Variant report

Variant	rs34247115
Chromosome Location	chr14:31800208-31800209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11156667	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11622544	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2094130	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8005942	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34247115	C14orf126	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
2	chr14:31768000-31805800	Weak transcription	NHEK	skin
3	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:31774400-31800400	Weak transcription	Brain Angular Gyrus	brain
8	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
9	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
11	chr14:31782200-31875200	Weak transcription	Gastric	stomach
12	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
13	chr14:31787200-31809200	Weak transcription	NHLF	lung
14	chr14:31789800-31805800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:31789800-31806800	Weak transcription	Psoas Muscle	Psoas
16	chr14:31790000-31801000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:31790800-31801000	Weak transcription	HSMMtube	muscle
18	chr14:31791200-31812600	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:31791600-31801000	Weak transcription	HSMM	muscle
20	chr14:31791600-31801200	Weak transcription	Hela-S3	cervix
21	chr14:31791600-31806000	Weak transcription	NHDF-Ad	bronchial
22	chr14:31793000-31800600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:31794600-31800400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:31796800-31808800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:31797000-31809000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:31797200-31801000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:31797600-31800600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:31797600-31801800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr14:31797800-31801200	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr14:31798000-31802000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr14:31798200-31800800	ZNF genes & repeats	HepG2	liver
32	chr14:31798200-31801400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr14:31798200-31807600	Strong transcription	Osteobl	bone
34	chr14:31798400-31804000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:31798600-31800400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:31798600-31800400	ZNF genes & repeats	Fetal Stomach	stomach
37	chr14:31798600-31801200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:31798600-31801200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
39	chr14:31798600-31801200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
40	chr14:31798600-31801600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr14:31798600-31801800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr14:31798600-31801800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:31798600-31802000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr14:31798600-31803800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:31798600-31803800	Strong transcription	Fetal Lung	lung
46	chr14:31798800-31800400	ZNF genes & repeats	Placenta	Placenta
47	chr14:31798800-31801200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:31798800-31801200	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr14:31798800-31801400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:31798800-31801800	Strong transcription	Left Ventricle	heart

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