Variant report

Variant	rs73307741
Chromosome Location	chr12:51622720-51622721
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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11169773	1.00[EUR][1000 genomes]
rs55704499	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55749225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56298522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56664350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57515945	1.00[EUR][1000 genomes]
rs58190556	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58959803	1.00[EUR][1000 genomes]
rs58974544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59459113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59839052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59898968	1.00[EUR][1000 genomes]
rs60852569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305801	1.00[EUR][1000 genomes]
rs73307705	1.00[EUR][1000 genomes]
rs73307731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307746	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73307750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74091911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74091914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	chr12:51619600-51622800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:51619600-51631800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:51620000-51623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:51620000-51631800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:51620400-51622800	Weak transcription	Brain Germinal Matrix	brain
21	chr12:51620400-51622800	Weak transcription	Fetal Brain Female	brain
22	chr12:51621200-51622800	Weak transcription	Fetal Brain Male	brain
23	chr12:51621200-51632000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:51622600-51623200	Enhancers	HepG2	liver
25	chr12:51622600-51623600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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