Variant report

Variant	rs2371601
Chromosome Location	chr14:81898929-81898930
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81857190..81860023-chr14:81897316..81899061,2	K562	blood:
2	chr14:81684220..81688666-chr14:81897892..81904337,14	K562	blood:
3	chr14:81686434..81690024-chr14:81894186..81899111,7	K562	blood:
4	chr14:81683389..81688783-chr14:81897521..81903580,11	MCF-7	breast:
5	chr14:81859822..81862537-chr14:81898596..81900276,2	K562	blood:
6	chr14:81865299..81866947-chr14:81897451..81900314,2	K562	blood:
7	chr14:81862726..81865080-chr14:81898700..81900401,2	K562	blood:
8	chr14:81891122..81893779-chr14:81898333..81900106,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140022	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11159500	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12100504	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12100962	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12100967	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs12101219	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12185025	1.00[YRI][hapmap]
rs12434541	1.00[YRI][hapmap]
rs12435998	1.00[YRI][hapmap]
rs12586522	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12586556	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12586611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12586817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589111	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12589155	1.00[AMR][1000 genomes]
rs12589750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12590539	0.96[ASN][1000 genomes]
rs17111805	1.00[YRI][hapmap]
rs17111807	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17111815	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs17111817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17111825	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17111839	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17111840	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17111848	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs17560087	1.00[YRI][hapmap]
rs1998386	1.00[YRI][hapmap]
rs28409508	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3853422	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60733078	0.86[ASN][1000 genomes]
rs72689300	0.85[AFR][1000 genomes]
rs72689302	0.85[AFR][1000 genomes]
rs72691409	0.85[AFR][1000 genomes]
rs72703756	0.85[AFR][1000 genomes]
rs72703758	0.85[AFR][1000 genomes]
rs72703764	0.85[AFR][1000 genomes]
rs731389	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs731390	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73344113	0.86[ASN][1000 genomes]
rs73344115	0.86[ASN][1000 genomes]
rs73344119	0.86[ASN][1000 genomes]
rs73344128	0.96[ASN][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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
4	nsv510645	chr14:81874624-81907004	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv1807931	chr14:81878972-81908605	Bivalent Enhancer Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv1842834	chr14:81878972-81908605	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv1844298	chr14:81878972-81908605	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:81893600-81901400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr14:81894000-81901600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:81894200-81899200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:81894400-81900800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:81894400-81901400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:81894600-81899000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:81894600-81899400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:81894600-81899400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:81894600-81900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:81894800-81899600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:81894800-81899800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:81894800-81900000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:81894800-81901200	Weak transcription	Hela-S3	cervix
15	chr14:81895000-81899200	Weak transcription	Spleen	Spleen
16	chr14:81896200-81900600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:81896200-81901000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:81897000-81901400	Weak transcription	Ovary	ovary
19	chr14:81897600-81899800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:81897600-81900000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:81897600-81900600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:81897600-81900600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:81897600-81901400	Weak transcription	Liver	Liver
24	chr14:81898000-81899600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:81898000-81901400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:81898200-81899200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:81898200-81901000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:81898200-81901200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:81898200-81901200	Enhancers	HMEC	breast
30	chr14:81898400-81899000	Flanking Active TSS	K562	blood
31	chr14:81898400-81899200	Enhancers	NHDF-Ad	bronchial
32	chr14:81898400-81899400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:81898400-81899800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:81898400-81900200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:81898600-81899000	Enhancers	HSMM	muscle
36	chr14:81898600-81899200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:81898600-81899400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:81898600-81899400	Enhancers	Brain Substantia Nigra	brain
39	chr14:81898600-81899400	Flanking Active TSS	NHEK	skin
40	chr14:81898600-81899600	Enhancers	Fetal Muscle Leg	muscle
41	chr14:81898600-81899800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr14:81898600-81900000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:81898600-81900000	Enhancers	Brain Anterior Caudate	brain
44	chr14:81898600-81900400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr14:81898800-81899000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:81898800-81899200	Enhancers	Brain Germinal Matrix	brain
47	chr14:81898800-81899600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr14:81898800-81900400	Enhancers	Psoas Muscle	Psoas

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