Variant report

Variant	rs13154319
Chromosome Location	chr5:43312204-43312205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43120068..43123427-chr5:43312084..43315058,4	MCF-7	breast:
2	chr5:43311997..43315552-chr5:43481611..43486076,8	MCF-7	breast:
3	chr5:43119704..43122543-chr5:43311544..43313949,2	K562	blood:
4	chr5:43066779..43068606-chr5:43311507..43313844,2	K562	blood:
5	chr5:43063526..43065566-chr5:43309801..43312306,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10044743	1.00[CHB][hapmap]
rs10461740	1.00[CEU][hapmap]
rs10462049	1.00[EUR][1000 genomes]
rs10941618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656650	1.00[CEU][hapmap]
rs12657635	1.00[CEU][hapmap]
rs12657724	1.00[CEU][hapmap]
rs12659627	1.00[CEU][hapmap]
rs13155023	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs13155622	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13155888	1.00[CEU][hapmap]
rs13160133	1.00[CHB][hapmap]
rs13160431	1.00[CEU][hapmap]
rs13165339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13165869	1.00[CEU][hapmap]
rs13167052	1.00[AMR][1000 genomes]
rs13167838	1.00[CEU][hapmap]
rs13168053	1.00[CEU][hapmap]
rs13168456	1.00[AMR][1000 genomes]
rs13169195	1.00[CHB][hapmap]
rs13169908	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13173517	1.00[CEU][hapmap]
rs13174298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13180902	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13186439	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs16873319	1.00[CEU][hapmap]
rs17303482	1.00[CHB][hapmap]
rs34150414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34238140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34379498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34497448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34762186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34880892	1.00[AMR][1000 genomes]
rs34965256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35033162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35142013	1.00[AMR][1000 genomes]
rs35350677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35748848	1.00[AMR][1000 genomes]
rs35756093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36036217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36062172	1.00[AMR][1000 genomes]
rs36097388	1.00[AMR][1000 genomes]
rs3797152	1.00[AMR][1000 genomes]
rs3806871	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4264950	1.00[CEU][hapmap]
rs4438885	1.00[CEU][hapmap]
rs4498257	1.00[CEU][hapmap]
rs6889653	1.00[CEU][hapmap]
rs6890108	1.00[CEU][hapmap]
rs71590642	1.00[AMR][1000 genomes]
rs71627597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71627598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71627599	1.00[AMR][1000 genomes]
rs71627600	1.00[AMR][1000 genomes]
rs71629106	1.00[AMR][1000 genomes]
rs7720858	1.00[CEU][hapmap]
rs7732460	1.00[CHB][hapmap]
rs878234	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43288200-43312400	Weak transcription	Spleen	Spleen
2	chr5:43294200-43312400	Weak transcription	Thymus	Thymus
3	chr5:43297400-43312400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:43298800-43312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:43299000-43312400	Weak transcription	Right Ventricle	heart
6	chr5:43299400-43312600	Weak transcription	Placenta	Placenta
7	chr5:43300400-43312400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:43300400-43312400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:43303400-43312800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:43306000-43312800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:43306400-43312600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:43306400-43312600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
13	chr5:43307600-43312800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:43307800-43313400	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr5:43308200-43312600	Transcr. at gene 5' and 3'	HMEC	breast
16	chr5:43309200-43312400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
17	chr5:43309200-43312600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
18	chr5:43309600-43312400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
19	chr5:43309600-43312400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:43309800-43312400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
21	chr5:43309800-43312600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
22	chr5:43310000-43312400	Weak transcription	Pancreas	Pancrea
23	chr5:43310000-43312400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr5:43310000-43314200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr5:43310200-43312400	Active TSS	Brain Germinal Matrix	brain
26	chr5:43310400-43312600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:43310400-43312600	Weak transcription	Aorta	Aorta
28	chr5:43310600-43313600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:43310600-43314000	Active TSS	HSMMtube	muscle
30	chr5:43311000-43312600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:43311000-43313600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:43311000-43313600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:43311000-43314000	Active TSS	Fetal Brain Male	brain
34	chr5:43311000-43314000	Active TSS	GM12878-XiMat	blood
35	chr5:43311200-43313000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:43311200-43313600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:43311200-43313600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr5:43311200-43313800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:43311400-43312400	Weak transcription	Gastric	stomach
40	chr5:43311400-43313600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:43311400-43313600	Active TSS	Lung	lung
42	chr5:43311400-43314200	Active TSS	NHLF	lung
43	chr5:43311600-43312400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:43311600-43312400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr5:43311600-43312400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
46	chr5:43311600-43312600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr5:43311600-43312600	Enhancers	Colon Smooth Muscle	Colon
48	chr5:43311600-43312800	Flanking Active TSS	Liver	Liver
49	chr5:43311600-43313600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:43311800-43312400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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