Variant report

Variant	rs57809395
Chromosome Location	chr12:51768115-51768116
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51766723..51770541-chr12:51770868..51773253,4	K562	blood:
2	chr12:51762201..51772634-chr12:51780037..51787148,16	MCF-7	breast:
3	chr12:51762991..51769009-chr12:51771008..51777485,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139629	Chromatin interaction
ENSG00000050438	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2067764	0.96[AFR][1000 genomes]
rs56302652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56316091	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57427250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57575786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59519264	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61612083	0.96[AFR][1000 genomes]
rs73309777	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309783	0.96[AFR][1000 genomes]
rs73309787	0.96[AFR][1000 genomes]
rs73309789	0.88[AFR][1000 genomes]
rs73309790	0.96[AFR][1000 genomes]
rs74093875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093884	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1038285	chr12:51762953-51916723	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51751200-51783400	Weak transcription	Right Atrium	heart
2	chr12:51753200-51781400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:51762000-51769400	Enhancers	HUVEC	blood vessel
4	chr12:51763200-51768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:51763200-51770600	Weak transcription	Colonic Mucosa	Colon
6	chr12:51763400-51770600	Weak transcription	Pancreas	Pancrea
7	chr12:51763600-51768200	Weak transcription	Gastric	stomach
8	chr12:51763600-51768200	Weak transcription	Spleen	Spleen
9	chr12:51763600-51770600	Weak transcription	Lung	lung
10	chr12:51763600-51777400	Weak transcription	K562	blood
11	chr12:51763800-51770600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:51764000-51770600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:51764200-51772200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:51764400-51769600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:51764400-51777000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:51765000-51768800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:51765400-51768800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:51765600-51768200	Strong transcription	Primary T cells from cord blood	blood
19	chr12:51765600-51770400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:51765600-51770800	Weak transcription	Brain Anterior Caudate	brain
21	chr12:51765600-51772800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:51765600-51773200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:51765600-51783200	Weak transcription	Esophagus	oesophagus
24	chr12:51765800-51770800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:51765800-51777400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:51765800-51781800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:51766000-51768200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:51766000-51768200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:51766000-51768200	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:51766000-51768200	Weak transcription	Brain Substantia Nigra	brain
31	chr12:51766000-51768200	Strong transcription	Dnd41	blood
32	chr12:51766000-51768400	Weak transcription	Placenta	Placenta
33	chr12:51766000-51768800	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr12:51766000-51769000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:51766000-51770400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:51766000-51771200	Weak transcription	Brain Angular Gyrus	brain
37	chr12:51766000-51772400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:51766000-51772600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:51766000-51772800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:51766000-51775000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:51766000-51777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:51766000-51777000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:51766200-51768200	Weak transcription	Adipose Nuclei	Adipose
44	chr12:51766200-51768200	Weak transcription	NH-A	brain
45	chr12:51766200-51768400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:51766200-51770000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:51766200-51775000	Weak transcription	HMEC	breast
48	chr12:51766200-51776600	Strong transcription	Fetal Intestine Small	intestine
49	chr12:51766200-51777400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:51766400-51768200	Strong transcription	Fetal Thymus	thymus

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