Variant report

Variant	rs1375072
Chromosome Location	chr16:10173075-10173076
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	chr16:10172874..10175246-chr16:10176693..10178721,2	K562	blood:

Extended variants
information (count: 182 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10518149	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10518150	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10518151	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10518152	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1070479	0.85[CEU][hapmap]
rs1111537	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12102500	1.00[CEU][hapmap]
rs12102636	1.00[CEU][hapmap]
rs12102832	0.90[CEU][hapmap];0.97[EUR][1000 genomes]
rs13331030	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13331085	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13331088	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13331168	0.97[EUR][1000 genomes]
rs13331428	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13331457	0.96[EUR][1000 genomes]
rs13331461	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13331465	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13331514	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.97[EUR][1000 genomes]
rs13332018	1.00[EUR][1000 genomes]
rs13332501	0.86[EUR][1000 genomes]
rs13332665	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13332699	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13336632	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.97[EUR][1000 genomes]
rs13336710	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1375068	0.88[CEU][hapmap]
rs1375075	0.88[CEU][hapmap]
rs1375076	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1448253	0.83[CEU][hapmap]
rs1448261	0.96[EUR][1000 genomes]
rs1448262	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes]
rs1448268	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1448270	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1448271	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1448272	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1463128	1.00[CEU][hapmap]
rs16956843	0.97[EUR][1000 genomes]
rs17569940	0.91[CEU][hapmap]
rs17570290	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17670766	0.91[CEU][hapmap]
rs17671033	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs1827197	0.91[CEU][hapmap]
rs2111223	0.81[EUR][1000 genomes]
rs2197778	0.82[TSI][hapmap]
rs2352741	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28375797	1.00[EUR][1000 genomes]
rs28465345	0.99[EUR][1000 genomes]
rs28491487	0.89[EUR][1000 genomes]
rs28528871	0.89[EUR][1000 genomes]
rs28540790	0.97[EUR][1000 genomes]
rs28574279	1.00[EUR][1000 genomes]
rs28581562	0.97[EUR][1000 genomes]
rs28634372	0.94[EUR][1000 genomes]
rs2883162	0.81[EUR][1000 genomes]
rs4107019	0.91[CEU][hapmap];0.90[TSI][hapmap]
rs4780784	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4782266	0.83[CEU][hapmap]
rs56666352	0.97[EUR][1000 genomes]
rs57587803	0.97[EUR][1000 genomes]
rs57737700	1.00[EUR][1000 genomes]
rs58797003	0.97[EUR][1000 genomes]
rs58861142	0.97[EUR][1000 genomes]
rs59568026	0.97[EUR][1000 genomes]
rs60276136	0.97[EUR][1000 genomes]
rs60864732	0.97[EUR][1000 genomes]
rs60950183	0.97[EUR][1000 genomes]
rs61224814	0.97[EUR][1000 genomes]
rs61686802	0.97[EUR][1000 genomes]
rs6497716	0.90[CEU][hapmap]
rs67171153	0.97[EUR][1000 genomes]
rs67679267	0.89[EUR][1000 genomes]
rs67780046	0.97[EUR][1000 genomes]
rs67828712	0.97[EUR][1000 genomes]
rs7188081	0.96[EUR][1000 genomes]
rs7188291	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes]
rs7189360	1.00[CEU][hapmap]
rs7190321	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7190619	0.81[CEU][hapmap]
rs7192622	1.00[CEU][hapmap]
rs7193123	1.00[CEU][hapmap]
rs7196139	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs7197200	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap]
rs7198528	0.88[CEU][hapmap]
rs7200039	1.00[CEU][hapmap]
rs7200649	1.00[CEU][hapmap]
rs7200719	0.91[CEU][hapmap];0.90[TSI][hapmap]
rs7201627	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs7203194	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap]
rs7206094	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7206296	0.88[CEU][hapmap]
rs72772374	0.91[EUR][1000 genomes]
rs72772397	0.94[EUR][1000 genomes]
rs72774106	1.00[EUR][1000 genomes]
rs72774110	0.99[EUR][1000 genomes]
rs72774111	0.99[EUR][1000 genomes]
rs72774115	1.00[EUR][1000 genomes]
rs72774116	1.00[EUR][1000 genomes]
rs72774119	1.00[EUR][1000 genomes]
rs72774121	1.00[EUR][1000 genomes]
rs72774122	1.00[EUR][1000 genomes]
rs72774125	1.00[EUR][1000 genomes]
rs72774126	1.00[EUR][1000 genomes]
rs72774127	1.00[EUR][1000 genomes]
rs72774129	1.00[EUR][1000 genomes]
rs72774131	1.00[EUR][1000 genomes]
rs72774134	1.00[EUR][1000 genomes]
rs72774136	1.00[EUR][1000 genomes]
rs72774137	1.00[EUR][1000 genomes]
rs72774138	1.00[EUR][1000 genomes]
rs72774139	1.00[EUR][1000 genomes]
rs72774141	1.00[EUR][1000 genomes]
rs72774143	1.00[EUR][1000 genomes]
rs72774148	1.00[EUR][1000 genomes]
rs72774150	1.00[EUR][1000 genomes]
rs72774156	1.00[EUR][1000 genomes]
rs72774158	1.00[EUR][1000 genomes]
rs72774159	1.00[EUR][1000 genomes]
rs72774171	0.99[EUR][1000 genomes]
rs72776024	0.81[EUR][1000 genomes]
rs72776030	0.81[EUR][1000 genomes]
rs72776031	0.82[EUR][1000 genomes]
rs72776036	0.82[EUR][1000 genomes]
rs72776048	0.81[EUR][1000 genomes]
rs72776050	0.81[EUR][1000 genomes]
rs72776054	0.81[EUR][1000 genomes]
rs73510663	1.00[EUR][1000 genomes]
rs8043728	0.91[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs8056514	1.00[CEU][hapmap]
rs8056683	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs8057034	1.00[EUR][1000 genomes]
rs8059513	0.99[EUR][1000 genomes]
