Variant report

Variant	rs12100847
Chromosome Location	chr14:78309743-78309744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11159292	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11159293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17106436	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17106446	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17106552	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs17106556	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs28445375	1.00[EUR][1000 genomes]
rs28583578	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28794568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35636358	1.00[EUR][1000 genomes]
rs55637975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55854915	1.00[EUR][1000 genomes]
rs55898805	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55942240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55970713	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56014836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56056525	0.81[AFR][1000 genomes]
rs56099290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56202430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56244834	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56249119	1.00[EUR][1000 genomes]
rs56404400	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58157110	0.83[EUR][1000 genomes]
rs7149496	1.00[CEU][hapmap];0.91[EUR][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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
2	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
4	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
7	chr14:78297000-78310600	Weak transcription	Spleen	Spleen
8	chr14:78297600-78311200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:78297600-78324000	Weak transcription	Ovary	ovary
10	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
11	chr14:78297800-78311000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:78297800-78311200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:78298200-78311000	Weak transcription	Fetal Intestine Large	intestine
15	chr14:78298200-78311200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:78301400-78315400	Weak transcription	Fetal Intestine Small	intestine
20	chr14:78301400-78325200	Weak transcription	Gastric	stomach
21	chr14:78301400-78325400	Weak transcription	Lung	lung
22	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
24	chr14:78302200-78331000	Weak transcription	Liver	Liver
25	chr14:78303000-78311200	Weak transcription	Adipose Nuclei	Adipose
26	chr14:78303000-78321200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:78306000-78310000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:78306000-78310600	Weak transcription	Primary T cells from cord blood	blood
29	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
33	chr14:78306200-78310600	Weak transcription	Placenta	Placenta
34	chr14:78306600-78330400	Weak transcription	Dnd41	blood
35	chr14:78306800-78310400	Weak transcription	Fetal Stomach	stomach
36	chr14:78309200-78309800	Enhancers	GM12878-XiMat	blood
37	chr14:78309200-78310600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr14:78309400-78310000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:78309400-78310000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr14:78309400-78310000	Enhancers	Brain Substantia Nigra	brain
41	chr14:78309400-78310200	Enhancers	Brain Hippocampus Middle	brain
42	chr14:78309400-78310600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:78309600-78309800	Enhancers	Brain Germinal Matrix	brain
44	chr14:78309600-78309800	Enhancers	Fetal Brain Female	brain
45	chr14:78309600-78310000	Enhancers	Osteobl	bone
46	chr14:78309600-78310200	Enhancers	Brain Anterior Caudate	brain
47	chr14:78309600-78310400	Strong transcription	Stomach Smooth Muscle	stomach

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