Variant report

Variant	rs12587057
Chromosome Location	chr14:66066375-66066376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65878369..65881220-chr14:66065484..66068700,4	MCF-7	breast:
2	chr14:66060976..66063420-chr14:66066312..66068203,2	MCF-7	breast:
3	chr14:66066064..66069081-chr14:66080288..66082777,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10142283	0.96[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10143206	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10144979	0.96[CEU][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10145146	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148529	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10150412	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10152007	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10873190	0.86[EUR][1000 genomes]
rs10873191	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1113962	0.96[CEU][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11158595	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11158603	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158604	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158605	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11158606	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11158607	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1121885	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11623662	0.89[CEU][hapmap]
rs11629437	0.86[EUR][1000 genomes]
rs11844682	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11848209	0.87[AFR][1000 genomes]
rs12433597	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12885842	0.92[CEU][hapmap]
rs17753508	0.87[ASN][1000 genomes]
rs1889731	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1953415	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1953418	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1956009	0.81[AFR][1000 genomes]
rs1956010	0.89[CEU][hapmap]
rs1958559	0.82[CEU][hapmap]
rs1958560	0.82[CEU][hapmap]
rs1959144	0.96[CEU][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1959145	0.93[EUR][1000 genomes]
rs1999725	0.92[CEU][hapmap]
rs2064695	0.84[CEU][hapmap]
rs2092914	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2149839	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2152374	0.82[EUR][1000 genomes]
rs2183277	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2184601	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2185454	0.84[EUR][1000 genomes]
rs2210805	0.96[CEU][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2268955	0.82[CEU][hapmap]
rs2268956	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2268959	0.90[ASN][1000 genomes]
rs2300864	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2411354	0.87[AFR][1000 genomes]
rs2411356	0.89[CEU][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2411815	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2411820	0.96[CEU][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2898814	0.96[CEU][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2898818	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2898820	0.86[EUR][1000 genomes]
rs34640387	0.95[ASN][1000 genomes]
rs34772005	0.89[ASN][1000 genomes]
rs35949016	0.90[ASN][1000 genomes]
rs3825639	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902399	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902404	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987993	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573612	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6573614	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573615	0.88[CEU][hapmap]
rs6573616	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573617	0.88[EUR][1000 genomes]
rs6573618	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573619	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7140341	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140695	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7141536	0.96[CEU][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7142906	0.80[EUR][1000 genomes]
rs7143318	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7144345	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7144415	0.86[EUR][1000 genomes]
rs7144971	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145500	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7145759	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7146993	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7147002	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7147536	0.92[CEU][hapmap]
rs7147636	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs7150094	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7150448	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs7150648	0.88[EUR][1000 genomes]
rs7151561	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7157109	0.96[CEU][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7158153	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7160390	0.82[AFR][1000 genomes]
rs7160780	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs72714482	0.82[ASN][1000 genomes]
rs72714483	0.85[ASN][1000 genomes]
rs72714484	0.83[ASN][1000 genomes]
rs72716407	0.97[ASN][1000 genomes]
rs72716408	0.97[ASN][1000 genomes]
rs72716420	0.90[ASN][1000 genomes]
rs72716421	0.90[ASN][1000 genomes]
rs8003464	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8005243	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8007497	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8010726	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8011224	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs8013442	0.87[EUR][1000 genomes]
rs8016322	0.81[EUR][1000 genomes]
rs8017880	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8019762	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8022053	0.84[EUR][1000 genomes]
rs8022080	0.81[EUR][1000 genomes]
rs9323460	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9323461	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9972106	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66058200-66079000	Weak transcription	Primary T cells from cord blood	blood
2	chr14:66058600-66070600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:66059200-66082600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:66061800-66081800	Weak transcription	Dnd41	blood
5	chr14:66061800-66099000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:66062000-66082400	Weak transcription	Primary B cells from cord blood	blood
7	chr14:66065200-66066800	Enhancers	A549	lung
8	chr14:66065800-66066400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:66065800-66066600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr14:66066000-66066400	Enhancers	Duodenum Mucosa	Duodenum
11	chr14:66066000-66071000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:66066000-66071200	Weak transcription	Stomach Mucosa	stomach
13	chr14:66066200-66066400	Enhancers	Fetal Intestine Small	intestine
14	chr14:66066200-66066600	Enhancers	Colon Smooth Muscle	Colon
15	chr14:66066200-66066600	Enhancers	Osteobl	bone
16	chr14:66066200-66084000	Weak transcription	Fetal Intestine Large	intestine

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