Variant report

Variant	rs1037745
Chromosome Location	chr1:85640433-85640434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85637356..85640741-chr1:85640857..85643893,3	K562	blood:
2	chr1:85637776..85640576-chr1:85666291..85668626,2	K562	blood:
3	chr1:85638349..85640691-chr1:85643382..85648074,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf52-2	chr1:85639995-85642563	NONHSAT004238

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11161533	0.91[ASN][1000 genomes]
rs11805650	0.88[ASN][1000 genomes]
rs12021868	0.94[ASN][1000 genomes]
rs12022814	0.85[ASN][1000 genomes]
rs12028707	0.91[ASN][1000 genomes]
rs12034359	0.92[ASN][1000 genomes]
rs12034501	0.91[ASN][1000 genomes]
rs12034937	0.94[ASN][1000 genomes]
rs12036276	0.92[ASN][1000 genomes]
rs12039804	0.94[ASN][1000 genomes]
rs12040408	0.90[ASN][1000 genomes]
rs12041155	0.89[ASN][1000 genomes]
rs12045141	0.92[ASN][1000 genomes]
rs12084434	0.92[ASN][1000 genomes]
rs2007508	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2068427	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2994490	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3013111	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3209418	0.92[ASN][1000 genomes]
rs3364	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56191061	0.94[ASN][1000 genomes]
rs57516443	0.91[ASN][1000 genomes]
rs57530923	0.91[ASN][1000 genomes]
rs58068482	0.94[ASN][1000 genomes]
rs58246117	0.94[ASN][1000 genomes]
rs58604582	0.84[ASN][1000 genomes]
rs60875782	0.92[ASN][1000 genomes]
rs709785	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs709787	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72482805	0.90[ASN][1000 genomes]
rs7513769	0.90[ASN][1000 genomes]
rs817387	0.88[ASN][1000 genomes]
rs817395	0.87[ASN][1000 genomes]
rs817400	0.90[ASN][1000 genomes]
rs817409	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs817410	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs817413	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs817414	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs817416	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817417	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs817418	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817419	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817420	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817421	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817424	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817426	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817427	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817429	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817430	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817431	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817432	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817433	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817435	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817437	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817439	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817440	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817441	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817452	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 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	chr1:85608600-85655200	Weak transcription	Aorta	Aorta
2	chr1:85610400-85647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:85615400-85647600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:85615400-85655200	Weak transcription	Lung	lung
5	chr1:85615600-85654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
7	chr1:85617800-85648000	Weak transcription	Liver	Liver
8	chr1:85619000-85655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:85619200-85647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:85619800-85646800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:85621000-85645000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:85624400-85647600	Weak transcription	HSMM	muscle
13	chr1:85625600-85654600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:85626800-85655600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:85627200-85657400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:85627400-85654200	Weak transcription	Gastric	stomach
17	chr1:85627400-85655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:85627400-85663000	Weak transcription	NHEK	skin
19	chr1:85627600-85648000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:85627800-85655800	Weak transcription	NHDF-Ad	bronchial
21	chr1:85627800-85664400	Weak transcription	Osteobl	bone
22	chr1:85628400-85647400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:85628600-85648000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:85629000-85645200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:85629800-85653600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:85630600-85643600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:85630600-85647600	Weak transcription	Adipose Nuclei	Adipose
28	chr1:85630800-85647800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:85630800-85647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:85631200-85654000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:85631400-85654200	Weak transcription	HepG2	liver
32	chr1:85632000-85648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:85632600-85647800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:85632800-85647800	Weak transcription	Fetal Lung	lung
35	chr1:85633400-85655000	Weak transcription	Fetal Intestine Small	intestine
36	chr1:85633600-85654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:85633800-85642800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:85634000-85655200	Weak transcription	Fetal Stomach	stomach
39	chr1:85634200-85645200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:85638400-85654800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:85638600-85647400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:85638600-85655200	Weak transcription	Left Ventricle	heart
43	chr1:85638800-85647600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:85639000-85647600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:85639000-85647800	Weak transcription	Fetal Intestine Large	intestine
46	chr1:85639000-85665400	Weak transcription	Placenta	Placenta
47	chr1:85639400-85643000	Weak transcription	K562	blood
48	chr1:85640200-85640800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:85640200-85645200	Weak transcription	Fetal Heart	heart
50	chr1:85640400-85640600	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links