Variant report

Variant	rs12894892
Chromosome Location	chr14:35435050-35435051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35430162..35434482-chr14:35434976..35439153,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11622604	1.00[CEU][hapmap]
rs34028491	1.00[AFR][1000 genomes]
rs35547202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35629948	1.00[EUR][1000 genomes]
rs35823732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45532641	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv901603	chr14:35371697-35435651	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
9	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
12	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35401000-35440400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:35411800-35450000	Weak transcription	Brain Angular Gyrus	brain
3	chr14:35413200-35435200	Weak transcription	A549	lung
4	chr14:35413400-35449600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:35414000-35435200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:35417400-35449400	Weak transcription	Dnd41	blood
7	chr14:35417800-35436800	Weak transcription	Osteobl	bone
8	chr14:35417800-35438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:35417800-35439200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:35418200-35446000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:35418800-35449600	Weak transcription	Placenta	Placenta
13	chr14:35419000-35445000	Weak transcription	Pancreas	Pancrea
14	chr14:35419600-35437000	Weak transcription	Left Ventricle	heart
15	chr14:35419600-35449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:35419800-35449600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:35420000-35440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:35420000-35441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:35420000-35450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:35420000-35450000	Weak transcription	Small Intestine	intestine
21	chr14:35420400-35450200	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:35420800-35440600	Weak transcription	HSMMtube	muscle
23	chr14:35420800-35440600	Weak transcription	NHDF-Ad	bronchial
24	chr14:35421000-35437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:35421200-35440600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:35421200-35449600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:35421200-35449600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
29	chr14:35422000-35450000	Weak transcription	Brain Substantia Nigra	brain
30	chr14:35423800-35443800	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:35423800-35450000	Weak transcription	Colonic Mucosa	Colon
32	chr14:35424000-35437400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:35424000-35440600	Weak transcription	NHEK	skin
34	chr14:35424000-35441000	Weak transcription	NHLF	lung
35	chr14:35424000-35449600	Weak transcription	Brain Germinal Matrix	brain
36	chr14:35424000-35449600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:35424400-35437400	Weak transcription	Fetal Lung	lung
38	chr14:35425200-35441000	Weak transcription	Psoas Muscle	Psoas
39	chr14:35425800-35435200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:35425800-35435200	Weak transcription	HUVEC	blood vessel
41	chr14:35425800-35435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:35425800-35437600	Weak transcription	Hela-S3	cervix
43	chr14:35425800-35438200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:35425800-35450000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:35425800-35450000	Weak transcription	Right Ventricle	heart
46	chr14:35425800-35450600	Weak transcription	Ovary	ovary
47	chr14:35426000-35435200	Weak transcription	Adipose Nuclei	Adipose
48	chr14:35426000-35436800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:35426000-35436800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:35426000-35442200	Weak transcription	Brain Anterior Caudate	brain

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