Variant report

Variant	rs72962677
Chromosome Location	chr1:92976519-92976520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92975971..92978255-chr1:92987439..92988959,2	K562	blood:
2	chr1:92975440..92978255-chr1:92987459..92989945,2	K562	blood:
3	chr1:92970721..92973129-chr1:92975876..92977774,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56771910	1.00[AFR][1000 genomes]
rs72962656	1.00[AFR][1000 genomes]
rs72962657	1.00[AFR][1000 genomes]
rs72962669	1.00[AFR][1000 genomes]
rs72964725	1.00[AFR][1000 genomes]
rs72964727	1.00[AFR][1000 genomes]
rs72964748	1.00[AFR][1000 genomes]
rs72964760	1.00[AFR][1000 genomes]
rs72966719	1.00[AFR][1000 genomes]
rs72966745	0.83[AFR][1000 genomes]
rs72966760	1.00[AFR][1000 genomes]
rs72966784	1.00[AFR][1000 genomes]
rs72966791	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr1:92952800-92991400	Weak transcription	Pancreas	Pancrea
2	chr1:92967800-92978400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:92967800-92986000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:92968200-92977400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:92968200-93042800	Weak transcription	HSMM	muscle
6	chr1:92968400-92997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:92969400-92979800	Weak transcription	HSMMtube	muscle
8	chr1:92969600-92984200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:92969800-92992000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:92969800-92996800	Weak transcription	NH-A	brain
11	chr1:92970000-92992200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:92970600-92981800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:92970800-92977200	Weak transcription	GM12878-XiMat	blood
14	chr1:92970800-92978800	Weak transcription	Placenta	Placenta
15	chr1:92971400-92978600	Weak transcription	Liver	Liver
16	chr1:92971400-92998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:92972600-93013400	Weak transcription	Ovary	ovary
18	chr1:92973000-92983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:92973400-92987400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:92973800-92997600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:92973800-93002200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:92975200-92979600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:92975200-92980600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:92975600-92980400	Weak transcription	Dnd41	blood
25	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach

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