Variant report

Variant	rs8017612
Chromosome Location	chr14:67720060-67720061
allele	C/T
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:18)

rs_ID	r²[population]
rs10483796	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17104246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17781130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17781220	1.00[AFR][1000 genomes]
rs17781232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34300264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35680137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41299195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7147989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715323	1.00[AFR][1000 genomes]
rs72715374	1.00[AFR][1000 genomes]
rs72715390	1.00[AFR][1000 genomes]
rs72717303	1.00[AFR][1000 genomes]
rs72717306	1.00[AFR][1000 genomes]
rs72730454	1.00[AFR][1000 genomes]
rs72730456	1.00[AFR][1000 genomes]
rs72730457	1.00[AFR][1000 genomes]
rs8017279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67708800-67730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:67709000-67740600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:67709400-67730000	Weak transcription	Fetal Stomach	stomach
4	chr14:67709600-67720200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:67709800-67733600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:67709800-67737800	Weak transcription	Primary T cells from cord blood	blood
7	chr14:67709800-67746000	Weak transcription	Primary B cells from cord blood	blood
8	chr14:67710200-67728400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:67710600-67735000	Weak transcription	Placenta	Placenta
10	chr14:67712200-67734400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:67714400-67735000	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:67714600-67721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:67714600-67723600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:67714800-67729200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:67714800-67729800	Weak transcription	HUVEC	blood vessel
16	chr14:67715000-67730200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:67716000-67721600	Enhancers	Fetal Heart	heart
18	chr14:67716600-67720600	Enhancers	Brain Hippocampus Middle	brain
19	chr14:67716800-67721000	Weak transcription	Fetal Kidney	kidney
20	chr14:67717400-67721200	Weak transcription	HSMM	muscle
21	chr14:67717800-67720400	Enhancers	NH-A	brain
22	chr14:67717800-67720600	Enhancers	HMEC	breast
23	chr14:67717800-67721400	Enhancers	Hela-S3	cervix
24	chr14:67718000-67720600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:67718000-67720600	Enhancers	Small Intestine	intestine
26	chr14:67718000-67721600	Enhancers	Fetal Intestine Large	intestine
27	chr14:67718200-67722600	Enhancers	Fetal Intestine Small	intestine
28	chr14:67718400-67729600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:67718400-67730000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:67718600-67721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:67718600-67721400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr14:67718600-67729200	Weak transcription	HepG2	liver
33	chr14:67718800-67721000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:67718800-67722000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:67718800-67725000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:67718800-67725000	Weak transcription	Esophagus	oesophagus
37	chr14:67718800-67727200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:67718800-67734000	Weak transcription	NHEK	skin
39	chr14:67718800-67734800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:67718800-67735200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:67719000-67720400	Enhancers	NHLF	lung
42	chr14:67719200-67720400	Enhancers	Stomach Mucosa	stomach
43	chr14:67719200-67720600	Enhancers	Fetal Lung	lung
44	chr14:67719200-67720600	Enhancers	GM12878-XiMat	blood
45	chr14:67719200-67721400	Enhancers	Duodenum Mucosa	Duodenum
46	chr14:67719200-67721400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr14:67719200-67725000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:67719200-67727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:67719200-67733600	Weak transcription	Left Ventricle	heart
50	chr14:67719400-67730400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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