Variant report

Variant	rs7523601
Chromosome Location	chr1:57285621-57285622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 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	FOXM1	chr1:57284744-57285732	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr1:57285227-57285688	ECC-1	luminal epithelium:	n/a	n/a
4	NR3C1	chr1:57285010-57285656	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr1:57285246-57285678	ECC-1	luminal epithelium:	n/a	n/a
6	FOXM1	chr1:57285034-57285766	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr1:57284861-57285704	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr1:57284931-57285685	ECC-1	luminal epithelium:	n/a	n/a
9	EP300	chr1:57283884-57285718	ECC-1	luminal epithelium:	n/a	n/a
10	TEAD4	chr1:57284852-57285699	ECC-1	luminal epithelium:	n/a	n/a
11	TCF12	chr1:57283869-57285778	ECC-1	luminal epithelium:	n/a	chr1:57284674-57284681
12	ESR1	chr1:57284984-57285811	ECC-1	luminal epithelium:	n/a	n/a
13	ESR1	chr1:57284964-57285725	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr1:57283893-57285776	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr1:57285098-57285724	ECC-1	luminal epithelium:	n/a	n/a
16	NFIC	chr1:57284792-57285719	ECC-1	luminal epithelium:	n/a	n/a
17	SRF	chr1:57285227-57285669	ECC-1	luminal epithelium:	n/a	n/a
18	NR3C1	chr1:57285160-57285650	ECC-1	luminal epithelium:	n/a	n/a
19	EP300	chr1:57283728-57285929	ECC-1	luminal epithelium:	n/a	n/a
20	TCF12	chr1:57283673-57285737	ECC-1	luminal epithelium:	n/a	chr1:57284674-57284681
21	ESR1	chr1:57284964-57285750	ECC-1	luminal epithelium:	n/a	n/a

No data

Variant related genes	Relation type
C1orf168	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11206926	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11206928	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11585758	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12083976	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17114400	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17114419	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17114421	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60932560	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6588652	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6588653	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6673223	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6694438	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72911331	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72911335	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7536170	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7536567	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7548156	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs947636	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57281800-57287600	Enhancers	Fetal Intestine Small	intestine
2	chr1:57282800-57285800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:57283000-57285800	Enhancers	Fetal Heart	heart
4	chr1:57283000-57286600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:57283000-57287200	Enhancers	Placenta	Placenta
6	chr1:57283400-57287200	Enhancers	Esophagus	oesophagus
7	chr1:57283600-57285800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:57283600-57286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:57283800-57285800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:57283800-57286600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:57283800-57287400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:57284000-57286600	Weak transcription	Psoas Muscle	Psoas
13	chr1:57284200-57285800	Enhancers	HMEC	breast
14	chr1:57284200-57287200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:57284600-57286400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:57284600-57286600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:57284600-57286600	Weak transcription	Osteobl	bone
18	chr1:57284800-57286200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:57284800-57286200	Flanking Active TSS	HepG2	liver
20	chr1:57284800-57286600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:57285200-57286200	Weak transcription	Fetal Thymus	thymus
22	chr1:57285200-57286600	Weak transcription	Fetal Lung	lung
23	chr1:57285200-57287200	Enhancers	Fetal Intestine Large	intestine
24	chr1:57285400-57285800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:57285400-57285800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:57285400-57286000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:57285400-57286400	Weak transcription	NHEK	skin
28	chr1:57285400-57286600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:57285400-57286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:57285400-57286600	Weak transcription	Colonic Mucosa	Colon
31	chr1:57285400-57286600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:57285400-57286600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:57285400-57286600	Weak transcription	Gastric	stomach
34	chr1:57285400-57286600	Weak transcription	Left Ventricle	heart
35	chr1:57285400-57286600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:57285400-57286800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:57285400-57286800	Weak transcription	Lung	lung
38	chr1:57285400-57287200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:57285400-57289000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:57285400-57305400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:57285600-57286000	Weak transcription	Right Atrium	heart
42	chr1:57285600-57286600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:57285600-57286600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:57285600-57286600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:57285600-57286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:57285600-57286600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:57285600-57286600	Weak transcription	Adipose Nuclei	Adipose
48	chr1:57285600-57286600	Weak transcription	Pancreas	Pancrea
49	chr1:57285600-57286600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:57285600-57287200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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