Variant report

Variant	rs1547012
Chromosome Location	chr14:69063430-69063431
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69061025..69063576-chr14:69260418..69262732,3	K562	blood:
2	chr14:69061649..69064436-chr14:69261029..69262556,2	MCF-7	breast:
3	chr14:69058975..69063835-chr14:69063915..69067303,5	MCF-7	breast:
4	chr14:69059475..69061008-chr14:69062632..69064559,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12878761	0.95[CEU][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12894230	0.95[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17829341	0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2257111	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2257116	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36035347	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4531674	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4899246	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902604	0.91[CEU][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59934413	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985819	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61985820	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985824	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985825	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69049800-69064000	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69052800-69064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:69053400-69064800	Weak transcription	Brain Substantia Nigra	brain
4	chr14:69057000-69065800	Weak transcription	Gastric	stomach
5	chr14:69057400-69064600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:69057600-69065200	Weak transcription	Lung	lung
7	chr14:69057600-69065800	Weak transcription	Left Ventricle	heart
8	chr14:69057800-69064800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:69058600-69065200	Weak transcription	Esophagus	oesophagus
10	chr14:69058800-69065000	Weak transcription	Ovary	ovary
11	chr14:69059400-69063800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:69059600-69064800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:69060000-69065000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:69060200-69064400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr14:69060200-69068200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:69060400-69063800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:69060800-69064800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:69060800-69065000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:69061200-69064800	Weak transcription	NHLF	lung
20	chr14:69061200-69065000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:69061200-69065000	Weak transcription	Osteobl	bone
22	chr14:69061200-69065200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:69061200-69065600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:69061200-69078000	Weak transcription	Fetal Heart	heart
25	chr14:69061400-69063800	Weak transcription	Fetal Intestine Large	intestine
26	chr14:69061400-69064600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:69061400-69064800	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:69061400-69064800	Weak transcription	Fetal Lung	lung
29	chr14:69061400-69064800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:69061400-69065000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:69061400-69065600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:69061600-69063600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:69061600-69064600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr14:69061600-69065000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:69061600-69065800	Weak transcription	Spleen	Spleen
36	chr14:69061800-69064400	Weak transcription	Primary B cells from cord blood	blood
37	chr14:69061800-69064400	Weak transcription	Fetal Intestine Small	intestine
38	chr14:69061800-69064800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:69061800-69065000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr14:69061800-69065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:69061800-69065200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:69061800-69065200	Weak transcription	Fetal Thymus	thymus
43	chr14:69061800-69065400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:69061800-69066600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:69061800-69070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:69062000-69064600	Weak transcription	HMEC	breast
47	chr14:69062000-69065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:69062200-69063600	Weak transcription	HepG2	liver
49	chr14:69062200-69064600	Weak transcription	A549	lung
50	chr14:69062200-69064800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links