Variant report

Variant	rs10948641
Chromosome Location	chr6:13381709-13381710
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13378332..13381749-chr6:13612503..13616973,4	MCF-7	breast:
2	chr6:13379784..13382047-chr6:13573523..13576406,3	MCF-7	breast:
3	chr6:13379880..13381834-chr6:13381972..13383883,2	MCF-7	breast:
4	chr6:13379945..13382317-chr6:13389702..13392053,2	MCF-7	breast:
5	chr6:13355357..13357068-chr6:13380690..13383506,2	MCF-7	breast:
6	chr6:13379576..13381860-chr6:13392135..13393921,2	MCF-7	breast:
7	chr6:13380446..13382248-chr6:13711221..13713792,2	MCF-7	breast:
8	chr6:13379696..13382625-chr6:13383447..13385433,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11754614	1.00[EUR][1000 genomes]
rs11755431	1.00[EUR][1000 genomes]
rs11756942	1.00[EUR][1000 genomes]
rs11758235	1.00[EUR][1000 genomes]
rs11759443	1.00[EUR][1000 genomes]
rs2439559	1.00[EUR][1000 genomes]
rs2496171	1.00[EUR][1000 genomes]
rs28495821	1.00[EUR][1000 genomes]
rs4452644	1.00[EUR][1000 genomes]
rs526661	1.00[EUR][1000 genomes]
rs6911459	1.00[EUR][1000 genomes]
rs6912427	1.00[EUR][1000 genomes]
rs6920849	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6925659	1.00[EUR][1000 genomes]
rs73359121	1.00[EUR][1000 genomes]
rs754439	1.00[EUR][1000 genomes]
rs7742713	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878560	1.00[EUR][1000 genomes]
rs9463696	1.00[EUR][1000 genomes]
rs9474025	1.00[EUR][1000 genomes]
rs9474036	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9474040	1.00[EUR][1000 genomes]
rs9474061	1.00[EUR][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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13355600-13383400	Weak transcription	A549	lung
2	chr6:13365800-13385400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:13366000-13382800	Weak transcription	Liver	Liver
4	chr6:13366000-13386800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:13368000-13404600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:13368400-13386600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:13376000-13383400	Weak transcription	Psoas Muscle	Psoas
8	chr6:13376800-13386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:13376800-13395200	Weak transcription	NHEK	skin
10	chr6:13377800-13383400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:13377800-13395600	Weak transcription	Aorta	Aorta
12	chr6:13378200-13382000	Enhancers	Colonic Mucosa	Colon
13	chr6:13378200-13382400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr6:13378400-13382400	Enhancers	Stomach Mucosa	stomach
15	chr6:13378600-13382400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr6:13378600-13383200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:13378600-13383600	Enhancers	GM12878-XiMat	blood
18	chr6:13379200-13381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:13379200-13381800	Enhancers	Brain Substantia Nigra	brain
20	chr6:13379200-13382200	Enhancers	Fetal Heart	heart
21	chr6:13379200-13382800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:13379200-13386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:13379400-13381800	Weak transcription	Primary B cells from cord blood	blood
24	chr6:13379400-13381800	Enhancers	Brain Anterior Caudate	brain
25	chr6:13379400-13381800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:13379400-13382000	Enhancers	Brain Hippocampus Middle	brain
27	chr6:13379400-13382400	Enhancers	Adipose Nuclei	Adipose
28	chr6:13379400-13383600	Weak transcription	Spleen	Spleen
29	chr6:13379600-13381800	Enhancers	Stomach Smooth Muscle	stomach
30	chr6:13379800-13381800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr6:13379800-13383200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:13380200-13383600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:13380200-13389400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:13380400-13382000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:13380400-13382200	Enhancers	Right Atrium	heart
36	chr6:13380400-13382400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:13380400-13383400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:13380600-13381800	Enhancers	Primary hematopoietic stem cells	blood
39	chr6:13380600-13382000	Enhancers	K562	blood
40	chr6:13380600-13382400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:13380800-13381800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:13380800-13382200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:13380800-13382200	Enhancers	Left Ventricle	heart
44	chr6:13380800-13382400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:13381000-13381800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:13381000-13383400	Weak transcription	Fetal Lung	lung
47	chr6:13381000-13385800	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:13381200-13382000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:13381200-13382000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:13381200-13382400	Enhancers	Placenta Amnion	Placenta Amnion

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