Variant report

Variant	rs12729727
Chromosome Location	chr1:150451499-150451500
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150438878..150440881-chr1:150449500..150452066,3	K562	blood:
2	chr1:150442421..150445048-chr1:150451034..150454000,2	K562	blood:
3	chr1:150446622..150448706-chr1:150450235..150453502,3	K562	blood:
4	chr1:150450230..150452275-chr1:150531741..150534593,2	K562	blood:
5	chr1:150451099..150453503-chr1:150523605..150526109,2	K562	blood:
6	chr1:150450798..150453495-chr1:150454152..150457067,2	K562	blood:
7	chr1:150449030..150453503-chr1:150523605..150527315,4	K562	blood:
8	chr1:150443022..150445048-chr1:150449563..150452609,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264553	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143382	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs1011546	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1043293	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10788874	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10888581	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10888582	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11205366	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11205368	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11205369	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11205376	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11205378	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11205380	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11205381	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11205383	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11580810	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11581051	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11582170	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11584488	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11588184	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11588185	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11588874	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11589873	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11799813	1.00[ASN][1000 genomes]
rs11800656	1.00[ASN][1000 genomes]
rs11801190	1.00[ASN][1000 genomes]
rs11802612	1.00[ASN][1000 genomes]
rs11803448	1.00[ASN][1000 genomes]
rs11806171	1.00[ASN][1000 genomes]
rs11807119	1.00[ASN][1000 genomes]
rs11808242	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11809332	1.00[ASN][1000 genomes]
rs11811159	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11811950	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12116970	0.94[EUR][1000 genomes]
rs12120775	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12120779	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12121133	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12121966	0.82[EUR][1000 genomes]
rs12123103	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12126130	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12126240	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12126327	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12126357	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12128653	0.86[EUR][1000 genomes]
rs12129491	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12130082	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12130583	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12131083	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12131672	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12132890	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12134306	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12136802	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12139488	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12140697	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12141218	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12142196	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12144091	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12145082	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12145566	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12145967	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12723364	1.00[ASN][1000 genomes]
rs12724450	1.00[ASN][1000 genomes]
rs12726415	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12729719	0.96[EUR][1000 genomes]
rs12730265	1.00[ASN][1000 genomes]
rs12731738	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12735903	1.00[ASN][1000 genomes]
rs12736584	1.00[ASN][1000 genomes]
rs12737757	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12738490	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12739019	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12741448	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12743761	1.00[ASN][1000 genomes]
rs12745446	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12745672	1.00[ASN][1000 genomes]
rs12749958	1.00[ASN][1000 genomes]
rs12756583	1.00[ASN][1000 genomes]
rs12757823	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12759551	1.00[ASN][1000 genomes]
rs1343965	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16836940	0.93[EUR][1000 genomes]
rs1962480	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2173376	0.85[EUR][1000 genomes]
rs28495360	1.00[ASN][1000 genomes]
rs34001546	1.00[ASN][1000 genomes]
rs34029237	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34233130	1.00[ASN][1000 genomes]
rs34247601	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34307322	1.00[ASN][1000 genomes]
rs34347495	1.00[ASN][1000 genomes]
rs34353365	0.85[EUR][1000 genomes]
rs34448981	1.00[ASN][1000 genomes]
rs34456572	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34514406	1.00[ASN][1000 genomes]
rs34542152	1.00[ASN][1000 genomes]
rs34609268	1.00[ASN][1000 genomes]
rs34906632	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34933405	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34964511	1.00[ASN][1000 genomes]
rs35094010	1.00[ASN][1000 genomes]
rs35322831	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35347210	1.00[ASN][1000 genomes]
rs35437473	1.00[ASN][1000 genomes]
rs35591746	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35699789	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35762205	1.00[ASN][1000 genomes]
rs35839143	1.00[ASN][1000 genomes]
rs35839589	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35935423	1.00[ASN][1000 genomes]
rs35989785	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36020363	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36029278	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36038795	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36122812	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3862206	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41264059	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41264139	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4845	1.00[ASN][1000 genomes]
rs4970946	0.93[EUR][1000 genomes]
rs55816515	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56214117	1.00[ASN][1000 genomes]
rs56321241	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58427317	1.00[ASN][1000 genomes]
rs58853199	1.00[ASN][1000 genomes]
rs66513313	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6686690	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6686809	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6694168	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6694394	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6703798	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67566205	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67654647	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67903303	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68097764	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71515775	1.00[ASN][1000 genomes]
rs71622688	1.00[ASN][1000 genomes]
rs71622689	1.00[ASN][1000 genomes]
rs71622694	1.00[ASN][1000 genomes]
rs71622695	1.00[ASN][1000 genomes]
rs71622696	1.00[ASN][1000 genomes]
rs71622698	1.00[ASN][1000 genomes]
rs71622700	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71622702	1.00[ASN][1000 genomes]
rs72696844	0.83[EUR][1000 genomes]
rs72696853	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72698829	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72698868	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72698870	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs74124663	1.00[ASN][1000 genomes]
rs74124686	1.00[ASN][1000 genomes]
rs74127616	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7417465	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7517003	1.00[ASN][1000 genomes]
rs7535275	1.00[ASN][1000 genomes]
rs7542068	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7546610	1.00[ASN][1000 genomes]
rs7552883	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9651184	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150444800-150459000	Weak transcription	GM12878-XiMat	blood
2	chr1:150445000-150452800	Enhancers	HepG2	liver
3	chr1:150445000-150459400	Weak transcription	Fetal Brain Male	brain
4	chr1:150445400-150459400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:150445800-150451600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:150445800-150459400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:150445800-150459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:150445800-150459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:150446000-150453600	Weak transcription	Brain Germinal Matrix	brain
10	chr1:150446000-150457200	Weak transcription	Hela-S3	cervix
11	chr1:150446200-150452000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:150446200-150459000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:150446400-150456000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:150446400-150457200	Weak transcription	Esophagus	oesophagus
15	chr1:150446400-150459000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:150446400-150459200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:150446400-150459400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:150446400-150459400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:150446400-150459400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:150446600-150459000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:150446600-150459200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:150446800-150459000	Weak transcription	Primary B cells from cord blood	blood
23	chr1:150447200-150457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:150447200-150459200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:150449000-150452400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:150449200-150452000	Enhancers	HMEC	breast
27	chr1:150449600-150459200	Weak transcription	Psoas Muscle	Psoas
28	chr1:150449800-150452000	Enhancers	Stomach Mucosa	stomach
29	chr1:150450200-150453000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:150450200-150457200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:150450600-150451600	Weak transcription	Liver	Liver
32	chr1:150450600-150451800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:150450600-150452000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:150450800-150451800	Weak transcription	Fetal Intestine Large	intestine
35	chr1:150450800-150452000	Enhancers	Placenta	Placenta
36	chr1:150450800-150452800	Enhancers	NHEK	skin
37	chr1:150450800-150457000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:150450800-150457800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:150451000-150457000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:150451200-150452000	Weak transcription	Fetal Intestine Small	intestine
41	chr1:150451200-150453600	Weak transcription	Ovary	ovary
42	chr1:150451200-150459400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:150451400-150452000	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links