Variant report

Variant	rs1275817
Chromosome Location	chr14:70180778-70180779
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70078043..70079983-chr14:70178508..70181365,3	MCF-7	breast:
2	chr14:70178635..70181592-chr14:70183298..70186714,3	K562	blood:
3	chr14:70179847..70181709-chr14:70191063..70193830,2	K562	blood:
4	chr14:70179378..70181734-chr14:70233557..70235486,2	MCF-7	breast:
5	chr14:70175565..70179211-chr14:70180408..70183769,4	MCF-7	breast:
6	chr14:70151659..70153320-chr14:70179595..70181137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1275742	0.92[CHB][hapmap];0.94[ASN][1000 genomes]
rs1275745	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275746	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275823	0.85[ASN][1000 genomes]
rs1290041	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1295826	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1295827	0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17107161	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1743379	0.91[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1999722	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2210803	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2766462	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2766466	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34686932	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902745	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55780993	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60716885	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61980729	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61980730	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573900	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7143960	0.92[CHB][hapmap];0.91[ASN][1000 genomes]
rs7157093	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs945308	0.91[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs945309	0.88[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945310	0.90[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945312	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
2	chr14:70175000-70181600	Genic enhancers	Fetal Muscle Leg	muscle
3	chr14:70175400-70180800	Enhancers	Brain Substantia Nigra	brain
4	chr14:70176000-70182000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr14:70177200-70180800	Genic enhancers	Right Ventricle	heart
6	chr14:70177200-70181600	Genic enhancers	Fetal Thymus	thymus
7	chr14:70177200-70181600	Genic enhancers	Lung	lung
8	chr14:70177200-70184000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr14:70177400-70181400	Enhancers	Stomach Mucosa	stomach
10	chr14:70177400-70181600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:70177400-70181600	Genic enhancers	Fetal Intestine Small	intestine
12	chr14:70177400-70181600	Genic enhancers	Fetal Stomach	stomach
13	chr14:70177400-70182200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:70177400-70184200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:70177600-70181000	Genic enhancers	Fetal Intestine Large	intestine
16	chr14:70177600-70181400	Genic enhancers	Rectal Mucosa Donor 29	rectum
17	chr14:70177600-70181600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:70177600-70181600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:70177600-70181600	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr14:70177600-70181800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:70177600-70182000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:70177800-70181600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:70178000-70181000	Enhancers	Fetal Kidney	kidney
24	chr14:70178000-70181600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr14:70178200-70182600	Weak transcription	Ovary	ovary
26	chr14:70178200-70187000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:70178400-70183200	Weak transcription	Aorta	Aorta
28	chr14:70178600-70181400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:70178600-70181600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:70178600-70182800	Weak transcription	Dnd41	blood
31	chr14:70178800-70181600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:70178800-70181600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:70178800-70181800	Enhancers	HUVEC	blood vessel
34	chr14:70179000-70181600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:70179200-70180800	Enhancers	A549	lung
36	chr14:70179200-70181000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr14:70179200-70181200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr14:70179200-70181600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr14:70179200-70181600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:70179200-70181600	Enhancers	Fetal Lung	lung
41	chr14:70179400-70180800	Genic enhancers	Duodenum Mucosa	Duodenum
42	chr14:70179400-70181000	Genic enhancers	Brain Inferior Temporal Lobe	brain
43	chr14:70179400-70182600	Weak transcription	NHLF	lung
44	chr14:70179400-70182800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:70179600-70181200	Weak transcription	Osteobl	bone
46	chr14:70179600-70181400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:70179600-70181400	Enhancers	Adipose Nuclei	Adipose
48	chr14:70179600-70181600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:70179600-70181600	Enhancers	Gastric	stomach
50	chr14:70179600-70182000	Strong transcription	Primary B cells from cord blood	blood

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