Variant report

Variant	rs12202348
Chromosome Location	chr6:33810389-33810390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33806579..33810585-chr6:33811997..33816952,7	K562	blood:
2	chr6:33807979..33810907-chr6:34049317..34052125,2	MCF-7	breast:
3	chr6:33809219..33810769-chr6:33950586..33952486,2	MCF-7	breast:
4	chr6:33784583..33786250-chr6:33808935..33810623,2	MCF-7	breast:
5	chr6:33797997..33800270-chr6:33808477..33810957,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10947456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947457	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12154035	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206096	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34065257	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34945102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35123674	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35387652	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896152	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885773	chr6:33778964-33813043	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv885774	chr6:33778964-33840121	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv885775	chr6:33788055-33828178	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1032074	chr6:33795671-33835988	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1022403	chr6:33795671-33847345	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33805400-33833400	Weak transcription	Right Atrium	heart
2	chr6:33805600-33811400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:33806600-33818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:33807000-33811000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:33807000-33811000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:33807200-33810800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:33807200-33811600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:33807200-33819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:33807800-33811200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:33808200-33810800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:33808200-33811000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:33808400-33810600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:33808400-33810600	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:33808600-33810600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:33808600-33810800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:33808600-33810800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:33808600-33811000	Weak transcription	HSMMtube	muscle
18	chr6:33808600-33811200	Weak transcription	Colonic Mucosa	Colon
19	chr6:33808600-33818800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:33808600-33819400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:33809000-33810600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:33809000-33810800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:33809000-33810800	Weak transcription	HSMM	muscle
24	chr6:33809000-33810800	Weak transcription	NH-A	brain
25	chr6:33809000-33811000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:33809000-33811000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:33809000-33812000	Enhancers	K562	blood
28	chr6:33809000-33812600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:33809200-33810600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:33809200-33810600	Weak transcription	Osteobl	bone
31	chr6:33809200-33810800	Enhancers	A549	lung
32	chr6:33809200-33810800	Weak transcription	NHDF-Ad	bronchial
33	chr6:33809200-33811200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:33809200-33811200	Enhancers	Fetal Kidney	kidney
35	chr6:33809200-33811600	Weak transcription	Esophagus	oesophagus
36	chr6:33809200-33812400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:33809200-33812800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:33809400-33810400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:33809400-33810600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:33809400-33810600	Weak transcription	HMEC	breast
41	chr6:33809400-33812400	Weak transcription	NHEK	skin
42	chr6:33809400-33812600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:33809600-33810400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:33809600-33810400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:33809600-33813200	Weak transcription	Placenta	Placenta
46	chr6:33809600-33823200	Weak transcription	Spleen	Spleen
47	chr6:33809800-33811000	Bivalent Enhancer	HepG2	liver
48	chr6:33809800-33811400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:33809800-33811800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:33810200-33811600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links