Variant report

Variant	rs12664278
Chromosome Location	chr6:101174070-101174071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10485138	1.00[AFR][1000 genomes]
rs10485140	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10485294	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10485295	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10485297	0.83[AMR][1000 genomes]
rs12660993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12661291	1.00[AFR][1000 genomes]
rs12663536	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12664207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12664223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12664256	1.00[AFR][1000 genomes]
rs12664368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12664920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12664950	1.00[AFR][1000 genomes]
rs12665824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1336246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17054315	0.83[AMR][1000 genomes]
rs17060852	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17060914	1.00[AFR][1000 genomes]
rs17060954	1.00[AFR][1000 genomes]
rs17060978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17060985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17061014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17061023	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17061060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17061113	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17061152	0.83[AMR][1000 genomes]
rs17061158	0.83[AMR][1000 genomes]
rs17061168	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17061190	0.83[AMR][1000 genomes]
rs17061191	0.83[AMR][1000 genomes]
rs17061195	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17061206	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17061234	0.83[AMR][1000 genomes]
rs17061235	0.83[AMR][1000 genomes]
rs17061236	0.83[AMR][1000 genomes]
rs17061242	0.83[AMR][1000 genomes]
rs34783327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72942958	1.00[ASN][1000 genomes]
rs768985	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv886445	chr6:101004751-101240763	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886452	chr6:101018032-101192051	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv886453	chr6:101018032-101203051	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886455	chr6:101049108-101203051	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv886456	chr6:101049108-101277926	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv604270	chr6:101058886-101196080	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv463991	chr6:101072307-101196080	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv604272	chr6:101072307-101196080	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv463992	chr6:101072307-101197953	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv604273	chr6:101072307-101197953	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv604274	chr6:101078718-101196080	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv604275	chr6:101158950-101277926	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101119400-101181200	Weak transcription	Left Ventricle	heart
2	chr6:101142400-101189600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:101145400-101175600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:101147800-101190000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:101148200-101175600	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:101148200-101189600	Weak transcription	Placenta	Placenta
7	chr6:101148600-101177800	Weak transcription	Fetal Lung	lung
8	chr6:101148600-101184400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:101149400-101174400	Weak transcription	Esophagus	oesophagus
10	chr6:101149600-101190000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:101149800-101175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:101150000-101174800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:101150200-101190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:101150200-101190000	Weak transcription	Ovary	ovary
15	chr6:101150200-101190600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:101150400-101175600	Weak transcription	NHEK	skin
17	chr6:101151000-101174800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:101151400-101185600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:101156000-101190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:101157400-101190000	Weak transcription	HepG2	liver
21	chr6:101161400-101174800	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:101161600-101185800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:101162000-101189600	Weak transcription	HMEC	breast
24	chr6:101163200-101179600	Weak transcription	Fetal Intestine Small	intestine
25	chr6:101164600-101190200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:101164600-101190200	Weak transcription	Fetal Thymus	thymus
27	chr6:101165000-101174600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr6:101166200-101211000	Weak transcription	NH-A	brain
29	chr6:101168400-101174600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:101168400-101174600	Weak transcription	NHDF-Ad	bronchial
31	chr6:101168600-101174600	Weak transcription	NHLF	lung
32	chr6:101168600-101174800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:101168600-101174800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:101168600-101175000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:101168600-101175200	Weak transcription	Adipose Nuclei	Adipose
36	chr6:101168600-101177200	Weak transcription	Hela-S3	cervix
37	chr6:101168600-101179200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:101168600-101180600	Weak transcription	HUVEC	blood vessel
39	chr6:101168600-101189600	Weak transcription	Liver	Liver
40	chr6:101168600-101189800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:101168600-101190000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:101168600-101211200	Weak transcription	Osteobl	bone
43	chr6:101169000-101190000	Weak transcription	Gastric	stomach
44	chr6:101169000-101211000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:101169400-101174600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:101170000-101174400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:101170400-101186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:101170800-101178800	Weak transcription	A549	lung
49	chr6:101170800-101199200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:101171000-101175200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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