Variant report

Variant	rs2930950
Chromosome Location	chr5:68534289-68534290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68534182..68537947-chr5:68660840..68664102,4	K562	blood:
2	chr5:68533315..68535936-chr5:68536358..68538976,2	K562	blood:
3	chr5:68528908..68532551-chr5:68533389..68536013,4	MCF-7	breast:
4	chr5:68511993..68513624-chr5:68533582..68536463,2	MCF-7	breast:
5	chr5:68530055..68532156-chr5:68533925..68536230,3	K562	blood:
6	chr5:68529704..68533341-chr5:68533925..68536755,6	K562	blood:

Variant related genes	Relation type
ENSG00000134058	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000085231	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10058852	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1976102	1.00[EUR][1000 genomes]
rs2069429	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2130755	1.00[EUR][1000 genomes]
rs2930947	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2932779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932786	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932791	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932792	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972359	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972360	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972362	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972363	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972372	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972375	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2972383	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972389	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101719	0.99[ASN][1000 genomes]
rs6877441	0.99[ASN][1000 genomes]
rs7715704	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7716060	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7720249	0.88[ASN][1000 genomes]
rs7729799	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734181	0.88[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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1795469	chr5:68534233-68565285	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:68531600-68554600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:68531800-68534400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:68531800-68534600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:68531800-68534600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:68531800-68534800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:68531800-68535800	Weak transcription	Right Ventricle	heart
10	chr5:68531800-68538800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:68531800-68545800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:68531800-68552200	Weak transcription	Colonic Mucosa	Colon
13	chr5:68531800-68552200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:68531800-68554600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:68531800-68556000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:68531800-68556800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:68532000-68534600	Weak transcription	Small Intestine	intestine
18	chr5:68532000-68535000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:68532200-68551400	Weak transcription	Psoas Muscle	Psoas
20	chr5:68532200-68553400	Weak transcription	Fetal Heart	heart
21	chr5:68532400-68534400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:68532400-68534800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:68532400-68535000	Enhancers	HMEC	breast
24	chr5:68532400-68535800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:68532400-68536800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:68532400-68537000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:68532400-68537200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:68532400-68539600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:68532400-68551600	Weak transcription	Ovary	ovary
30	chr5:68532400-68558600	Weak transcription	Brain Substantia Nigra	brain
31	chr5:68532400-68558800	Weak transcription	Brain Angular Gyrus	brain
32	chr5:68532400-68563600	Weak transcription	Fetal Brain Male	brain
33	chr5:68532400-68574600	Weak transcription	Spleen	Spleen
34	chr5:68532600-68536000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:68532600-68537000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:68532800-68534400	Genic enhancers	Gastric	stomach
37	chr5:68532800-68534400	Genic enhancers	K562	blood
38	chr5:68532800-68535400	Strong transcription	Fetal Stomach	stomach
39	chr5:68532800-68540800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:68533000-68534400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:68533000-68534400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:68533000-68534400	Genic enhancers	Lung	lung
43	chr5:68533000-68534400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
44	chr5:68533000-68534600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:68533000-68534800	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr5:68533000-68535200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr5:68533000-68535600	Strong transcription	Fetal Kidney	kidney
48	chr5:68533000-68536000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:68533000-68537000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:68533000-68537000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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