Variant report

Variant	rs12194727
Chromosome Location	chr6:161794839-161794840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161561088..161561843-chr6:161794669..161795618,3	K562	blood:
2	chr6:161522473..161523030-chr6:161794735..161795520,2	MCF-7	breast:
3	chr6:161152558..161154302-chr6:161794607..161797169,2	K562	blood:
4	chr6:161521066..161521786-chr6:161794667..161795242,2	K562	blood:
5	chr6:161170865..161172640-chr6:161793998..161795799,2	MCF-7	breast:
6	chr6:161774090..161774640-chr6:161794629..161795193,2	K562	blood:
7	chr6:161574028..161575026-chr6:161794391..161795585,3	MCF-7	breast:
8	chr6:161602544..161603046-chr6:161794558..161795538,2	K562	blood:
9	chr6:161152558..161155557-chr6:161793126..161797169,4	K562	blood:
10	chr6:161554160..161557722-chr6:161792909..161795003,3	K562	blood:
11	chr6:161736006..161736599-chr6:161794590..161795509,2	K562	blood:
12	chr6:161554722..161557722-chr6:161792909..161795003,3	K562	blood:
13	chr6:161170784..161171753-chr6:161794646..161795782,4	MCF-7	breast:

No data

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4077416	0.86[ASN][1000 genomes]
rs4587148	0.86[ASN][1000 genomes]
rs62435884	0.88[ASN][1000 genomes]
rs6907632	0.93[ASN][1000 genomes]
rs73021276	0.86[ASN][1000 genomes]
rs73021284	0.81[ASN][1000 genomes]
rs9347501	0.88[ASN][1000 genomes]
rs9355346	0.86[ASN][1000 genomes]
rs9355894	0.81[ASN][1000 genomes]
rs9456666	0.95[ASN][1000 genomes]
rs9458238	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active 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	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats 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	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv869611	chr6:161690974-161817564	Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1025168	chr6:161702621-161831885	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv886819	chr6:161712035-162520133	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv886820	chr6:161712880-162184932	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv830854	chr6:161739926-161927515	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv5577	chr6:161775026-161819733	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv518931	chr6:161793319-162406335	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161780600-161835800	Weak transcription	Right Atrium	heart
2	chr6:161788800-161796000	Weak transcription	Adipose Nuclei	Adipose
3	chr6:161789800-161795400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:161790600-161795200	Weak transcription	Gastric	stomach
5	chr6:161790800-161795200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:161790800-161796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:161791000-161796000	Weak transcription	HMEC	breast
8	chr6:161792000-161796200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:161792200-161795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:161793200-161795000	Enhancers	Brain Hippocampus Middle	brain
11	chr6:161794200-161796200	Enhancers	Brain Substantia Nigra	brain
12	chr6:161794400-161795000	Enhancers	Brain Angular Gyrus	brain
13	chr6:161794400-161795000	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:161794600-161795000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:161794600-161795800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr6:161794600-161796200	Enhancers	K562	blood
17	chr6:161794600-161797200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:161794800-161795000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr6:161794800-161795000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:161794800-161795000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:161794800-161795000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:161794800-161795000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:161794800-161795000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:161794800-161795000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:161794800-161795000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:161794800-161795000	Enhancers	Brain Anterior Caudate	brain
27	chr6:161794800-161795000	Enhancers	Fetal Stomach	stomach
28	chr6:161794800-161795000	Enhancers	A549	lung
29	chr6:161794800-161795000	Enhancers	HSMM	muscle
30	chr6:161794800-161795200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:161794800-161795200	Enhancers	Brain Germinal Matrix	brain
32	chr6:161794800-161795200	Enhancers	Fetal Heart	heart
33	chr6:161794800-161795200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr6:161794800-161795200	Enhancers	Fetal Muscle Leg	muscle
35	chr6:161794800-161795200	Enhancers	HepG2	liver
36	chr6:161794800-161795400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:161794800-161795400	Enhancers	Colon Smooth Muscle	Colon
38	chr6:161794800-161795400	Enhancers	Placenta	Placenta
39	chr6:161794800-161795400	Enhancers	Pancreas	Pancrea
40	chr6:161794800-161795400	Enhancers	NHDF-Ad	bronchial
41	chr6:161794800-161795400	Enhancers	Osteobl	bone
42	chr6:161794800-161795600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:161794800-161796000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr6:161794800-161796200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr6:161794800-161796200	Enhancers	NHEK	skin
46	chr6:161794800-161796600	Enhancers	Fetal Brain Male	brain

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