Variant report

Variant	rs10483812
Chromosome Location	chr14:69017843-69017844
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69015136..69018224-chr14:69257957..69260697,4	MCF-7	breast:
2	chr14:68943428..68945388-chr14:69016683..69019444,2	MCF-7	breast:
3	chr14:68932051..68934015-chr14:69017184..69019251,2	MCF-7	breast:
4	chr14:69006886..69009005-chr14:69017187..69019247,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10483813	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11621276	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11624097	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11624164	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11624333	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11628293	0.95[CEU][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11844632	0.95[ASN][1000 genomes]
rs12889251	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17105780	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17105847	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17755925	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756147	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17828907	0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17828955	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158357	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34636650	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34882439	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs36028293	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71423314	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs71423316	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423317	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423318	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739874	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs999737	0.90[CEU][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv516239	chr14:69010690-69025870	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	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
5	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69009000-69023600	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69010400-69018600	Enhancers	Fetal Stomach	stomach
3	chr14:69011400-69018000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:69012600-69018400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:69012800-69019400	Enhancers	Left Ventricle	heart
6	chr14:69012800-69022000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr14:69013000-69019200	Enhancers	Right Atrium	heart
8	chr14:69013400-69018600	Enhancers	Ovary	ovary
9	chr14:69013400-69022600	Enhancers	HUVEC	blood vessel
10	chr14:69013600-69019000	Enhancers	Fetal Heart	heart
11	chr14:69013600-69019800	Enhancers	Fetal Kidney	kidney
12	chr14:69013600-69021200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:69013600-69022600	Enhancers	Adipose Nuclei	Adipose
14	chr14:69013800-69018200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:69013800-69018200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:69014000-69018200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:69014000-69018400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr14:69014000-69018600	Enhancers	Fetal Brain Male	brain
19	chr14:69014200-69018200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:69014200-69018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:69014200-69018600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:69014200-69021000	Weak transcription	Small Intestine	intestine
23	chr14:69014400-69018800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:69014400-69019400	Enhancers	Placenta	Placenta
25	chr14:69014400-69022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:69014400-69022800	Enhancers	Rectal Smooth Muscle	rectum
27	chr14:69015400-69020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:69015600-69018400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:69015600-69018800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:69015600-69020400	Enhancers	HMEC	breast
31	chr14:69015600-69021800	Enhancers	HSMMtube	muscle
32	chr14:69015800-69018000	Enhancers	NHLF	lung
33	chr14:69015800-69020400	Enhancers	Stomach Smooth Muscle	stomach
34	chr14:69015800-69022000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr14:69015800-69022600	Enhancers	NHDF-Ad	bronchial
36	chr14:69015800-69022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:69015800-69023000	Weak transcription	Aorta	Aorta
38	chr14:69016000-69018000	Weak transcription	Brain Substantia Nigra	brain
39	chr14:69016000-69019000	Enhancers	Hela-S3	cervix
40	chr14:69016000-69019200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:69016000-69019800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:69016000-69020000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:69016000-69020200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:69016000-69020400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:69016000-69021000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:69016000-69022800	Enhancers	NHEK	skin
47	chr14:69016000-69023000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:69016400-69018200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr14:69016400-69018800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr14:69016600-69018000	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links