Variant report

Variant	rs60932560
Chromosome Location	chr1:57286239-57286240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:57286160-57286310	HVMF	connective:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57223706..57224388-chr1:57286202..57287274,3	MCF-7	breast:

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	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11206928	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11585758	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12083976	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17114400	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17114419	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17114421	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6588652	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6588653	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6673223	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6694438	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72911331	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72911335	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7523601	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7536170	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7536567	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7548156	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs947636	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57281800-57287600	Enhancers	Fetal Intestine Small	intestine
2	chr1:57283000-57286600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:57283000-57287200	Enhancers	Placenta	Placenta
4	chr1:57283400-57287200	Enhancers	Esophagus	oesophagus
5	chr1:57283600-57286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:57283800-57286600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:57283800-57287400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:57284000-57286600	Weak transcription	Psoas Muscle	Psoas
9	chr1:57284200-57287200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:57284600-57286400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:57284600-57286600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:57284600-57286600	Weak transcription	Osteobl	bone
13	chr1:57284800-57286600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:57285200-57286600	Weak transcription	Fetal Lung	lung
15	chr1:57285200-57287200	Enhancers	Fetal Intestine Large	intestine
16	chr1:57285400-57286400	Weak transcription	NHEK	skin
17	chr1:57285400-57286600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:57285400-57286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:57285400-57286600	Weak transcription	Colonic Mucosa	Colon
20	chr1:57285400-57286600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:57285400-57286600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:57285400-57286600	Weak transcription	Gastric	stomach
23	chr1:57285400-57286600	Weak transcription	Left Ventricle	heart
24	chr1:57285400-57286600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:57285400-57286800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:57285400-57286800	Weak transcription	Lung	lung
27	chr1:57285400-57287200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:57285400-57289000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:57285400-57305400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:57285600-57286600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:57285600-57286600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:57285600-57286600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:57285600-57286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:57285600-57286600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:57285600-57286600	Weak transcription	Adipose Nuclei	Adipose
36	chr1:57285600-57286600	Weak transcription	Pancreas	Pancrea
37	chr1:57285600-57286600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:57285600-57287200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:57285600-57287200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:57285600-57287200	Enhancers	Liver	Liver
41	chr1:57285800-57286400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:57286000-57287400	Enhancers	Right Atrium	heart
43	chr1:57286200-57286600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:57286200-57286600	Enhancers	HepG2	liver
45	chr1:57286200-57286800	Enhancers	HMEC	breast
46	chr1:57286200-57287000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:57286200-57287200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:57286200-57287200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:57286200-57287600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:57286200-57287600	Enhancers	Fetal Heart	heart

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