Variant report

Variant	rs12508992
Chromosome Location	chr4:76660309-76660310
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76655795..76658592-chr4:76658878..76661383,2	K562	blood:
2	chr4:76659919..76662725-chr4:76666172..76667958,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10028291	0.83[AFR][1000 genomes]
rs10031352	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031616	0.89[AFR][1000 genomes]
rs11097112	0.87[AFR][1000 genomes]
rs11097117	0.94[ASN][1000 genomes]
rs11097121	0.94[ASN][1000 genomes]
rs11097122	0.83[AFR][1000 genomes]
rs11727895	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728073	0.83[AFR][1000 genomes]
rs11732850	0.80[ASN][1000 genomes]
rs11734358	0.87[ASN][1000 genomes]
rs11935073	0.94[ASN][1000 genomes]
rs12233780	0.94[ASN][1000 genomes]
rs12505147	0.92[ASN][1000 genomes]
rs12505149	0.87[AFR][1000 genomes]
rs12506101	0.92[ASN][1000 genomes]
rs12508200	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12511212	0.94[ASN][1000 genomes]
rs12511575	0.91[ASN][1000 genomes]
rs13133144	0.90[AFR][1000 genomes]
rs13137229	0.80[ASN][1000 genomes]
rs13145290	0.83[AFR][1000 genomes]
rs16996019	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17000786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17000794	0.94[ASN][1000 genomes]
rs17000864	0.94[ASN][1000 genomes]
rs186563	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089253	0.94[ASN][1000 genomes]
rs2175640	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2271472	0.83[AFR][1000 genomes]
rs28573275	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680723	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869175	0.92[AFR][1000 genomes]
rs324686	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324688	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324690	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324691	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324693	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324696	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324697	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324698	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324700	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324701	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324703	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324709	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs324712	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324713	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324719	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324722	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324723	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324727	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324730	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324731	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324733	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324735	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324738	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324740	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34855591	0.81[ASN][1000 genomes]
rs4262008	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859408	0.89[AFR][1000 genomes]
rs4859409	0.83[AFR][1000 genomes]
rs4859555	0.87[AFR][1000 genomes]
rs55664143	0.83[AFR][1000 genomes]
rs61603278	0.94[ASN][1000 genomes]
rs6531901	0.90[AFR][1000 genomes]
rs6531934	0.94[ASN][1000 genomes]
rs6822619	0.81[EUR][1000 genomes]
rs6827016	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847333	0.85[AFR][1000 genomes]
rs6856162	0.94[ASN][1000 genomes]
rs72858061	0.94[ASN][1000 genomes]
rs7657198	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663617	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7680729	0.91[ASN][1000 genomes]
rs7684778	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7693127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76673400	Weak transcription	Lung	lung
2	chr4:76650800-76675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:76650800-76675800	Weak transcription	Esophagus	oesophagus
4	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:76651200-76660800	Weak transcription	Thymus	Thymus
6	chr4:76651200-76661400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:76651200-76663600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:76651400-76667000	Weak transcription	Gastric	stomach
9	chr4:76651800-76667000	Weak transcription	Primary B cells from cord blood	blood
10	chr4:76652000-76660600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:76652000-76673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:76652000-76675200	Weak transcription	Fetal Thymus	thymus
13	chr4:76652000-76675400	Weak transcription	Placenta	Placenta
14	chr4:76652000-76675600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:76652000-76675600	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:76652000-76675600	Weak transcription	Spleen	Spleen
17	chr4:76652000-76696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:76652200-76660400	Weak transcription	Right Ventricle	heart
19	chr4:76652200-76664400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:76652200-76670800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:76652200-76675600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:76652400-76660800	Weak transcription	Stomach Mucosa	stomach
23	chr4:76652400-76662000	Weak transcription	Brain Angular Gyrus	brain
24	chr4:76652400-76665600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:76652400-76675200	Weak transcription	Fetal Kidney	kidney
26	chr4:76652400-76675600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:76652400-76675800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:76652400-76675800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
30	chr4:76652600-76663200	Weak transcription	Fetal Intestine Small	intestine
31	chr4:76652600-76670000	Weak transcription	K562	blood
32	chr4:76652600-76675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:76652600-76675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:76652800-76670000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:76652800-76675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:76652800-76675600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:76652800-76675600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:76653000-76663600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:76653000-76669400	Weak transcription	HUVEC	blood vessel
40	chr4:76653200-76665600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:76653200-76665600	Weak transcription	A549	lung
42	chr4:76653200-76670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:76653200-76670600	Weak transcription	Primary T cells from cord blood	blood
44	chr4:76653200-76675200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:76653200-76675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:76653200-76675400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:76653200-76675600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:76653200-76675600	Weak transcription	Dnd41	blood
49	chr4:76653400-76666200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:76653600-76670000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links