Variant report

Variant	rs8016149
Chromosome Location	chr14:69032989-69032990
allele	G/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69030740..69033327-chr14:69250048..69252689,2	K562	blood:
2	chr14:68916102..68918734-chr14:69031708..69033392,2	MCF-7	breast:
3	chr14:69032430..69035080-chr14:69056071..69058771,2	MCF-7	breast:
4	chr14:69032584..69034400-chr14:69071783..69073472,2	MCF-7	breast:
5	chr14:69028863..69039900-chr14:69256962..69265663,39	MCF-7	breast:
6	chr14:68934455..68938409-chr14:69031168..69034448,4	MCF-7	breast:
7	chr14:69013020..69016426-chr14:69030419..69035616,4	MCF-7	breast:
8	chr14:69029510..69035367-chr14:69250877..69256211,7	MCF-7	breast:
9	chr14:68911957..68914084-chr14:69032259..69034812,2	MCF-7	breast:
10	chr14:69027748..69038857-chr14:69257974..69264472,24	MCF-7	breast:
11	chr14:68925575..68926342-chr14:69032467..69033626,4	MCF-7	breast:
12	chr14:68715572..68717664-chr14:69031801..69033626,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10130177	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs10134240	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs10137367	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs10147979	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs10148391	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs10483811	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs11849344	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs1468280	0.80[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs17105810	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs17105812	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs17105828	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs17105829	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs2525504	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28377700	0.89[EUR][1000 genomes]
rs28454359	0.82[EUR][1000 genomes]
rs28492919	0.91[EUR][1000 genomes]
rs28558877	0.88[EUR][1000 genomes]
rs28671277	0.81[EUR][1000 genomes]
rs6573841	0.94[CEU][hapmap];0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72727502	0.83[EUR][1000 genomes]
rs72729521	0.92[EUR][1000 genomes]
rs8017678	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs9323515	0.84[CEU][hapmap];0.85[EUR][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69021000-69036200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:69026400-69033600	Enhancers	Ovary	ovary
3	chr14:69027200-69033400	Enhancers	Liver	Liver
4	chr14:69027600-69033000	Enhancers	Primary T cells from cord blood	blood
5	chr14:69027600-69033400	Enhancers	Placenta	Placenta
6	chr14:69027600-69033600	Enhancers	Fetal Muscle Leg	muscle
7	chr14:69027800-69033400	Enhancers	Lung	lung
8	chr14:69027800-69033400	Enhancers	Pancreas	Pancrea
9	chr14:69027800-69033600	Enhancers	Fetal Thymus	thymus
10	chr14:69028000-69033600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:69028200-69033400	Enhancers	Fetal Lung	lung
12	chr14:69028200-69033400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:69028200-69033600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:69028200-69033600	Enhancers	Adipose Nuclei	Adipose
15	chr14:69028400-69033400	Enhancers	Fetal Kidney	kidney
16	chr14:69028400-69033600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr14:69028600-69033000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:69028600-69033400	Enhancers	Stomach Mucosa	stomach
19	chr14:69029000-69033400	Enhancers	Esophagus	oesophagus
20	chr14:69029000-69033400	Enhancers	Spleen	Spleen
21	chr14:69029200-69033200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:69029200-69035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:69029400-69033400	Enhancers	Right Atrium	heart
24	chr14:69029400-69035400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:69029600-69033200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:69029800-69033200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:69029800-69036400	Weak transcription	Gastric	stomach
28	chr14:69030000-69033000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:69030000-69033400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:69030200-69035000	Enhancers	HepG2	liver
31	chr14:69030400-69033000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:69030800-69033200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:69030800-69035600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:69030800-69036400	Weak transcription	Fetal Heart	heart
35	chr14:69030800-69041600	Weak transcription	NHLF	lung
36	chr14:69031200-69033000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:69031200-69036200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:69031200-69041800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:69031400-69033200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:69031400-69033400	Enhancers	NHEK	skin
41	chr14:69031400-69035400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:69031600-69033000	Enhancers	Fetal Intestine Large	intestine
43	chr14:69031600-69033200	Weak transcription	Psoas Muscle	Psoas
44	chr14:69031600-69033200	Enhancers	A549	lung
45	chr14:69031600-69035200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:69031600-69035800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:69031600-69035800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:69031800-69033400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:69031800-69033400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:69031800-69033400	Enhancers	HSMM	muscle

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