Variant report

Variant	rs8012896
Chromosome Location	chr14:35777358-35777359
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35777000..35779255-chr14:35781790..35784953,3	K562	blood:

Variant related genes	Relation type
ENSG00000100902	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10135636	0.84[EUR][1000 genomes]
rs10140180	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10140819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10141237	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142113	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10144186	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151128	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10467708	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458583	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597267	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597281	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2277460	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28461608	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28522717	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28714617	0.81[EUR][1000 genomes]
rs4982257	0.83[EUR][1000 genomes]
rs60707741	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7140912	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7158019	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014594	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017330	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017676	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9806058	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3417715	chr14:35777153-35778214	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35762600-35778400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:35762800-35778600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:35762800-35778800	Weak transcription	Aorta	Aorta
4	chr14:35763200-35778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:35763200-35780000	Weak transcription	Fetal Kidney	kidney
6	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:35763600-35778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:35763800-35777600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:35763800-35777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:35763800-35777800	Weak transcription	HSMM	muscle
11	chr14:35763800-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:35763800-35778600	Weak transcription	Colonic Mucosa	Colon
13	chr14:35763800-35778600	Weak transcription	Esophagus	oesophagus
14	chr14:35763800-35778600	Weak transcription	Ovary	ovary
15	chr14:35763800-35779200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:35764000-35778200	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:35764000-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:35764000-35779200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:35764200-35778200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:35764400-35777800	Weak transcription	NHLF	lung
21	chr14:35764600-35778600	Weak transcription	Brain Anterior Caudate	brain
22	chr14:35764600-35778600	Weak transcription	Brain Germinal Matrix	brain
23	chr14:35765200-35778600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:35765200-35778800	Weak transcription	Brain Angular Gyrus	brain
25	chr14:35765200-35779800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:35765400-35778400	Weak transcription	Fetal Brain Female	brain
27	chr14:35765400-35778800	Weak transcription	Gastric	stomach
28	chr14:35765400-35779400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:35765400-35782400	Weak transcription	K562	blood
30	chr14:35765800-35778600	Weak transcription	Lung	lung
31	chr14:35766200-35792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:35766400-35777400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:35766400-35777600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:35767200-35779600	Weak transcription	Brain Substantia Nigra	brain
35	chr14:35769200-35778200	Weak transcription	NH-A	brain
36	chr14:35769200-35780600	Weak transcription	NHDF-Ad	bronchial
37	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:35769400-35777600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:35769400-35778600	Weak transcription	HMEC	breast
40	chr14:35769600-35777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:35769600-35777800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:35769800-35778600	Weak transcription	Spleen	Spleen
43	chr14:35770000-35777400	Weak transcription	Adipose Nuclei	Adipose
44	chr14:35770200-35777400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:35770200-35777800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr14:35770200-35779400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:35770400-35789000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:35770800-35778600	Weak transcription	Left Ventricle	heart
49	chr14:35771000-35778400	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:35771200-35778400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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