Variant report

Variant	rs7523415
Chromosome Location	chr1:57285436-57285437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr1:57283952-57285717	ECC-1	luminal epithelium:	n/a	n/a
2	ZNF143	chr1:57285024-57285447	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:57284252-57285532	HepG2	liver:	n/a	n/a
4	FOXM1	chr1:57284744-57285732	ECC-1	luminal epithelium:	n/a	n/a
5	YY1	chr1:57284932-57285560	ECC-1	luminal epithelium:	n/a	chr1:57285157-57285169
6	MXI1	chr1:57284371-57285498	HepG2	liver:	n/a	n/a
7	ESR1	chr1:57285227-57285688	ECC-1	luminal epithelium:	n/a	n/a
8	HEY1	chr1:57284225-57285461	HepG2	liver:	n/a	n/a
9	NR3C1	chr1:57285010-57285656	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr1:57284767-57285543	ECC-1	luminal epithelium:	n/a	n/a
11	ESR1	chr1:57285246-57285678	ECC-1	luminal epithelium:	n/a	n/a
12	YY1	chr1:57284931-57285454	H1-hESC	embryonic stem cell:	n/a	chr1:57285157-57285169
13	TBP	chr1:57284945-57285618	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOXM1	chr1:57285034-57285766	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr1:57285026-57285460	HepG2	liver:	n/a	n/a
16	EP300	chr1:57285029-57285484	HepG2	liver:	n/a	n/a
17	TEAD4	chr1:57284861-57285704	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr1:57284765-57285561	ECC-1	luminal epithelium:	n/a	n/a
19	ZEB1	chr1:57284155-57285601	HepG2	liver:	n/a	n/a
20	MAX	chr1:57284931-57285685	ECC-1	luminal epithelium:	n/a	n/a
21	EP300	chr1:57283884-57285718	ECC-1	luminal epithelium:	n/a	n/a
22	TEAD4	chr1:57284852-57285699	ECC-1	luminal epithelium:	n/a	n/a
23	TCF12	chr1:57283869-57285778	ECC-1	luminal epithelium:	n/a	chr1:57284674-57284681
24	ESR1	chr1:57284984-57285811	ECC-1	luminal epithelium:	n/a	n/a
25	ESR1	chr1:57284964-57285725	ECC-1	luminal epithelium:	n/a	n/a
26	MAX	chr1:57283893-57285776	ECC-1	luminal epithelium:	n/a	n/a
27	ESR1	chr1:57285098-57285724	ECC-1	luminal epithelium:	n/a	n/a
28	NFIC	chr1:57284792-57285719	ECC-1	luminal epithelium:	n/a	n/a
29	SRF	chr1:57285227-57285669	ECC-1	luminal epithelium:	n/a	n/a
30	MAZ	chr1:57285268-57285482	HepG2	liver:	n/a	n/a
31	RAD21	chr1:57285049-57285441	H1-hESC	embryonic stem cell:	n/a	n/a
32	NR3C1	chr1:57285160-57285650	ECC-1	luminal epithelium:	n/a	n/a
33	EP300	chr1:57283728-57285929	ECC-1	luminal epithelium:	n/a	n/a
34	TCF12	chr1:57283673-57285737	ECC-1	luminal epithelium:	n/a	chr1:57284674-57284681
35	ESR1	chr1:57284964-57285750	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:57285399-57285449	PANC-1	pancreas:	n/a
2	chr1:57285399-57285449	HCF	heart:	n/a
3	chr1:57285399-57285449	BE2_C	brain:	n/a
4	chr1:57285399-57285449	MCF10A-Er-Src	breast:	n/a
5	chr1:57285399-57285449	Hela-S3	cervix:	n/a
6	chr1:57285399-57285449	NHDF-neo	bronchial:	n/a
7	chr1:57285399-57285449	HCM	heart:	n/a
8	chr1:57285399-57285449	NT2-D1	testis:	n/a
9	chr1:57285399-57285449	SK-N-SH	brain:	n/a
10	chr1:57285399-57285449	A549	lung:	n/a
11	chr1:57285399-57285449	ovcar-3	ovarian:	n/a
12	chr1:57285399-57285449	ProgFib	skin:	n/a
13	chr1:57285399-57285449	Jurkat	blood:	n/a
14	chr1:57285399-57285449	HRE	kidney:	n/a
15	chr1:57285399-57285449	ECC-1	luminal epithelium:	n/a
16	chr1:57285399-57285449	K562	blood:	n/a
17	chr1:57285399-57285449	HEK293	kidney:	embryo
18	chr1:57285399-57285449	AoSMC	blood vessel:	n/a
19	chr1:57285399-57285449	AG10803	skin:	n/a
20	chr1:57285399-57285449	GM12891	blood:	n/a
21	chr1:57285399-57285449	HEEpiC	esophagus:	n/a
22	chr1:57285399-57285449	HRCEpiC	kidney:	n/a
23	chr1:57285399-57285449	RPTEC	kidney:	n/a
24	chr1:57285399-57285449	HRPEpiC	eye:	n/a
25	chr1:57285399-57285449	NH-A	brain:	n/a
26	chr1:57285399-57285449	AG09309	skin:	n/a
27	chr1:57285399-57285449	CMK	blood:	n/a
28	chr1:57285399-57285449	HAEpiC	amniotic membrane:	n/a
29	chr1:57285399-57285449	SK-N-MC	brain:	n/a
30	chr1:57285399-57285449	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:57285399-57285449	SKMC	muscle:	n/a
32	chr1:57285399-57285449	AG04449	skin:	fetal
33	chr1:57285399-57285449	GM12878	blood:	n/a
34	chr1:57285399-57285449	GM12892	blood:	n/a
35	chr1:57285399-57285449	HCT-116	colon:	n/a
36	chr1:57285399-57285449	PrEC	prostate:	n/a
37	chr1:57285399-57285449	HMEC	breast:	n/a
38	chr1:57285399-57285449	HepG2	liver:	n/a
39	chr1:57285399-57285449	HUVEC	blood vessel:	n/a
40	chr1:57285399-57285449	SAEC	small airway:	n/a
41	chr1:57285399-57285449	HNPCEpiC	eye:	n/a
42	chr1:57285399-57285449	PFSK-1	brain:	n/a
43	chr1:57285399-57285449	AG04450	lung:	fetal
44	chr1:57285399-57285449	HIPEpiC	eye:	n/a
45	chr1:57285399-57285449	MCF-7	breast:	n/a
46	chr1:57285399-57285449	NB4	blood:	n/a
47	chr1:57285399-57285449	Hepatocyte	liver:	n/a
48	chr1:57285399-57285449	T-47D	breast:	n/a
49	chr1:57285399-57285449	NHBE	bronchial:	n/a
50	chr1:57285399-57285449	IMR90	lung:	fetal

