Variant report

Variant	rs73309777
Chromosome Location	chr12:51754817-51754818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:51754815-51755865	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51440622..51443141-chr12:51753837..51755674,2	MCF-7	breast:
2	chr12:51754295..51757629-chr12:51759740..51762921,4	K562	blood:

Variant related genes	Relation type
GALNT6	TF binding region
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2067764	1.00[AFR][1000 genomes]
rs56302652	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56316091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57427250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57575786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57809395	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59519264	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61612083	1.00[AFR][1000 genomes]
rs73309783	1.00[AFR][1000 genomes]
rs73309787	1.00[AFR][1000 genomes]
rs73309789	0.92[AFR][1000 genomes]
rs73309790	1.00[AFR][1000 genomes]
rs74093875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093884	1.00[AFR][1000 genomes];1.00[AMR][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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51735400-51756000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:51736400-51765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:51744200-51761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:51745800-51763000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:51746000-51755600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:51746000-51756400	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr12:51746200-51757400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:51746200-51761400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:51746200-51762400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:51746200-51762600	Weak transcription	Colonic Mucosa	Colon
12	chr12:51746200-51762800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:51746600-51755600	Strong transcription	Fetal Intestine Small	intestine
14	chr12:51746800-51759000	Strong transcription	Primary T cells from cord blood	blood
15	chr12:51746800-51759600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:51746800-51762600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:51747400-51758200	Strong transcription	Thymus	Thymus
18	chr12:51747400-51759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:51747400-51759600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:51747400-51759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:51747400-51760000	Strong transcription	Fetal Thymus	thymus
22	chr12:51747400-51761200	Strong transcription	Dnd41	blood
23	chr12:51747400-51762800	Strong transcription	NHEK	skin
24	chr12:51747800-51756400	Strong transcription	NHLF	lung
25	chr12:51747800-51758200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:51748000-51757600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr12:51749000-51762000	Weak transcription	HUVEC	blood vessel
28	chr12:51749200-51761200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:51749600-51759400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:51750200-51755000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:51750200-51759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:51750400-51755600	Weak transcription	Brain Anterior Caudate	brain
33	chr12:51750600-51755200	Strong transcription	Fetal Intestine Large	intestine
34	chr12:51751200-51783400	Weak transcription	Right Atrium	heart
35	chr12:51751600-51757800	Weak transcription	Spleen	Spleen
36	chr12:51751600-51762400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:51751800-51755400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:51752000-51757400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:51752000-51758800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:51752000-51762800	Weak transcription	Lung	lung
41	chr12:51752000-51765000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:51752600-51755400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:51752600-51759600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:51752800-51755000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr12:51752800-51762600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:51752800-51765000	Weak transcription	Placenta	Placenta
47	chr12:51752800-51765200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:51753200-51756800	Strong transcription	Stomach Mucosa	stomach
49	chr12:51753200-51762000	Weak transcription	GM12878-XiMat	blood
50	chr12:51753200-51781400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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