Variant report

Variant	rs12518710
Chromosome Location	chr5:50045031-50045032
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	chr5:50006825..50008981-chr5:50044133..50046032,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10038842	1.00[ASN][1000 genomes]
rs10039639	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10041633	1.00[ASN][1000 genomes]
rs10043477	1.00[ASN][1000 genomes]
rs10045122	1.00[ASN][1000 genomes]
rs10052001	1.00[ASN][1000 genomes]
rs10070517	1.00[ASN][1000 genomes]
rs10071272	1.00[ASN][1000 genomes]
rs10434558	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10471888	1.00[ASN][1000 genomes]
rs10471893	1.00[ASN][1000 genomes]
rs10471940	1.00[ASN][1000 genomes]
rs10471956	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11741205	1.00[ASN][1000 genomes]
rs12518013	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13162921	1.00[ASN][1000 genomes]
rs13164951	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13355372	1.00[ASN][1000 genomes]
rs13355434	1.00[ASN][1000 genomes]
rs1375127	1.00[ASN][1000 genomes]
rs157970	1.00[JPT][hapmap]
rs171555	1.00[JPT][hapmap]
rs1988613	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2034392	1.00[ASN][1000 genomes]
rs2034394	1.00[ASN][1000 genomes]
rs26066	1.00[ASN][1000 genomes]
rs26068	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2697662	1.00[ASN][1000 genomes]
rs27245	1.00[JPT][hapmap]
rs27251	1.00[JPT][hapmap]
rs282549	1.00[ASN][1000 genomes]
rs282552	1.00[JPT][hapmap]
rs282559	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs32377	1.00[ASN][1000 genomes]
rs32378	1.00[ASN][1000 genomes]
rs4029420	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4101529	1.00[ASN][1000 genomes]
rs4865846	1.00[ASN][1000 genomes]
rs4865974	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs4866001	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs578198	1.00[JPT][hapmap]
rs6450359	1.00[ASN][1000 genomes]
rs6869356	1.00[ASN][1000 genomes]
rs6879306	1.00[ASN][1000 genomes]
rs6886872	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6888147	1.00[ASN][1000 genomes]
rs73093361	1.00[ASN][1000 genomes]
rs73112331	1.00[ASN][1000 genomes]
rs73112340	1.00[ASN][1000 genomes]
rs7449019	1.00[ASN][1000 genomes]
rs7709831	1.00[ASN][1000 genomes]
rs7710150	1.00[ASN][1000 genomes]
rs7711839	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7723361	1.00[JPT][hapmap]
rs7728222	1.00[ASN][1000 genomes]
rs7730847	1.00[ASN][1000 genomes]
rs7734389	1.00[ASN][1000 genomes]
rs895801	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs921210	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1030068	chr5:49986171-50047352	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv537760	chr5:49986171-50047352	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1016237	chr5:49986171-50118816	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv537761	chr5:49986171-50118816	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv462160	chr5:49988020-50058043	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv598109	chr5:49988020-50058043	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv598110	chr5:49988020-50089919	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv598112	chr5:49989701-50062611	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv462163	chr5:49989701-50088317	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv598113	chr5:49989701-50088317	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv598114	chr5:49991561-50088317	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv462164	chr5:50017724-50063035	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv598115	chr5:50017724-50063035	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50039200-50067200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:50040000-50069200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:50040400-50059600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:50041400-50045800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:50041400-50058400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:50041400-50068800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:50041600-50047000	Enhancers	Dnd41	blood
8	chr5:50041600-50049600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:50041800-50048000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:50041800-50048200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr5:50041800-50055000	Weak transcription	GM12878-XiMat	blood
12	chr5:50041800-50056400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:50041800-50057600	Weak transcription	Primary B cells from cord blood	blood
14	chr5:50041800-50069200	Weak transcription	Adipose Nuclei	Adipose
15	chr5:50041800-50070200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:50041800-50090000	Weak transcription	Small Intestine	intestine
17	chr5:50042000-50057800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:50043200-50047200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:50044000-50045200	Enhancers	Stomach Mucosa	stomach
20	chr5:50044000-50045600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:50044000-50046000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr5:50044000-50047400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr5:50044000-50047800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr5:50044200-50045800	Enhancers	Primary T cells from cord blood	blood
25	chr5:50044200-50047400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:50044400-50047200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:50044400-50047400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:50044400-50052600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:50044600-50045400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr5:50044800-50045200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:50044800-50046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:50044800-50055800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:50045000-50045200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr5:50045000-50045400	Enhancers	Primary T cells fromperipheralblood	blood

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