No data

Variant related genes	Relation type
C1orf168	TF binding region
C1orf168	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13374012	1.00[MEX][hapmap]
rs6679850	1.00[MEX][hapmap]
rs6684103	1.00[MEX][hapmap]
rs6684287	1.00[MEX][hapmap]
rs6692425	1.00[MEX][hapmap]
rs6697608	1.00[MEX][hapmap]
rs856842	1.00[MEX][hapmap]

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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57281800-57287600	Enhancers	Fetal Intestine Small	intestine
2	chr1:57282000-57285600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:57282800-57285800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:57283000-57285600	Weak transcription	Hela-S3	cervix
5	chr1:57283000-57285800	Enhancers	Fetal Heart	heart
6	chr1:57283000-57286600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:57283000-57287200	Enhancers	Placenta	Placenta
8	chr1:57283400-57287200	Enhancers	Esophagus	oesophagus
9	chr1:57283600-57285800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:57283600-57286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:57283800-57285600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:57283800-57285800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:57283800-57286600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:57283800-57287400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:57284000-57286600	Weak transcription	Psoas Muscle	Psoas
16	chr1:57284200-57285600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:57284200-57285600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:57284200-57285600	Enhancers	Right Atrium	heart
19	chr1:57284200-57285800	Enhancers	HMEC	breast
20	chr1:57284200-57287200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:57284400-57285600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:57284400-57285600	Enhancers	Pancreas	Pancrea
23	chr1:57284600-57286400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:57284600-57286600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:57284600-57286600	Weak transcription	Osteobl	bone
26	chr1:57284800-57286200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:57284800-57286200	Flanking Active TSS	HepG2	liver
28	chr1:57284800-57286600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:57285000-57285600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:57285000-57285600	Enhancers	Adipose Nuclei	Adipose
31	chr1:57285000-57285600	Flanking Active TSS	Liver	Liver
32	chr1:57285200-57285600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:57285200-57285600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:57285200-57286200	Weak transcription	Fetal Thymus	thymus
35	chr1:57285200-57286600	Weak transcription	Fetal Lung	lung
36	chr1:57285200-57287200	Enhancers	Fetal Intestine Large	intestine
37	chr1:57285400-57285600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:57285400-57285800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:57285400-57285800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:57285400-57286000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:57285400-57286400	Weak transcription	NHEK	skin
42	chr1:57285400-57286600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:57285400-57286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:57285400-57286600	Weak transcription	Colonic Mucosa	Colon
45	chr1:57285400-57286600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:57285400-57286600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:57285400-57286600	Weak transcription	Gastric	stomach
48	chr1:57285400-57286600	Weak transcription	Left Ventricle	heart
49	chr1:57285400-57286600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:57285400-57286800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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