Variant report

Variant	rs4765305
Chromosome Location	chr12:124430612-124430613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124426014..124428363-chr12:124429735..124431659,2	K562	blood:

Variant related genes	Relation type
ENSG00000119242	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1054852	0.81[AFR][1000 genomes]
rs10773048	0.98[ASN][1000 genomes]
rs10846579	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10846580	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057393	0.92[EUR][1000 genomes]
rs11057394	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11057396	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057397	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11057399	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11057400	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11057401	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057407	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057408	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057409	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057412	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057413	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11831913	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833002	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835839	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837287	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1187415	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12296259	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298484	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12301673	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12303671	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12303933	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12310367	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12311114	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12311848	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12316080	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317176	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12809125	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12809473	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12823740	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12824567	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12827409	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12829951	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12833624	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1882491	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2130382	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2178663	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3186071	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34114498	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34180676	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34854841	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34878139	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35099862	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35825716	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789967	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802999	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4405410	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575361	0.87[EUR][1000 genomes]
rs4765127	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4765148	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765219	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765335	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765528	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765541	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765562	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4930721	0.91[EUR][1000 genomes]
rs4930722	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930723	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930724	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930725	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930726	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55990776	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56041971	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488912	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488913	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488914	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131882	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132655	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133378	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7134121	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135314	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71458830	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7301953	0.87[EUR][1000 genomes]
rs7305864	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307053	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307277	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311233	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311969	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7312404	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955815	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958691	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961449	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973683	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975482	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7978610	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs952632	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9863	0.86[EUR][1000 genomes]
rs9971695	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4765305	RP11-380L11.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124417600-124443600	Weak transcription	Fetal Kidney	kidney
2	chr12:124418000-124431000	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:124418200-124430800	Strong transcription	Stomach Smooth Muscle	stomach
4	chr12:124418200-124431400	Strong transcription	Fetal Stomach	stomach
5	chr12:124418600-124430800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:124420200-124433000	Weak transcription	Small Intestine	intestine
7	chr12:124420600-124430800	Strong transcription	Pancreas	Pancrea
8	chr12:124420800-124432600	Weak transcription	HepG2	liver
9	chr12:124422400-124439200	Weak transcription	Psoas Muscle	Psoas
10	chr12:124423000-124432800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:124423600-124430800	Weak transcription	Dnd41	blood
12	chr12:124423600-124431600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:124423600-124442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:124424000-124431200	Strong transcription	Primary T cells from cord blood	blood
15	chr12:124426200-124430800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr12:124426800-124436800	Weak transcription	NHLF	lung
17	chr12:124427000-124431200	Strong transcription	Spleen	Spleen
18	chr12:124427000-124431400	Strong transcription	Fetal Intestine Small	intestine
19	chr12:124427000-124431600	Strong transcription	Fetal Intestine Large	intestine
20	chr12:124427000-124455000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:124427200-124434000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:124427200-124436800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
24	chr12:124427400-124436200	Enhancers	Fetal Brain Male	brain
25	chr12:124427600-124431200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:124427800-124431800	Enhancers	Brain Substantia Nigra	brain
27	chr12:124427800-124436800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:124427800-124444800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:124427800-124453400	Weak transcription	A549	lung
30	chr12:124428200-124432600	Weak transcription	Colonic Mucosa	Colon
31	chr12:124428400-124431000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:124428400-124431200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:124428400-124455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:124428600-124430800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:124428600-124433000	Weak transcription	NH-A	brain
37	chr12:124428800-124432000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:124428800-124433600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:124428800-124436400	Weak transcription	Fetal Heart	heart
40	chr12:124428800-124449800	Weak transcription	HSMM	muscle
41	chr12:124428800-124455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:124429000-124431200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:124429200-124431000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:124429400-124430800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:124429600-124431400	Enhancers	Brain Anterior Caudate	brain
46	chr12:124429600-124431800	Enhancers	Brain Angular Gyrus	brain
47	chr12:124429800-124432600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:124429800-124433200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:124430000-124431200	Enhancers	Fetal Brain Female	brain
50	chr12:124430000-124431400	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links