Variant report

Variant	rs9811378
Chromosome Location	chr3:48674363-48674364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48673987-48674401	HepG2	liver:	n/a	n/a
2	FOXA1	chr3:48674340-48675131	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48673016..48675610-chr3:48677964..48680393,2	K562	blood:
2	chr3:48670750..48673706-chr3:48674188..48676105,2	MCF-7	breast:
3	chr3:48670764..48674544-chr3:48698929..48702803,9	K562	blood:
4	chr3:48670764..48674544-chr3:48699167..48702803,6	K562	blood:
5	chr3:48671382..48674659-chr3:48676453..48680538,5	MCF-7	breast:
6	chr3:48631986..48633856-chr3:48672080..48674450,2	K562	blood:
7	chr3:48670997..48674874-chr3:48698947..48702118,7	MCF-7	breast:
8	chr3:48673914..48675991-chr3:48685883..48687496,2	K562	blood:
9	chr3:48667529..48675453-chr3:48697968..48703139,10	MCF-7	breast:
10	chr3:48670890..48672785-chr3:48672866..48675614,2	MCF-7	breast:
11	chr3:48609681..48612514-chr3:48673616..48675208,2	K562	blood:

No data

Variant related genes	Relation type
SLC26A6	TF binding region
ENSG00000225697	Chromatin interaction
ENSG00000228350	Chromatin interaction
ENSG00000114270	Chromatin interaction
ENSG00000008300	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9848493	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs9878262	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs9882667	1.00[ASW][hapmap];1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS 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 miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS 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	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS 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	47 gene(s)	inside rSNPs	diseases
7	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv876763	chr3:48669648-48710310	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48671400-48674400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr3:48673000-48674400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:48673200-48674400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:48673200-48674400	Flanking Active TSS	Dnd41	blood
5	chr3:48673600-48674400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:48673600-48674400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:48673600-48674400	Enhancers	Spleen	Spleen
8	chr3:48673600-48675200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:48673600-48693400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:48673800-48674400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:48673800-48674400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr3:48673800-48674400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:48673800-48674400	Enhancers	Fetal Intestine Large	intestine
14	chr3:48673800-48674400	Enhancers	Fetal Lung	lung
15	chr3:48673800-48674400	Enhancers	Placenta	Placenta
16	chr3:48673800-48674400	Enhancers	Gastric	stomach
17	chr3:48673800-48674400	Enhancers	Lung	lung
18	chr3:48673800-48674400	Enhancers	Psoas Muscle	Psoas
19	chr3:48673800-48674400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr3:48673800-48674600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:48673800-48674600	Enhancers	HUVEC	blood vessel
22	chr3:48673800-48674800	Weak transcription	Esophagus	oesophagus
23	chr3:48673800-48674800	Genic enhancers	Fetal Brain Female	brain
24	chr3:48673800-48675000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:48673800-48675000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:48673800-48675000	Enhancers	Fetal Stomach	stomach
27	chr3:48673800-48675000	Enhancers	Fetal Thymus	thymus
28	chr3:48673800-48675000	Enhancers	A549	lung
29	chr3:48673800-48676400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:48673800-48676800	Weak transcription	Brain Anterior Caudate	brain
31	chr3:48673800-48678000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:48673800-48678400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:48673800-48692800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:48674000-48674400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr3:48674000-48674400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:48674000-48674400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:48674000-48674400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:48674000-48674400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:48674000-48674400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:48674000-48674400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:48674000-48674400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:48674000-48674400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:48674000-48674400	Enhancers	Colonic Mucosa	Colon
44	chr3:48674000-48674400	Enhancers	Fetal Intestine Small	intestine
45	chr3:48674000-48674400	Enhancers	Left Ventricle	heart
46	chr3:48674000-48674400	Enhancers	Right Ventricle	heart
47	chr3:48674000-48674400	Enhancers	GM12878-XiMat	blood
48	chr3:48674000-48674400	Enhancers	HMEC	breast
49	chr3:48674000-48674400	Enhancers	K562	blood
50	chr3:48674000-48674600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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