Variant report

Variant	rs3757113
Chromosome Location	chr6:74225333-74225334
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
2	chr6:74221858..74225913-chr6:74344087..74347278,4	K562	blood:
3	chr6:74225322..74227120-chr6:74304460..74305982,2	K562	blood:
4	chr11:66404729..66407374-chr6:74223216..74225857,2	MCF-7	breast:
5	chr12:109124830..109125499-chr6:74225079..74225629,2	HCT-116	colon:
6	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
7	chr17:73775458..73776112-chr6:74225192..74226087,2	Hela-S3	cervix:
8	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
9	6:74062967-74076046..6:74208016-74225478	GM12878	blood:
10	chr6:74213210..74215284-chr6:74222845..74225477,3	MCF-7	breast:
11	chr19:27732624..27734230-chr6:74223460..74226002,2	K562	blood:
12	chr6:74212439..74215009-chr6:74224269..74226857,3	K562	blood:
13	6:74078047-74099067..6:74208016-74225478	GM12878	blood:
14	chr6:74170441..74172444-chr6:74224401..74225902,2	K562	blood:
15	chr6:74223467..74225709-chr6:74277005..74278629,2	K562	blood:
16	chr6:74225088..74225957-chr6:74362036..74362739,2	K562	blood:
17	chr6:74170216..74172624-chr6:74223234..74225389,2	MCF-7	breast:
18	chr6:74224069..74225864-chr6:74351456..74354072,2	K562	blood:
19	chr6:74223257..74225593-chr6:74265875..74267970,2	MCF-7	breast:
20	6:74160392-74184826..6:74208016-74225478	GM12878	blood:
21	chr6:74224731..74227421-chr6:74361806..74363965,4	MCF-7	breast:
22	chr6:74208769..74210712-chr6:74223210..74225571,3	K562	blood:
23	chr6:74205300..74207492-chr6:74221549..74225584,4	K562	blood:
24	chr6:74222886..74227431-chr6:74328724..74331054,7	K562	blood:
25	chr6:74209113..74211687-chr6:74224027..74227100,3	MCF-7	breast:
26	chr6:74225198..74226009-chr6:74319893..74320551,2	MCF-7	breast:
27	chr6:74223159..74225913-chr6:74344087..74347771,5	K562	blood:
28	chr6:74222835..74225633-chr6:74251462..74253727,3	K562	blood:
29	chr6:74225075..74226081-chr7:26239812..26240656,3	Hela-S3	cervix:
30	6:74099986-74112890..6:74208016-74225478	Hela-S3	cervix:
31	chr5:111496306..111498439-chr6:74223998..74225823,2	MCF-7	breast:
32	chr6:74224257..74227085-chr6:74333037..74337394,5	K562	blood:
33	chr6:74161254..74162844-chr6:74224289..74225838,2	MCF-7	breast:
34	chr6:74222064..74227666-chr6:74315829..74323019,13	MCF-7	breast:
35	chr6:74200414..74202246-chr6:74223331..74226250,3	K562	blood:
36	chr6:74223088..74226507-chr6:74303403..74307438,4	K562	blood:
37	chr6:74225295..74227678-chr6:74405377..74406988,2	MCF-7	breast:
38	chr6:74207658..74210612-chr6:74224071..74227518,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135297	Chromatin interaction
ENSG00000203909	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000156535	Chromatin interaction
ENSG00000110880	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000207023	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000224221	Chromatin interaction
ENSG00000224032	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000231652	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000238363	Chromatin interaction
ENSG00000235174	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000218459	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12111143	0.82[ASN][1000 genomes]
rs55974698	1.00[AMR][1000 genomes]
rs6923919	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6928566	0.82[ASN][1000 genomes]
rs9766528	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers 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 target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
9	nsv5350	chr6:74221995-74267088	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
10	nsv886159	chr6:74223153-74275405	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:74187600-74228400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:74192200-74226000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:74208400-74226000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:74208400-74226400	Weak transcription	Ovary	ovary
6	chr6:74211600-74225800	Weak transcription	Aorta	Aorta
7	chr6:74211600-74226000	Weak transcription	HepG2	liver
8	chr6:74211800-74225800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:74211800-74226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:74212400-74226000	Weak transcription	Spleen	Spleen
11	chr6:74214000-74228000	Weak transcription	Right Ventricle	heart
12	chr6:74214200-74225800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:74214200-74226000	Weak transcription	Fetal Brain Female	brain
14	chr6:74214600-74226000	Weak transcription	Gastric	stomach
15	chr6:74222800-74226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:74223000-74225600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr6:74224000-74225600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:74224200-74225800	Genic enhancers	Fetal Intestine Large	intestine
19	chr6:74224200-74226000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:74224200-74226000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:74224200-74226200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:74224200-74226400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:74224200-74228000	Strong transcription	Left Ventricle	heart
24	chr6:74224200-74228600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:74224200-74229000	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr6:74224200-74229000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:74224200-74229200	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr6:74224400-74226000	Weak transcription	Small Intestine	intestine
29	chr6:74224400-74227000	Strong transcription	Placenta	Placenta
30	chr6:74224400-74228400	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:74224400-74228400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr6:74224600-74225400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr6:74224600-74225600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:74224600-74225600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:74224600-74225800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
36	chr6:74224600-74225800	Strong transcription	Fetal Lung	lung
37	chr6:74224600-74225800	Enhancers	Hela-S3	cervix
38	chr6:74224600-74225800	Genic enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:74224600-74226000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:74224600-74226000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:74224600-74226200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:74224600-74226200	Strong transcription	Fetal Kidney	kidney
43	chr6:74224600-74226400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:74224600-74226400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr6:74224600-74226400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:74224600-74226400	Strong transcription	NHEK	skin
47	chr6:74224600-74226600	Enhancers	Fetal Heart	heart
48	chr6:74224600-74226800	Genic enhancers	Brain Hippocampus Middle	brain
49	chr6:74224600-74226800	Genic enhancers	Fetal Intestine Small	intestine
50	chr6:74224600-74226800	Strong transcription	HSMM	muscle

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