Variant report

Variant	rs7968124
Chromosome Location	chr12:104233766-104233767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:104233534-104236201	SK-N-SH	brain:	n/a	n/a
2	RCOR1	chr12:104233766-104234163	K562	blood:	n/a	n/a
3	MXI1	chr12:104233369-104236110	IMR90	lung:	n/a	n/a
4	RCOR1	chr12:104233758-104234143	HepG2	liver:	n/a	n/a
5	CBX3	chr12:104233528-104234051	K562	blood:	n/a	n/a
6	POLR2A	chr12:104233750-104236063	MCF10A-Er-Src	breast:	n/a	n/a
7	RCOR1	chr12:104233755-104233978	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104186150..104188258-chr12:104233575..104235121,2	K562	blood:
2	chr12:104211319..104217420-chr12:104233507..104236073,8	MCF-7	breast:
3	chr12:104219162..104221997-chr12:104232338..104234895,2	K562	blood:
4	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
5	chr12:104186877..104189949-chr12:104233437..104236104,3	MCF-7	breast:
6	chr12:104208263..104213427-chr12:104233273..104236383,5	K562	blood:
7	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
8	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257327	TF binding region
ENSG00000257754	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000265072	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10745984	0.95[ASN][1000 genomes]
rs10778292	0.95[ASN][1000 genomes]
rs10861130	0.95[ASN][1000 genomes]
rs10861131	0.95[ASN][1000 genomes]
rs11111815	0.95[ASN][1000 genomes]
rs11111831	0.95[ASN][1000 genomes]
rs12302488	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12371102	0.95[ASN][1000 genomes]
rs2576969	0.87[ASN][1000 genomes]
rs3812801	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6539103	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302036	0.87[ASN][1000 genomes]
rs7971317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971563	0.95[ASN][1000 genomes]
rs9989004	0.95[ASN][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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104227800-104233800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:104228200-104233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:104229000-104233800	Weak transcription	Esophagus	oesophagus
4	chr12:104229200-104233800	Weak transcription	Spleen	Spleen
5	chr12:104231800-104235400	Active TSS	Stomach Smooth Muscle	stomach
6	chr12:104231800-104236000	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:104232000-104233800	Enhancers	Adipose Nuclei	Adipose
8	chr12:104232000-104233800	Enhancers	Fetal Intestine Large	intestine
9	chr12:104232000-104236000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:104232200-104235600	Active TSS	Aorta	Aorta
11	chr12:104232400-104234000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:104232400-104235800	Active TSS	Colon Smooth Muscle	Colon
13	chr12:104232600-104234000	Flanking Active TSS	HepG2	liver
14	chr12:104232600-104234200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr12:104232600-104234200	Flanking Active TSS	Liver	Liver
16	chr12:104232800-104233800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr12:104232800-104233800	Enhancers	Colonic Mucosa	Colon
18	chr12:104232800-104233800	Active TSS	Psoas Muscle	Psoas
19	chr12:104232800-104233800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr12:104232800-104234200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:104232800-104234200	Flanking Active TSS	NH-A	brain
22	chr12:104232800-104234400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:104232800-104235400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr12:104233000-104233800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:104233000-104233800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:104233000-104233800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:104233000-104233800	Active TSS	Brain Cingulate Gyrus	brain
28	chr12:104233000-104233800	Bivalent Enhancer	Fetal Lung	lung
29	chr12:104233000-104233800	Enhancers	Placenta	Placenta
30	chr12:104233000-104233800	Flanking Active TSS	NHEK	skin
31	chr12:104233000-104234000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:104233000-104234000	Flanking Active TSS	A549	lung
33	chr12:104233000-104234200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:104233000-104234200	Enhancers	Gastric	stomach
35	chr12:104233000-104235800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:104233000-104236000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr12:104233200-104233800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:104233200-104233800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:104233200-104234000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr12:104233200-104234000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:104233200-104234200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:104233200-104234200	Active TSS	Right Atrium	heart
43	chr12:104233400-104233800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:104233400-104233800	Enhancers	Primary B cells from cord blood	blood
45	chr12:104233400-104233800	Active TSS	Brain Angular Gyrus	brain
46	chr12:104233400-104233800	Active TSS	Brain Hippocampus Middle	brain
47	chr12:104233400-104233800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr12:104233400-104233800	Enhancers	Hela-S3	cervix
49	chr12:104233400-104234000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:104233400-104234000	Flanking Active TSS	HMEC	breast

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