Variant report

Variant	rs34654496
Chromosome Location	chr14:39897415-39897416
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39896098..39898200-chr14:39898553..39902870,7	MCF-7	breast:
2	chr14:39892960..39898062-chr14:39898504..39901618,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165355	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1056345	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12879584	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12881098	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12884137	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12885079	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12886403	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17621388	0.81[AFR][1000 genomes]
rs17694832	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17696574	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1955704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415546	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34173090	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34629111	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34651350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34697019	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34785385	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34829840	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34983854	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35026953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35297616	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35690918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36090203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152028	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72675474	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72677625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][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	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39864600-39898800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:39865000-39898200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:39886600-39898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:39886600-39900000	Weak transcription	Esophagus	oesophagus
5	chr14:39886600-39900000	Weak transcription	Pancreas	Pancrea
6	chr14:39886800-39899200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:39886800-39899600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:39887000-39899200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:39887600-39898000	Weak transcription	Fetal Stomach	stomach
10	chr14:39889600-39898800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:39889800-39898800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:39890600-39897800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr14:39890600-39897800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:39890600-39897800	Weak transcription	Fetal Brain Female	brain
15	chr14:39891000-39898400	Weak transcription	Fetal Kidney	kidney
16	chr14:39891200-39897600	Weak transcription	Fetal Brain Male	brain
17	chr14:39891200-39898800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:39891800-39898800	Weak transcription	Aorta	Aorta
19	chr14:39891800-39898800	Weak transcription	Gastric	stomach
20	chr14:39891800-39898800	Weak transcription	Ovary	ovary
21	chr14:39891800-39898800	Weak transcription	Right Ventricle	heart
22	chr14:39891800-39899000	Weak transcription	Fetal Intestine Small	intestine
23	chr14:39891800-39899000	Weak transcription	Small Intestine	intestine
24	chr14:39892800-39898000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:39893000-39899400	Weak transcription	Fetal Intestine Large	intestine
26	chr14:39893600-39898000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:39893600-39898800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:39894400-39898800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:39894400-39898800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr14:39894800-39898800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr14:39895400-39898800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr14:39895400-39898800	Enhancers	Dnd41	blood
33	chr14:39895800-39897800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr14:39895800-39899000	Weak transcription	Spleen	Spleen
35	chr14:39896000-39897600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:39896000-39897600	Weak transcription	Brain Substantia Nigra	brain
37	chr14:39896000-39897800	Weak transcription	Brain Angular Gyrus	brain
38	chr14:39896000-39898000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:39896000-39898000	Weak transcription	Colon Smooth Muscle	Colon
40	chr14:39896000-39898400	Weak transcription	NHEK	skin
41	chr14:39896000-39898600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:39896000-39898800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:39896000-39898800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:39896000-39898800	Weak transcription	NHDF-Ad	bronchial
45	chr14:39896000-39899000	Weak transcription	Placenta	Placenta
46	chr14:39896000-39899800	Weak transcription	HSMM	muscle
47	chr14:39896000-39900000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:39896000-39900200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:39896200-39897600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:39896200-39897600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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