Variant report

Variant	rs736167
Chromosome Location	chr12:50677100-50677101
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50641106..50644296-chr12:50675797..50678807,3	K562	blood:
2	chr12:50676951..50677680-chr3:43731810..43732785,2	NB4	blood:
3	chr12:50467357..50469479-chr12:50676933..50678853,2	K562	blood:
4	chr12:50675775..50678031-chr6:7107823..7110608,2	MCF-7	breast:
5	chr12:50676754..50678948-chr12:132378610..132380632,2	MCF-7	breast:
6	chr12:50676871..50679447-chr12:50689934..50691681,2	K562	blood:
7	chr12:50614322..50618314-chr12:50675052..50679891,5	K562	blood:
8	chr12:50617895..50619664-chr12:50676207..50678789,2	MCF-7	breast:
9	chr12:50504614..50508392-chr12:50676689..50680044,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124782	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000272368	Chromatin interaction
ENSG00000011198	Chromatin interaction
ENSG00000177169	Chromatin interaction
ENSG00000269529	Chromatin interaction
ENSG00000160746	Chromatin interaction
ENSG00000178449	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10747572	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783346	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783347	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12423130	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28364704	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815671	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61928280	0.80[EUR][1000 genomes]
rs7302422	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7974834	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8181651	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv702	chr12:50670870-50715934	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50674400-50677800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr12:50674600-50677600	Active TSS	Duodenum Mucosa	Duodenum
3	chr12:50674600-50677800	Active TSS	Fetal Intestine Large	intestine
4	chr12:50674800-50678000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:50675000-50677600	Active TSS	Colonic Mucosa	Colon
6	chr12:50675200-50677600	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr12:50675200-50677600	Active TSS	Rectal Smooth Muscle	rectum
8	chr12:50675400-50677800	Active TSS	Small Intestine	intestine
9	chr12:50675600-50677600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:50675800-50677600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:50675800-50677600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:50675800-50677600	Active TSS	Fetal Stomach	stomach
13	chr12:50675800-50677600	Active TSS	NHLF	lung
14	chr12:50675800-50678000	Active TSS	Aorta	Aorta
15	chr12:50676000-50677800	Active TSS	HSMMtube	muscle
16	chr12:50676000-50678400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:50676200-50677600	Active TSS	Fetal Brain Female	brain
18	chr12:50676200-50677800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:50676200-50678400	Active TSS	Pancreas	Pancrea
20	chr12:50676400-50677200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:50676400-50677200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:50676400-50677200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:50676400-50677200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:50676400-50677200	Flanking Active TSS	Dnd41	blood
25	chr12:50676400-50677400	Active TSS	Fetal Brain Male	brain
26	chr12:50676400-50677400	Active TSS	NH-A	brain
27	chr12:50676400-50677600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr12:50676400-50677600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:50676400-50677600	Active TSS	NHDF-Ad	bronchial
30	chr12:50676400-50677800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr12:50676400-50677800	Active TSS	Brain Angular Gyrus	brain
32	chr12:50676400-50677800	Active TSS	Colon Smooth Muscle	Colon
33	chr12:50676400-50677800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr12:50676400-50677800	Active TSS	Stomach Mucosa	stomach
35	chr12:50676400-50678000	Active TSS	Brain Substantia Nigra	brain
36	chr12:50676400-50678000	Active TSS	Esophagus	oesophagus
37	chr12:50676400-50678000	Active TSS	Gastric	stomach
38	chr12:50676400-50678200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:50676400-50678200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:50676400-50678200	Active TSS	Fetal Kidney	kidney
41	chr12:50676400-50678200	Active TSS	Right Ventricle	heart
42	chr12:50676400-50678600	Flanking Active TSS	Liver	Liver
43	chr12:50676600-50677200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr12:50676600-50677200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr12:50676600-50677200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr12:50676600-50677200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:50676600-50677200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:50676600-50677200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
49	chr12:50676600-50677200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr12:50676600-50677400	Active TSS	Placenta	Placenta

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