rs8059547	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs8060239	1.00[GIH][hapmap]
rs8061018	0.97[EUR][1000 genomes]
rs8061963	0.90[EUR][1000 genomes]
rs8062241	0.81[CEU][hapmap];0.97[EUR][1000 genomes]
rs8062320	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs8062624	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9302409	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.97[EUR][1000 genomes]
rs9922338	1.00[EUR][1000 genomes]
rs9922383	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs9922871	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9925707	1.00[CEU][hapmap]
rs9927648	0.91[CEU][hapmap];1.00[EUR][1000 genomes]
rs9927914	1.00[CEU][hapmap]
rs9927926	1.00[CEU][hapmap]
rs9930321	0.99[EUR][1000 genomes]
rs9930364	0.83[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs9930396	0.99[EUR][1000 genomes]
rs9931653	1.00[EUR][1000 genomes]
rs9933111	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.97[EUR][1000 genomes]
rs9933478	0.97[EUR][1000 genomes]
rs9933945	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9935774	1.00[CEU][hapmap]
rs9936854	1.00[EUR][1000 genomes]
rs9937970	1.00[CEU][hapmap]
rs9938467	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9938777	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9940458	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949196	chr16:9937980-10182349	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1037001	chr16:10008023-10476482	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422500	chr16:10008309-10415517	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1052566	chr16:10033178-10260068	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758410	chr16:10060976-10257550	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2758629	chr16:10060976-10257550	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv427973	chr16:10060976-10257550	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1037707	chr16:10078790-10529893	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1042727	chr16:10092002-10521096	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv932624	chr16:10092048-10520294	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1045651	chr16:10106137-10520295	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv542742	chr16:10106137-10520295	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1053991	chr16:10106137-10532500	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv542743	chr16:10106137-10532500	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv533421	chr16:10106138-10520294	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1036532	chr16:10107173-10520100	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv542744	chr16:10107173-10520100	Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1050509	chr16:10107173-10564913	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv542745	chr16:10107173-10564913	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv571443	chr16:10112199-10184183	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv905334	chr16:10128523-10187716	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv1043654	chr16:10133882-10227108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv1042657	chr16:10139047-10338293	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv833138	chr16:10165143-10312048	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:10163600-10173600	Weak transcription	Right Atrium	heart
2	chr16:10169200-10173200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:10172000-10173200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr16:10172000-10173600	Enhancers	NH-A	brain
5	chr16:10172000-10173800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr16:10172000-10174000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:10172000-10174200	Enhancers	Stomach Smooth Muscle	stomach
8	chr16:10172200-10173200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:10172200-10173400	Weak transcription	HMEC	breast
10	chr16:10172200-10175000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr16:10172200-10175200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:10172200-10175800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:10172200-10176200	Enhancers	Stomach Mucosa	stomach
14	chr16:10172400-10173600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:10172400-10175600	Enhancers	Brain Anterior Caudate	brain
16	chr16:10172400-10175800	Enhancers	Fetal Brain Male	brain
17	chr16:10172600-10173200	Enhancers	Fetal Brain Female	brain
18	chr16:10172600-10173800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:10172600-10173800	Weak transcription	Brain Substantia Nigra	brain
20	chr16:10172600-10173800	Enhancers	NHDF-Ad	bronchial
21	chr16:10172600-10174200	Weak transcription	Left Ventricle	heart
22	chr16:10172600-10175200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:10172600-10175200	Enhancers	Pancreas	Pancrea
24	chr16:10172800-10173200	Enhancers	Brain Angular Gyrus	brain
25	chr16:10172800-10173400	Weak transcription	Gastric	stomach
26	chr16:10172800-10174000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr16:10172800-10174400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:10172800-10175200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr16:10173000-10173600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr16:10173000-10173800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr16:10173000-10174000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:10173000-10174200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:10173000-10174200	Weak transcription	Ovary	ovary
34	chr16:10173000-10175200	Enhancers	Brain Hippocampus Middle	brain
35	chr16:10173000-10175800	Enhancers	Hela-S3	cervix

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