Variant report

Variant	rs12196315
Chromosome Location	chr6:167039766-167039767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167027136..167029744-chr6:167037956..167040696,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10946178	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199983	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12203904	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12204787	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3778367	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3778369	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3778370	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3778371	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3778372	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3778373	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3778375	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3799566	0.86[EUR][1000 genomes]
rs3799570	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3799571	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58727224	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60145177	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6456097	0.82[EUR][1000 genomes]
rs6456098	0.82[EUR][1000 genomes]
rs6916042	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6929319	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72503823	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs873070	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs873071	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs874153	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs916389	0.82[EUR][1000 genomes]
rs9348158	0.88[ASN][1000 genomes]
rs9356498	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9366034	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9459701	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3411974	chr6:167039387-167042335	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167034800-167039800	Weak transcription	Spleen	Spleen
2	chr6:167037200-167039800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:167037800-167040000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:167038200-167041800	Active TSS	Right Ventricle	heart
5	chr6:167038400-167042200	Active TSS	Psoas Muscle	Psoas
6	chr6:167038600-167040000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:167038600-167041800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:167038600-167042000	Active TSS	Lung	lung
9	chr6:167038800-167039800	Flanking Active TSS	HMEC	breast
10	chr6:167038800-167039800	Flanking Active TSS	NHEK	skin
11	chr6:167038800-167040000	Flanking Active TSS	Osteobl	bone
12	chr6:167039000-167039800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:167039000-167039800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr6:167039000-167039800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:167039000-167039800	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr6:167039000-167039800	Flanking Active TSS	HUVEC	blood vessel
17	chr6:167039000-167041200	Active TSS	Right Atrium	heart
18	chr6:167039000-167041800	Active TSS	Left Ventricle	heart
19	chr6:167039200-167039800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:167039200-167039800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:167039200-167040000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:167039200-167040000	Flanking Active TSS	NH-A	brain
23	chr6:167039200-167040200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:167039200-167040400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr6:167039200-167040600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:167039200-167041600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:167039200-167041800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:167039200-167041800	Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:167039200-167041800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr6:167039200-167041800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:167039200-167041800	Active TSS	HSMMtube	muscle
32	chr6:167039400-167039800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:167039400-167039800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr6:167039400-167039800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:167039400-167039800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr6:167039400-167039800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
37	chr6:167039400-167039800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:167039400-167039800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:167039400-167039800	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr6:167039400-167039800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr6:167039400-167039800	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr6:167039400-167039800	Flanking Active TSS	Fetal Brain Male	brain
43	chr6:167039400-167039800	Flanking Active TSS	Fetal Kidney	kidney
44	chr6:167039400-167039800	Flanking Active TSS	Fetal Lung	lung
45	chr6:167039400-167039800	Bivalent/Poised TSS	Placenta	Placenta
46	chr6:167039400-167039800	Flanking Active TSS	Stomach Mucosa	stomach
47	chr6:167039400-167040000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr6:167039400-167040000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:167039400-167040000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr6:167039400-167040000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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