Variant report

Variant	rs12110796
Chromosome Location	chr6:106693276-106693277
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	chr6:106687715..106690914-chr6:106691161..106694111,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12664702	0.93[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299861	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2791119	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs478310	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs501804	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs511472	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs520296	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs538557	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57050291	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59800435	0.83[EUR][1000 genomes]
rs600076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs605457	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs627484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs632686	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs656994	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs672070	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs676090	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676640	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs710088	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs710089	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs710090	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs710091	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9372119	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9373838	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9373840	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9386521	0.87[ASN][1000 genomes]
rs9398076	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9398077	0.83[EUR][1000 genomes];0.93[ASN][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	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv1030367	chr6:106667748-106802072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
16	nsv538403	chr6:106667748-106802072	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv521859	chr6:106675819-106703618	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv520329	chr6:106683995-106703618	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106645800-106695400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:106647400-106695200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:106649200-106695200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:106649200-106695400	Weak transcription	HMEC	breast
5	chr6:106650000-106695200	Weak transcription	NHEK	skin
6	chr6:106664800-106693800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:106665400-106695200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:106671600-106693800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:106671600-106724400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:106675000-106695600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:106675400-106695600	Weak transcription	Fetal Intestine Large	intestine
12	chr6:106675400-106698800	Weak transcription	Pancreas	Pancrea
13	chr6:106675400-106705000	Weak transcription	K562	blood
14	chr6:106675600-106696800	Weak transcription	Fetal Lung	lung
15	chr6:106676000-106695400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:106676400-106739200	Weak transcription	Small Intestine	intestine
17	chr6:106676800-106695400	Weak transcription	Thymus	Thymus
18	chr6:106676800-106698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:106677000-106695400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:106677000-106699600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:106677600-106713000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:106680800-106695000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:106682200-106695200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:106682200-106695200	Weak transcription	Hela-S3	cervix
25	chr6:106683000-106694400	Weak transcription	Placenta	Placenta
26	chr6:106683000-106694600	Weak transcription	Fetal Thymus	thymus
27	chr6:106683000-106695200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:106683200-106695400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:106683400-106694000	Weak transcription	Osteobl	bone
30	chr6:106683400-106695200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:106683400-106695200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:106683400-106710000	Weak transcription	Fetal Stomach	stomach
33	chr6:106683400-106716600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:106684000-106694000	Weak transcription	NHDF-Ad	bronchial
35	chr6:106684000-106695000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:106684000-106695000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:106684000-106695000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:106684000-106710600	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:106684000-106710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:106684000-106720200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr6:106684200-106700000	Weak transcription	NH-A	brain
42	chr6:106684400-106695000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:106684400-106695200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:106684600-106694400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:106684800-106695200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:106684800-106695200	Weak transcription	A549	lung
47	chr6:106685400-106694800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:106686000-106704000	Weak transcription	HepG2	liver
49	chr6:106686600-106710400	Weak transcription	Left Ventricle	heart
50	chr6:106688000-106695200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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