Variant report

Variant	rs3809396
Chromosome Location	chr14:70178435-70178436
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70160859..70163841-chr14:70176614..70179491,2	K562	blood:
2	chr14:70129521..70131459-chr14:70177879..70180104,2	MCF-7	breast:
3	chr14:70163089..70166049-chr14:70176674..70179020,3	MCF-7	breast:
4	chr14:70114480..70116769-chr14:70178429..70180282,2	MCF-7	breast:
5	chr14:70175565..70179211-chr14:70180408..70183769,4	MCF-7	breast:
6	chr14:70076728..70078237-chr14:70177828..70179629,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10144825	0.91[EUR][1000 genomes]
rs10148264	1.00[CEU][hapmap]
rs10747300	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17107137	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184598	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs3784148	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784150	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784151	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809394	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899302	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4899306	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4902735	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4902736	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs60897990	0.91[EUR][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	chr14:70161600-70179200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:70163400-70179400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
4	chr14:70164000-70178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:70166600-70179000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:70168200-70179200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:70170400-70178800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:70170600-70178600	Strong transcription	Thymus	Thymus
9	chr14:70174200-70180200	Genic enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:70174600-70179000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:70174800-70178600	Strong transcription	Dnd41	blood
12	chr14:70175000-70178600	Strong transcription	Osteobl	bone
13	chr14:70175000-70179000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:70175000-70181600	Genic enhancers	Fetal Muscle Leg	muscle
15	chr14:70175200-70179200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:70175400-70178800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:70175400-70180800	Enhancers	Brain Substantia Nigra	brain
18	chr14:70176000-70178600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:70176000-70178800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:70176000-70179600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:70176000-70182000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr14:70176200-70179200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:70176400-70179000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:70176400-70179800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
25	chr14:70176600-70179000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:70176600-70179200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr14:70176800-70178600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
28	chr14:70176800-70178800	Weak transcription	HUVEC	blood vessel
29	chr14:70176800-70180600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:70177000-70178600	Genic enhancers	Colonic Mucosa	Colon
31	chr14:70177000-70178800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:70177000-70180600	Genic enhancers	Placenta	Placenta
33	chr14:70177200-70179600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:70177200-70180000	Genic enhancers	Rectal Mucosa Donor 31	rectum
35	chr14:70177200-70180400	Genic enhancers	Esophagus	oesophagus
36	chr14:70177200-70180800	Genic enhancers	Right Ventricle	heart
37	chr14:70177200-70181600	Genic enhancers	Fetal Thymus	thymus
38	chr14:70177200-70181600	Genic enhancers	Lung	lung
39	chr14:70177200-70184000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:70177400-70178600	Strong transcription	K562	blood
41	chr14:70177400-70179400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:70177400-70181400	Enhancers	Stomach Mucosa	stomach
43	chr14:70177400-70181600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:70177400-70181600	Genic enhancers	Fetal Intestine Small	intestine
45	chr14:70177400-70181600	Genic enhancers	Fetal Stomach	stomach
46	chr14:70177400-70182200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:70177400-70184200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr14:70177600-70178600	Genic enhancers	Brain Hippocampus Middle	brain
49	chr14:70177600-70178600	Genic enhancers	Fetal Heart	heart
50	chr14:70177600-70178600	Enhancers	Fetal Lung	lung

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