Variant report

Variant	rs73270608
Chromosome Location	chr14:66187444-66187445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66186993..66189656-chr14:66205388..66207201,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10129472	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10136412	0.86[ASN][1000 genomes]
rs10150052	0.92[ASN][1000 genomes]
rs10151921	0.86[ASN][1000 genomes]
rs10162379	0.91[ASN][1000 genomes]
rs10162474	0.91[ASN][1000 genomes]
rs10483784	0.91[ASN][1000 genomes]
rs12588029	0.91[ASN][1000 genomes]
rs13379147	0.86[ASN][1000 genomes]
rs13379229	0.86[ASN][1000 genomes]
rs17102836	0.91[ASN][1000 genomes]
rs17102844	0.93[ASN][1000 genomes]
rs17102896	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17102920	1.00[ASN][1000 genomes]
rs1813030	0.86[ASN][1000 genomes]
rs1950559	0.93[ASN][1000 genomes]
rs2092915	0.86[ASN][1000 genomes]
rs28373922	0.85[ASN][1000 genomes]
rs28427101	0.86[ASN][1000 genomes]
rs28694288	0.93[ASN][1000 genomes]
rs28695252	0.92[ASN][1000 genomes]
rs28823043	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3783707	0.86[ASN][1000 genomes]
rs4516142	0.86[ASN][1000 genomes]
rs57638372	0.85[ASN][1000 genomes]
rs61987818	0.92[ASN][1000 genomes]
rs6573623	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7140251	0.86[ASN][1000 genomes]
rs7145319	0.93[ASN][1000 genomes]
rs7145834	0.85[ASN][1000 genomes]
rs7148401	0.86[ASN][1000 genomes]
rs7151690	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160505	0.86[ASN][1000 genomes]
rs73270603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73284201	0.80[AFR][1000 genomes]
rs8012058	0.93[ASN][1000 genomes]
rs8014146	0.91[ASN][1000 genomes]
rs8015947	0.86[ASN][1000 genomes]
rs8017901	1.00[ASN][1000 genomes]
rs9323464	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66137000-66189000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:66169800-66189000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:66170400-66191400	Weak transcription	Gastric	stomach
4	chr14:66170600-66190800	Weak transcription	Small Intestine	intestine
5	chr14:66171600-66191400	Weak transcription	Ovary	ovary
6	chr14:66175200-66188400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:66177600-66189400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:66177800-66189000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:66179000-66206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:66179800-66189600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:66182800-66195800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:66183800-66191200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:66184600-66192600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:66184600-66196000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:66184600-66198600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:66185400-66189000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:66185400-66209000	Weak transcription	Brain Angular Gyrus	brain
18	chr14:66185600-66189000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr14:66185800-66187800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:66185800-66188000	Weak transcription	Primary T cells from cord blood	blood
21	chr14:66186000-66187800	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr14:66186000-66190200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:66186200-66188400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:66186200-66188400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:66186200-66188600	Weak transcription	Fetal Intestine Large	intestine
26	chr14:66186200-66189200	ZNF genes & repeats	GM12878-XiMat	blood
27	chr14:66186200-66191400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:66186400-66191400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:66186400-66192800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:66186400-66208800	Weak transcription	Fetal Brain Female	brain
31	chr14:66186600-66187800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:66186600-66187800	ZNF genes & repeats	Fetal Stomach	stomach
33	chr14:66186600-66192200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:66186800-66188800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:66186800-66193600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:66187000-66188000	Weak transcription	Primary B cells from cord blood	blood
37	chr14:66187000-66190200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:66187000-66209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:66187200-66187600	Weak transcription	Thymus	Thymus
40	chr14:66187200-66187800	Enhancers	HepG2	liver
41	chr14:66187200-66190400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:66187200-66190800	Strong transcription	Dnd41	blood
43	chr14:66187200-66192600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:66187200-66193800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:66187400-66187600	Enhancers	Brain Substantia Nigra	brain
46	chr14:66187400-66189200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:66187400-66189200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:66187400-66191200	Weak transcription	Fetal Thymus	thymus
49	chr14:66187400-66208600	Weak transcription	Placenta	Placenta

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