Variant report

Variant	rs2071802
Chromosome Location	chr3:50412945-50412946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50405624..50407617-chr3:50410447..50413698,3	K562	blood:
2	chr3:50394292..50396980-chr3:50412055..50414700,2	K562	blood:
3	chr3:50412196..50414182-chr3:50466596..50468838,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10510755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12629572	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12635953	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1989839	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2071803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073498	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073499	0.93[CEU][hapmap]
rs2097247	0.89[ASN][1000 genomes]
rs2233474	0.93[CEU][hapmap]
rs2236939	0.86[CEU][hapmap]
rs2239801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2301639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28365992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3755832	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3806708	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs41291724	0.89[ASN][1000 genomes]
rs4141060	0.93[CEU][hapmap]
rs45536634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57319506	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57462170	0.82[EUR][1000 genomes]
rs57838764	0.82[EUR][1000 genomes]
rs58051625	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60247651	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6446202	0.81[CEU][hapmap]
rs6776145	1.00[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
6	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
8	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
9	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
10	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
14	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
15	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
16	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
17	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	esv3360251	chr3:50410373-50413321	Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	esv3403088	chr3:50410398-50412946	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
20	nsv590269	chr3:50410778-50413707	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50403200-50417200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:50404600-50415400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:50405000-50416400	Weak transcription	Gastric	stomach
4	chr3:50407400-50413400	Enhancers	Brain Germinal Matrix	brain
5	chr3:50408400-50413200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:50408600-50413000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:50408800-50413000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:50408800-50423800	Weak transcription	Fetal Brain Female	brain
9	chr3:50409000-50419600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:50409200-50420200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:50410000-50413400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:50410200-50415800	Weak transcription	Spleen	Spleen
13	chr3:50411400-50419200	Weak transcription	Fetal Kidney	kidney
14	chr3:50411400-50422600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:50411400-50430000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:50411600-50416400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:50412000-50413000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:50412000-50413000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:50412000-50413000	Enhancers	Fetal Muscle Leg	muscle
20	chr3:50412000-50413200	Strong transcription	Lung	lung
21	chr3:50412000-50413400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr3:50412000-50413600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:50412000-50414000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:50412200-50413400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:50412200-50413600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr3:50412600-50413200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:50412800-50413400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:50412800-50413600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:50412800-50417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:50412800-50428000	Weak transcription	Right Ventricle	heart

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