Variant report

Variant	rs1989533
Chromosome Location	chr7:39652564-39652565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39650565..39652654-chr7:39656669..39659606,2	MCF-7	breast:
2	chr7:39649814..39652615-chr7:39661583..39664092,3	MCF-7	breast:
3	chr7:39638958..39641769-chr7:39651985..39654836,2	K562	blood:
4	chr7:39651686..39654390-chr7:39655088..39657553,2	K562	blood:
5	chr7:39650430..39653003-chr7:39667356..39670007,2	K562	blood:

Variant related genes	Relation type
ENSG00000006451	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10236547	0.84[EUR][1000 genomes]
rs10245247	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10258946	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10266149	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10486798	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486800	0.88[EUR][1000 genomes]
rs12111908	0.98[ASN][1000 genomes]
rs17171603	0.82[ASN][1000 genomes]
rs17713754	0.82[ASN][1000 genomes]
rs17713951	0.86[ASN][1000 genomes]
rs17714049	0.98[ASN][1000 genomes]
rs17770594	0.82[ASN][1000 genomes]
rs17770612	0.82[ASN][1000 genomes]
rs17770625	0.82[ASN][1000 genomes]
rs2329455	0.82[ASN][1000 genomes]
rs2329460	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2329461	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2329462	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2329463	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723881	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723882	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723883	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723884	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723885	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58299139	0.82[ASN][1000 genomes]
rs59071947	0.82[ASN][1000 genomes]
rs61493712	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6968742	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375695	0.82[ASN][1000 genomes]
rs7777173	0.88[EUR][1000 genomes]
rs7785964	0.82[ASN][1000 genomes]
rs7796063	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39645200-39661600	Weak transcription	A549	lung
2	chr7:39648800-39656000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:39649400-39652800	Weak transcription	Osteobl	bone
4	chr7:39649400-39654600	Weak transcription	Pancreas	Pancrea
5	chr7:39649600-39653400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:39649600-39655400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:39649600-39655600	Weak transcription	HSMMtube	muscle
8	chr7:39649800-39653600	Weak transcription	HSMM	muscle
9	chr7:39649800-39655000	Weak transcription	Hela-S3	cervix
10	chr7:39649800-39655200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:39649800-39655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:39649800-39655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:39650000-39652600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:39650000-39653200	Weak transcription	NHDF-Ad	bronchial
15	chr7:39650000-39653400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:39650000-39653400	Weak transcription	NH-A	brain
17	chr7:39650000-39653600	Weak transcription	K562	blood
18	chr7:39650000-39654800	Weak transcription	Stomach Mucosa	stomach
19	chr7:39650000-39655000	Weak transcription	NHLF	lung
20	chr7:39650200-39655400	Weak transcription	HMEC	breast
21	chr7:39650400-39653200	Weak transcription	NHEK	skin
22	chr7:39651400-39653600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:39651800-39657000	Enhancers	HUVEC	blood vessel
24	chr7:39652000-39652600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:39652000-39652800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:39652400-39654400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:39652400-39656600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:39652400-39656800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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