription	Ovary	ovary
14	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
15	chr14:65415600-65427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:65415600-65437600	Weak transcription	Colonic Mucosa	Colon
17	chr14:65415800-65427200	Strong transcription	Fetal Intestine Small	intestine
18	chr14:65415800-65427800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:65415800-65427800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:65416000-65427400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:65417400-65426600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:65417600-65437200	Weak transcription	Adipose Nuclei	Adipose
23	chr14:65417800-65437600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:65418000-65426600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:65418200-65428200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:65418200-65435400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:65418400-65427400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:65418400-65435000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:65418800-65426600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:65418800-65429400	Weak transcription	Fetal Intestine Large	intestine
31	chr14:65419000-65427800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:65419000-65430400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:65419000-65432600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:65419000-65433400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:65419000-65434600	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:65419000-65435400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:65419200-65427600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:65419200-65427600	Weak transcription	Brain Germinal Matrix	brain
39	chr14:65419200-65427600	Weak transcription	Right Ventricle	heart
40	chr14:65419200-65427800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:65419200-65433400	Weak transcription	Lung	lung
42	chr14:65419400-65427400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:65419400-65436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:65419400-65437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:65419600-65437600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:65419800-65427000	Weak transcription	HSMMtube	muscle
47	chr14:65419800-65427200	Weak transcription	Fetal Heart	heart
48	chr14:65420000-65427200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:65420200-65427000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:65420200-65436600	Weak transcription	Stomach Smooth Muscle	stomach

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