Variant report

Variant	rs12885507
Chromosome Location	chr14:31434135-31434136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34527888	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66819332	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7158162	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31360200-31435600	Weak transcription	Gastric	stomach
3	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
4	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
5	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
6	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
8	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
9	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:31413400-31435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:31414800-31434200	Weak transcription	Fetal Kidney	kidney
15	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:31415800-31435200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:31416000-31435200	Weak transcription	Spleen	Spleen
18	chr14:31416000-31435400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:31416000-31435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:31416000-31435600	Weak transcription	NHLF	lung
21	chr14:31416200-31435600	Weak transcription	Thymus	Thymus
22	chr14:31416600-31435600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:31416600-31435800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:31417000-31435200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:31417000-31435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:31420000-31435400	Weak transcription	Fetal Thymus	thymus
27	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:31420800-31435400	Weak transcription	NHDF-Ad	bronchial
29	chr14:31423200-31435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:31423200-31435200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:31423400-31435400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:31423400-31435400	Weak transcription	NHEK	skin
33	chr14:31423400-31435600	Weak transcription	Hela-S3	cervix
34	chr14:31424000-31435200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:31424200-31435200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr14:31424400-31435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:31424400-31435200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:31424400-31435200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:31424400-31435600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:31424400-31435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:31424800-31434600	Weak transcription	Placenta	Placenta
42	chr14:31424800-31435200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:31425200-31435600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:31425400-31434400	Weak transcription	HMEC	breast
45	chr14:31425400-31435200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:31425400-31435600	Weak transcription	Osteobl	bone
47	chr14:31425600-31435200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:31425600-31435200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:31425600-31435200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:31425600-31435400	Weak transcription	HSMM	muscle

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