Variant report

Variant	rs72993402
Chromosome Location	chr1:154850794-154850795
allele	A/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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154641865..154642849-chr1:154850744..154851617,4	K562	blood:
2	chr1:154732985..154733689-chr1:154850662..154851410,2	K562	blood:
3	chr1:154848210..154851147-chr1:154969290..154972007,2	K562	blood:
4	chr1:154738174..154739219-chr1:154850720..154851591,9	MCF-7	breast:
5	chr1:154642183..154644763-chr1:154849809..154851514,2	MCF-7	breast:
6	chr1:154586470..154587169-chr1:154850673..154851549,2	MCF-7	breast:
7	chr1:154842738..154843321-chr1:154850684..154851201,2	K562	blood:
8	chr1:154850719..154853708-chr1:154868283..154870650,2	MCF-7	breast:
9	chr1:154641878..154642825-chr1:154850662..154851834,10	MCF-7	breast:
10	chr1:154738195..154738722-chr1:154850574..154851210,2	MCF-7	breast:
11	chr1:154531372..154532440-chr1:154850697..154851289,4	MCF-7	breast:
12	chr1:154452484..154453008-chr1:154850669..154851579,2	K562	blood:
13	chr1:154849815..154852371-chr1:154881627..154884570,2	MCF-7	breast:
14	chr1:154843876..154848485-chr1:154848730..154854790,7	K562	blood:
15	chr1:154732930..154733557-chr1:154850674..154851626,3	MCF-7	breast:
16	chr1:154531579..154532180-chr1:154850720..154851668,3	K562	blood:
17	chr1:154532085..154532922-chr1:154850731..154851574,4	MCF-7	breast:
18	chr1:154850056..154852682-chr1:154903933..154905463,2	MCF-7	breast:
19	chr1:154844363..154847365-chr1:154847993..154851967,4	K562	blood:
20	chr1:154850673..154851447-chr1:155107628..155108468,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169241	Chromatin interaction
ENSG00000273110	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000143603	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12059540	0.85[EUR][1000 genomes]
rs12063335	0.85[EUR][1000 genomes]
rs12067954	0.85[EUR][1000 genomes]
rs60537431	0.85[EUR][1000 genomes]
rs6692661	0.85[EUR][1000 genomes]
rs72993366	0.85[EUR][1000 genomes]
rs72993369	0.85[EUR][1000 genomes]
rs72993370	0.85[EUR][1000 genomes]
rs72993373	0.85[EUR][1000 genomes]
rs72993374	0.85[EUR][1000 genomes]
rs72995417	0.85[EUR][1000 genomes]
rs72995418	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv432953	chr1:154820067-154855055	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv464073	chr1:154837796-154904840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv547960	chr1:154837796-154904840	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154843200-154850800	Weak transcription	Ovary	ovary
2	chr1:154843200-154854200	Weak transcription	Fetal Kidney	kidney
3	chr1:154843200-154854200	Weak transcription	Right Atrium	heart
4	chr1:154844400-154850800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:154848200-154851200	Enhancers	Pancreas	Pancrea
6	chr1:154849400-154851000	Enhancers	Liver	Liver
7	chr1:154849400-154851200	Enhancers	Fetal Intestine Small	intestine
8	chr1:154849600-154851000	Enhancers	Brain Anterior Caudate	brain
9	chr1:154849600-154851200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:154849600-154851200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:154849600-154851200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:154849600-154851200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:154849800-154851800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:154850000-154850800	Weak transcription	Brain Substantia Nigra	brain
15	chr1:154850000-154851200	Enhancers	Stomach Smooth Muscle	stomach
16	chr1:154850200-154851800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:154850200-154851800	Enhancers	Fetal Brain Female	brain
18	chr1:154850200-154852800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:154850400-154851200	Enhancers	Colonic Mucosa	Colon
20	chr1:154850400-154851400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:154850400-154851400	Enhancers	Brain Angular Gyrus	brain
22	chr1:154850400-154851800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:154850400-154853800	Weak transcription	K562	blood
24	chr1:154850400-154857800	Weak transcription	Lung	lung
25	chr1:154850600-154851200	Active TSS	HepG2	liver

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