Variant report

Variant	rs17467330
Chromosome Location	chr12:26428988-26428989
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr12:26428399-26429105	ECC-1	luminal epithelium:	n/a	n/a
2	MYC	chr12:26426491-26429208	NB4	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807 chr12:26426664-26426673
3	ESR1	chr12:26428827-26429210	ECC-1	luminal epithelium:	n/a	n/a
4	FOXM1	chr12:26428423-26429125	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr12:26428443-26429070	A549	lung:	n/a	chr12:26428736-26428745
6	CTCF	chr12:26428940-26429090	HCPEpiC	choroid plexus:	n/a	n/a
7	EP300	chr12:26428457-26429235	ECC-1	luminal epithelium:	n/a	chr12:26428678-26428692
8	TEAD4	chr12:26428413-26429059	ECC-1	luminal epithelium:	n/a	n/a
9	ESR1	chr12:26428913-26429213	ECC-1	luminal epithelium:	n/a	n/a
10	NR3C1	chr12:26428760-26429148	A549	lung:	n/a	n/a
11	BHLHE40	chr12:26428818-26428990	K562	blood:	n/a	n/a
12	FOSL2	chr12:26428769-26429129	HepG2	liver:	n/a	n/a
13	TCF12	chr12:26428430-26429098	ECC-1	luminal epithelium:	n/a	chr12:26428736-26428745
14	MAFF	chr12:26428885-26429014	HepG2	liver:	n/a	n/a
15	TCF7L2	chr12:26428548-26429087	PANC-1	pancreas:	n/a	n/a
16	ZC3H11A	chr12:26428803-26429003	K562	blood:	n/a	n/a
17	TCF12	chr12:26428376-26429100	ECC-1	luminal epithelium:	n/a	chr12:26428736-26428745
18	ESR1	chr12:26428408-26429164	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr12:26428448-26429261	ECC-1	luminal epithelium:	n/a	n/a
20	JUND	chr12:26428966-26429009	K562	blood:	n/a	n/a
21	MAFF	chr12:26428799-26428989	K562	blood:	n/a	n/a
22	HNF4A	chr12:26428798-26429128	HepG2	liver:	n/a	n/a
23	MAX	chr12:26426511-26429193	NB4	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807 chr12:26426664-26426673

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:26397687..26399446-chr12:26426003..26429309,3	K562	blood:
2	chr12:26397649..26399446-chr12:26426022..26429309,3	K562	blood:
3	chr12:26427515..26429960-chr12:26436014..26437824,3	K562	blood:
4	chr12:26419878..26421463-chr12:26428029..26429779,2	K562	blood:
5	chr12:26427380..26429500-chr12:26439632..26442928,3	K562	blood:
6	chr12:26265923..26267917-chr12:26426739..26429196,2	K562	blood:
7	chr12:26427065..26429381-chr12:26431183..26432797,2	MCF-7	breast:
8	chr12:26419878..26422720-chr12:26427079..26429529,2	K562	blood:
9	chr12:26427783..26429500-chr12:26440794..26443678,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255750	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505994	0.89[EUR][1000 genomes]
rs1351336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17467365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17467456	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73072468	1.00[ASN][1000 genomes]
rs73072470	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73072474	1.00[ASN][1000 genomes]
rs73072489	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26421000-26429000	Enhancers	Fetal Intestine Small	intestine
2	chr12:26421800-26435800	Weak transcription	Gastric	stomach
3	chr12:26422600-26429200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:26423800-26429000	Enhancers	HMEC	breast
5	chr12:26423800-26429200	Enhancers	Stomach Mucosa	stomach
6	chr12:26424000-26429000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:26424000-26429200	Enhancers	Fetal Intestine Large	intestine
8	chr12:26424000-26431800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:26424200-26429000	Enhancers	Fetal Muscle Leg	muscle
10	chr12:26424400-26430000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:26424600-26429000	Enhancers	Brain Substantia Nigra	brain
12	chr12:26424600-26429000	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:26424600-26429000	Enhancers	Placenta	Placenta
14	chr12:26424600-26429000	Enhancers	Fetal Thymus	thymus
15	chr12:26424600-26429200	Enhancers	Brain Anterior Caudate	brain
16	chr12:26424600-26431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:26424600-26433400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:26424800-26447000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:26425800-26431600	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:26426000-26429800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:26426000-26432200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:26426400-26429000	Enhancers	HSMM	muscle
23	chr12:26426400-26429200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:26426600-26429000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:26426600-26429000	Enhancers	Brain Angular Gyrus	brain
26	chr12:26426600-26429200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:26426600-26429200	Enhancers	Adipose Nuclei	Adipose
28	chr12:26426600-26429200	Enhancers	NHLF	lung
29	chr12:26426600-26431400	Enhancers	NHDF-Ad	bronchial
30	chr12:26426600-26431600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:26426600-26431800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:26426800-26429000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:26426800-26429000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:26426800-26429000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:26426800-26429000	Enhancers	Esophagus	oesophagus
36	chr12:26426800-26429000	Enhancers	Ovary	ovary
37	chr12:26426800-26429200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:26426800-26432200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:26427200-26429200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:26427400-26429000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:26427600-26429000	Weak transcription	Small Intestine	intestine
42	chr12:26427600-26429000	Enhancers	GM12878-XiMat	blood
43	chr12:26427600-26429200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr12:26427600-26429200	Enhancers	Brain Hippocampus Middle	brain
45	chr12:26427600-26431000	Enhancers	Osteobl	bone
46	chr12:26427800-26429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:26427800-26429000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:26427800-26429200	Enhancers	NH-A	brain
49	chr12:26427800-26429200	Enhancers	NHEK	skin
50	chr12:26427800-26430000	Enhancers	HUVEC	blood vessel

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