Variant report

Variant	rs6580816
Chromosome Location	chr12:51622418-51622419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51621847..51624508-chr12:51633004..51635050,3	K562	blood:
2	chr12:51620289..51623485-chr12:51630590..51634514,4	MCF-7	breast:
3	chr12:51621810..51624341-chr12:51628368..51631959,3	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10783422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783423	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783425	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876154	0.83[EUR][1000 genomes]
rs10876155	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1130598	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3888223	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6421171	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580809	0.83[EUR][1000 genomes]
rs6580817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7305016	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7307217	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7309376	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310947	0.88[ASN][1000 genomes]
rs7314235	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7398443	0.82[EUR][1000 genomes]
rs7959901	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 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	chr12:51612800-51622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51613000-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:51613400-51631600	Weak transcription	Thymus	Thymus
4	chr12:51613400-51631800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:51613400-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:51613400-51632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:51613600-51631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:51613600-51631800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:51613600-51631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:51613800-51623600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:51614200-51631600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:51616400-51631600	Weak transcription	Gastric	stomach
13	chr12:51616800-51625000	Weak transcription	Ovary	ovary
14	chr12:51616800-51631800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:51619400-51631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:51619600-51622600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:51619600-51622800	Weak transcription	Brain Substantia Nigra	brain
18	chr12:51619600-51631800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:51620000-51622600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:51620000-51623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:51620000-51631800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:51620400-51622800	Weak transcription	Brain Germinal Matrix	brain
23	chr12:51620400-51622800	Weak transcription	Fetal Brain Female	brain
24	chr12:51621200-51622800	Weak transcription	Fetal Brain Male	brain
25	chr12:51621200-51632000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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