Variant report

Variant	rs57833783
Chromosome Location	chr12:39788934-39788935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39788415..39791571-chr12:39793998..39797026,3	K562	blood:
2	chr12:39785456..39789344-chr12:39830749..39834519,3	K562	blood:
3	chr12:39786953..39789254-chr12:39835889..39837939,2	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10876868	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876876	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876886	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11171674	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11171675	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11171676	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11171720	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11171730	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11171789	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11171891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171901	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171923	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11171938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830643	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11836755	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12228767	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12230604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424345	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1512936	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1512942	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1567739	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17127019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1828653	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955314	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2388320	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3736466	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57756176	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59695906	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60792848	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7137143	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953548	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964447	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7971515	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7979329	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7979444	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs958914	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][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	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39761800-39806000	Weak transcription	Hela-S3	cervix
2	chr12:39767600-39791400	Weak transcription	GM12878-XiMat	blood
3	chr12:39780400-39789800	Weak transcription	HepG2	liver
4	chr12:39781200-39791400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:39781400-39800200	Weak transcription	Brain Angular Gyrus	brain
6	chr12:39782200-39796800	Weak transcription	A549	lung
7	chr12:39784800-39789400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:39785000-39791200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:39785000-39796800	Weak transcription	HMEC	breast
10	chr12:39785000-39829200	Weak transcription	K562	blood
11	chr12:39785200-39796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:39785400-39789600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:39785400-39796600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:39785600-39790000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:39786000-39789000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:39786000-39789000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:39786000-39790000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:39786400-39791200	Weak transcription	Psoas Muscle	Psoas
19	chr12:39786400-39796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:39786600-39791400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:39787200-39789200	Weak transcription	Left Ventricle	heart
22	chr12:39787400-39789400	Weak transcription	Right Atrium	heart
23	chr12:39788000-39791400	Weak transcription	Gastric	stomach
24	chr12:39788200-39789000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:39788200-39789200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:39788200-39789400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:39788400-39789000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:39788400-39789400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:39788400-39790000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:39788400-39791400	Enhancers	Fetal Heart	heart
31	chr12:39788800-39789200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:39788800-39789200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:39788800-39789400	Weak transcription	Right Ventricle	heart
34	chr12:39788800-39789800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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