Variant report

Variant	rs17523639
Chromosome Location	chr14:34967465-34967466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:34932436..34934680-chr14:34965867..34967830,2	K562	blood:
2	chr14:34918625..34921655-chr14:34965491..34967777,3	MCF-7	breast:
3	chr14:34834264..34835188-chr14:34967046..34968623,5	MCF-7	breast:
4	chr14:34966374..34968147-chr14:35008912..35011090,2	MCF-7	breast:
5	chr14:34959614..34962811-chr14:34966236..34969041,3	K562	blood:
6	chr14:34965733..34968231-chr14:35022336..35025245,2	MCF-7	breast:
7	chr14:34952643..34954942-chr14:34966507..34969083,2	MCF-7	breast:
8	chr14:34799548..34803609-chr14:34964477..34969425,6	MCF-7	breast:
9	chr14:34928753..34932995-chr14:34963537..34968945,14	MCF-7	breast:
10	chr14:34830829..34832701-chr14:34965153..34968151,2	MCF-7	breast:
11	chr14:34824767..34827371-chr14:34965851..34967929,2	MCF-7	breast:
12	chr14:34904297..34907073-chr14:34966756..34968463,2	MCF-7	breast:
13	chr14:34964955..34967907-chr14:34973617..34975342,2	MCF-7	breast:
14	chr14:34800085..34801493-chr14:34967404..34968713,17	MCF-7	breast:
15	chr14:34947380..34950273-chr14:34964851..34967790,4	MCF-7	breast:
16	chr14:34930215..34933464-chr14:34966414..34969338,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165389	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000129518	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12590563	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12895007	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17523454	0.84[ASN][1000 genomes]
rs34040871	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34812984	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35455487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35804665	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4606621	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4616204	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55935721	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57333389	0.92[ASN][1000 genomes]
rs58686775	0.85[ASN][1000 genomes]
rs60151606	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7144343	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7147665	0.81[AMR][1000 genomes]
rs7148392	0.82[AMR][1000 genomes]
rs7149657	0.82[AMR][1000 genomes]
rs8006735	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34965200-34967600	Enhancers	HMEC	breast
2	chr14:34965400-34967600	Enhancers	Esophagus	oesophagus
3	chr14:34965400-34968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:34965400-34968000	Enhancers	Fetal Muscle Trunk	muscle
5	chr14:34965400-34968200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:34965600-34967600	Enhancers	NHLF	lung
7	chr14:34965600-34967800	Enhancers	Fetal Stomach	stomach
8	chr14:34966000-34967600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:34966000-34967800	Enhancers	Fetal Intestine Large	intestine
10	chr14:34966400-34968200	Enhancers	Liver	Liver
11	chr14:34966400-34985400	Weak transcription	Primary B cells from cord blood	blood
12	chr14:34966600-34967600	Enhancers	Brain Substantia Nigra	brain
13	chr14:34966600-34967600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:34966600-34967800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:34966600-34968400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr14:34966600-34971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:34966600-34971600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:34966800-34967600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:34966800-34967600	Enhancers	Brain Anterior Caudate	brain
20	chr14:34966800-34967600	Flanking Active TSS	HepG2	liver
21	chr14:34966800-34967600	Enhancers	K562	blood
22	chr14:34966800-34967600	Enhancers	Osteobl	bone
23	chr14:34966800-34968600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr14:34966800-34971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:34967000-34967600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:34967000-34967600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:34967000-34967600	Enhancers	Rectal Smooth Muscle	rectum
28	chr14:34967000-34967600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr14:34967000-34967800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:34967000-34967800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr14:34967000-34967800	Enhancers	NHEK	skin
32	chr14:34967000-34968000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:34967000-34968000	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:34967000-34968200	Weak transcription	Stomach Mucosa	stomach
35	chr14:34967000-34968400	Enhancers	Small Intestine	intestine
36	chr14:34967000-34971200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:34967000-34971200	Weak transcription	HSMM	muscle
38	chr14:34967000-34971200	Weak transcription	NH-A	brain
39	chr14:34967000-34971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:34967000-34971400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:34967000-34971400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:34967000-34971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:34967000-34971400	Weak transcription	HUVEC	blood vessel
44	chr14:34967000-34971600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:34967000-34971600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:34967000-34971800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr14:34967000-34985200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:34967000-34985200	Weak transcription	Fetal Lung	lung
49	chr14:34967200-34968200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:34967200-34968400	Enhancers	A549	lung

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