Variant report

Variant	rs12436349
Chromosome Location	chr14:66021458-66021459
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	chr14:66002294..66004964-chr14:66020886..66023654,2	MCF-7	breast:
2	chr14:66020277..66021956-chr14:66022391..66024795,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10130526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10131727	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10143920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10149311	0.98[ASN][1000 genomes]
rs10483777	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847101	1.00[JPT][hapmap]
rs11849792	1.00[JPT][hapmap]
rs12323434	0.98[ASN][1000 genomes]
rs12431562	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431772	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12432032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433051	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12433273	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433688	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12434375	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434513	1.00[ASN][1000 genomes]
rs12434626	0.95[ASN][1000 genomes]
rs12435769	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12435809	0.91[ASN][1000 genomes]
rs12435971	1.00[JPT][hapmap]
rs12436381	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12436402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12436434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436482	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436677	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12436771	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12437088	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437132	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17102688	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs17102708	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17102839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17102854	0.81[ASN][1000 genomes]
rs17102894	1.00[JPT][hapmap]
rs17102910	1.00[JPT][hapmap]
rs17246385	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17246441	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17246532	1.00[AMR][1000 genomes]
rs17826892	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17826946	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17826952	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1952605	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2073295	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2295360	1.00[AMR][1000 genomes]
rs2300863	0.87[ASN][1000 genomes]
rs2300866	0.87[ASN][1000 genomes]
rs2300870	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28496380	0.81[ASN][1000 genomes]
rs56821971	1.00[ASN][1000 genomes]
rs58087042	0.95[ASN][1000 genomes]
rs58160832	0.95[ASN][1000 genomes]
rs61417186	0.95[ASN][1000 genomes]
rs7141590	0.82[JPT][hapmap]
rs74056775	0.95[ASN][1000 genomes]
rs74056782	1.00[ASN][1000 genomes]
rs74056787	1.00[ASN][1000 genomes]
rs74056794	1.00[ASN][1000 genomes]
rs74056800	1.00[ASN][1000 genomes]
rs74058505	1.00[ASN][1000 genomes]
rs74058525	0.95[ASN][1000 genomes]
rs74058541	0.95[ASN][1000 genomes]
rs74058560	0.81[ASN][1000 genomes]
rs74058562	0.81[ASN][1000 genomes]
rs956582	1.00[JPT][hapmap]
rs997794	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65985000-66025200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:65995200-66028000	Weak transcription	Dnd41	blood
3	chr14:65995400-66061000	Weak transcription	Gastric	stomach
4	chr14:66002400-66028000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:66003000-66028000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:66003400-66028200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:66003800-66041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:66005400-66028400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:66008600-66025800	Weak transcription	Primary T cells from cord blood	blood
10	chr14:66008600-66028000	Weak transcription	Primary B cells from cord blood	blood
11	chr14:66013200-66028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:66014800-66022000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:66015200-66033600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:66016000-66032800	Weak transcription	Small Intestine	intestine
15	chr14:66016000-66041400	Weak transcription	Ovary	ovary
16	chr14:66016600-66028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:66016600-66033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:66018200-66031600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:66018400-66022800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:66018600-66027800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:66019200-66021800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:66019200-66023000	Weak transcription	Left Ventricle	heart
23	chr14:66019400-66022200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:66019400-66028200	Weak transcription	GM12878-XiMat	blood
25	chr14:66019800-66023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:66021200-66023200	Enhancers	Brain Hippocampus Middle	brain
27	chr14:66021200-66023400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr14:66021400-66022200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:66021400-66022400	Enhancers	Primary B cells from peripheral blood	blood
30	chr14:66021400-66022400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr14:66021400-66023600	Enhancers	Brain Cingulate Gyrus	brain
32	chr14:66021400-66046400	Weak transcription	Thymus	Thymus

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