Variant report

Variant	rs11064874
Chromosome Location	chr12:120107166-120107167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120105270-120107198	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:120107053-120107232	GM12878	blood:	n/a	n/a
3	REST	chr12:120107158-120107207	GM12878	blood:	n/a	n/a
4	ZNF384	chr12:120106878-120107259	K562	blood:	n/a	n/a
5	PAX5	chr12:120106926-120107187	GM12878	blood:	n/a	n/a
6	ZNF384	chr12:120106895-120107224	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120104750..120107660-chr12:120111377..120114502,3	MCF-7	breast:
2	chr12:120104335..120107623-chr12:120110345..120114528,7	MCF-7	breast:
3	chr12:120105122..120114412-chr12:120115205..120125435,13	MCF-7	breast:
4	chr12:120105026..120107337-chr12:120115955..120117891,2	MCF-7	breast:
5	chr12:120105686..120108054-chr12:120134136..120136155,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248636	TF binding region
PRKAB1	TF binding region
ENSG00000111725	Chromatin interaction
ENSG00000122966	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12309592	0.80[ASN][1000 genomes]
rs1985793	0.80[ASN][1000 genomes]
rs2393549	0.80[ASN][1000 genomes]
rs2393550	0.83[ASN][1000 genomes]
rs2893806	0.80[ASN][1000 genomes]
rs4767838	0.80[ASN][1000 genomes]
rs6490264	0.80[ASN][1000 genomes]
rs6490265	0.89[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	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120104800-120107800	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:120105000-120107400	Active TSS	Colonic Mucosa	Colon
3	chr12:120105200-120107400	Active TSS	Fetal Intestine Large	intestine
4	chr12:120105200-120107400	Active TSS	Pancreas	Pancrea
5	chr12:120105200-120107600	Active TSS	Esophagus	oesophagus
6	chr12:120105400-120107400	Active TSS	Fetal Intestine Small	intestine
7	chr12:120105400-120107600	Active TSS	Duodenum Mucosa	Duodenum
8	chr12:120105400-120107600	Active TSS	A549	lung
9	chr12:120105400-120107800	Active TSS	K562	blood
10	chr12:120105400-120108000	Active TSS	GM12878-XiMat	blood
11	chr12:120105600-120107200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr12:120105600-120107400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:120105600-120107400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:120105600-120107600	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr12:120106400-120107200	Flanking Active TSS	Dnd41	blood
16	chr12:120106400-120107400	Weak transcription	Spleen	Spleen
17	chr12:120106400-120109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:120106400-120111800	Weak transcription	Ovary	ovary
19	chr12:120106600-120107200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:120106600-120107400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:120106600-120107400	Weak transcription	Left Ventricle	heart
22	chr12:120106600-120107400	Weak transcription	Right Atrium	heart
23	chr12:120106600-120107400	Active TSS	HepG2	liver
24	chr12:120106600-120107600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:120106600-120107600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:120106600-120107600	Active TSS	Fetal Stomach	stomach
27	chr12:120106600-120107800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr12:120106600-120107800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:120106600-120108000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:120106600-120108800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:120106600-120109200	Weak transcription	Lung	lung
32	chr12:120106600-120109400	Weak transcription	Aorta	Aorta
33	chr12:120106600-120109800	Weak transcription	Gastric	stomach
34	chr12:120106600-120110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:120106800-120107400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:120106800-120107400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:120106800-120107400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:120106800-120107400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:120106800-120107400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:120106800-120107400	Weak transcription	Stomach Mucosa	stomach
41	chr12:120106800-120107600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:120106800-120107600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:120106800-120107600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:120106800-120107600	Weak transcription	Primary T cells from cord blood	blood
45	chr12:120106800-120107600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr12:120106800-120107600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:120106800-120107600	Enhancers	Liver	Liver
48	chr12:120106800-120107600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:120106800-120107600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:120106800-120107600	Weak transcription	NHDF-Ad	bronchial

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