Variant report

Variant	rs1278935
Chromosome Location	chr14:32418155-32418156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32415369..32417109-chr14:32417144..32419896,2	MCF-7	breast:
2	chr14:32412347..32415225-chr14:32417011..32419996,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258474	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1278931	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1278933	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1278934	0.95[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278936	0.95[CHB][hapmap];0.96[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278937	0.95[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278938	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278939	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278940	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278941	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278942	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278943	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1756720	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1761072	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1761076	0.98[ASN][1000 genomes]
rs2236532	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][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	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3416639	chr14:32418082-32418502	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32407400-32419800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:32412200-32418600	Weak transcription	NHDF-Ad	bronchial
3	chr14:32412400-32419600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:32412800-32419800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:32413000-32419000	Weak transcription	Small Intestine	intestine
6	chr14:32413000-32419600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:32413400-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:32413600-32420600	Enhancers	HMEC	breast
9	chr14:32413800-32418800	Weak transcription	Fetal Lung	lung
10	chr14:32413800-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:32414000-32419000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:32414200-32419200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:32414400-32419400	Weak transcription	Brain Germinal Matrix	brain
14	chr14:32414600-32418800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:32414600-32419400	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:32414600-32419600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:32414600-32419600	Weak transcription	Adipose Nuclei	Adipose
18	chr14:32414600-32419600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:32414600-32419600	Weak transcription	Left Ventricle	heart
20	chr14:32414600-32419600	Weak transcription	Right Atrium	heart
21	chr14:32414600-32419800	Weak transcription	Gastric	stomach
22	chr14:32414600-32419800	Weak transcription	Lung	lung
23	chr14:32414600-32419800	Weak transcription	Psoas Muscle	Psoas
24	chr14:32414600-32420000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:32414800-32420000	Weak transcription	Pancreas	Pancrea
26	chr14:32415200-32418600	Weak transcription	Hela-S3	cervix
27	chr14:32415200-32419600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:32415400-32419000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:32415600-32418800	Weak transcription	Stomach Mucosa	stomach
30	chr14:32415600-32419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:32415800-32418800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:32415800-32418800	Enhancers	A549	lung
33	chr14:32415800-32419800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:32416000-32419200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:32416200-32418200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr14:32416600-32418800	Weak transcription	Fetal Intestine Large	intestine
37	chr14:32416600-32419000	Weak transcription	Fetal Intestine Small	intestine
38	chr14:32416800-32420600	Enhancers	NHEK	skin
39	chr14:32417200-32418800	Weak transcription	K562	blood
40	chr14:32417400-32418800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:32417400-32418800	Weak transcription	Fetal Stomach	stomach
42	chr14:32417600-32418600	Enhancers	Fetal Heart	heart
43	chr14:32417600-32418800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:32417600-32418800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:32417600-32419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:32417600-32419200	Weak transcription	Fetal Brain Female	brain
47	chr14:32417600-32419800	Weak transcription	Right Ventricle	heart
48	chr14:32417800-32418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:32417800-32419000	Weak transcription	Fetal Brain Male	brain
50	chr14:32418000-32418400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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