Variant report

Variant	rs73319579
Chromosome Location	chr12:62687027-62687028
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62653472..62656120-chr12:62686475..62688056,2	K562	blood:
2	chr12:62685750..62688478-chr12:62691387..62693441,2	MCF-7	breast:
3	chr12:62665900..62668712-chr12:62685607..62687390,2	K562	blood:
4	chr12:62684895..62687117-chr12:62701993..62704018,2	MCF-7	breast:
5	chr12:62686999..62689791-chr12:62697810..62699486,2	MCF-7	breast:
6	chr12:62653472..62655567-chr12:62686117..62688056,2	K562	blood:
7	chr12:62661583..62664398-chr12:62686936..62688522,2	MCF-7	breast:
8	chr12:62683752..62687309-chr12:62693284..62697639,4	K562	blood:
9	chr12:62652239..62655569-chr12:62686648..62690779,4	MCF-7	breast:
10	chr12:62685329..62689047-chr12:62691891..62696883,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198673	Chromatin interaction
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs59663650	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7134026	1.00[EUR][1000 genomes]
rs73315670	1.00[EUR][1000 genomes]
rs73315682	1.00[EUR][1000 genomes]
rs73315685	1.00[EUR][1000 genomes]
rs73315696	1.00[EUR][1000 genomes]
rs73317650	1.00[EUR][1000 genomes]
rs73319549	1.00[EUR][1000 genomes]
rs73319581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321575	1.00[EUR][1000 genomes]
rs73321578	1.00[EUR][1000 genomes]
rs73321591	1.00[EUR][1000 genomes]
rs73321596	1.00[EUR][1000 genomes]
rs73323250	1.00[EUR][1000 genomes]
rs73323292	1.00[EUR][1000 genomes]
rs73323300	1.00[EUR][1000 genomes]
rs9739442	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62665000-62688000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:62667800-62689000	Weak transcription	HSMMtube	muscle
3	chr12:62669800-62688400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:62670000-62688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:62674800-62688600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:62676600-62688600	Weak transcription	Ovary	ovary
7	chr12:62677000-62688600	Weak transcription	Fetal Kidney	kidney
8	chr12:62679400-62696800	Weak transcription	Fetal Brain Male	brain
9	chr12:62682800-62688600	Weak transcription	HepG2	liver
10	chr12:62683200-62688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:62683600-62697600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:62684000-62716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:62684800-62687200	Genic enhancers	K562	blood
14	chr12:62684800-62687400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:62685000-62688600	Weak transcription	Primary B cells from cord blood	blood
16	chr12:62685000-62689400	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:62685000-62691000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:62685200-62687200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:62685200-62687400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:62685200-62688600	Weak transcription	Brain Substantia Nigra	brain
21	chr12:62685400-62687200	Enhancers	Osteobl	bone
22	chr12:62685400-62687400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:62685400-62691200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:62685600-62687400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr12:62685600-62687400	Enhancers	Right Ventricle	heart
26	chr12:62685600-62688000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:62685600-62688000	Weak transcription	HUVEC	blood vessel
28	chr12:62685800-62687400	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr12:62685800-62688000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:62685800-62688600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:62685800-62688600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:62685800-62688600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:62685800-62690400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:62686000-62687200	Strong transcription	Fetal Lung	lung
35	chr12:62686000-62687400	Enhancers	Adipose Nuclei	Adipose
36	chr12:62686000-62688000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:62686000-62688600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:62686000-62688600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:62686200-62687800	Weak transcription	Fetal Thymus	thymus
40	chr12:62686200-62688000	Weak transcription	Liver	Liver
41	chr12:62686200-62688600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:62686200-62688600	Weak transcription	Colonic Mucosa	Colon
43	chr12:62686200-62688600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:62686200-62688600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:62686200-62688600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:62686200-62688600	Weak transcription	HSMM	muscle
47	chr12:62686200-62688800	Weak transcription	NHEK	skin
48	chr12:62686200-62720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr12:62686400-62687200	ZNF genes & repeats	Fetal Brain Female	brain
50	chr12:62686400-62687400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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