Variant report

Variant	rs6703563
Chromosome Location	chr1:47083345-47083346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:47080951-47083959	IMR90	lung:	n/a	n/a
2	SMARCC1	chr1:47081534-47083403	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr1:47080667-47083935	IMR90	lung:	n/a	chr1:47083058-47083068

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47068429..47072503-chr1:47081068..47085092,4	MCF-7	breast:
2	chr1:47078421..47080865-chr1:47080975..47083544,2	MCF-7	breast:

Variant related genes	Relation type
MOB3C	TF binding region
MKNK1	TF binding region
ENSG00000079277	Chromatin interaction
ENSG00000142961	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11211305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12095096	1.00[CHB][hapmap]
rs12096548	1.00[CHB][hapmap]
rs17102441	1.00[CHB][hapmap]
rs17102456	1.00[CHB][hapmap]
rs28364800	0.84[ASN][1000 genomes]
rs3737735	1.00[CHB][hapmap]
rs3753358	0.84[ASN][1000 genomes]
rs3766216	1.00[CHB][hapmap]
rs3766238	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs3766239	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs56939666	0.92[ASN][1000 genomes]
rs61565631	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv522319	chr1:47080741-47094267	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47081800-47083400	Active TSS	Rectal Smooth Muscle	rectum
2	chr1:47082600-47083400	Flanking Active TSS	K562	blood
3	chr1:47082800-47083400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:47082800-47083400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr1:47082800-47083400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:47082800-47083400	Flanking Active TSS	Colonic Mucosa	Colon
7	chr1:47082800-47083400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:47082800-47083400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr1:47082800-47083400	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr1:47082800-47089600	Weak transcription	Small Intestine	intestine
11	chr1:47083000-47083400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:47083000-47083400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:47083000-47083400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:47083000-47083400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr1:47083000-47083400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:47083000-47083400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:47083000-47083400	Enhancers	Fetal Heart	heart
18	chr1:47083000-47083400	Bivalent Enhancer	Fetal Stomach	stomach
19	chr1:47083000-47083400	Enhancers	Lung	lung
20	chr1:47083000-47083400	Enhancers	Pancreas	Pancrea
21	chr1:47083000-47083400	Enhancers	Right Atrium	heart
22	chr1:47083000-47083600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:47083000-47083600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:47083000-47083600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:47083000-47084200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:47083000-47084200	Enhancers	Esophagus	oesophagus
27	chr1:47083000-47085600	Enhancers	GM12878-XiMat	blood
28	chr1:47083000-47085800	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:47083000-47088000	Weak transcription	Spleen	Spleen
30	chr1:47083000-47090800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:47083000-47094400	Weak transcription	Primary T cells from cord blood	blood
32	chr1:47083000-47094600	Weak transcription	Right Ventricle	heart
33	chr1:47083000-47097200	Weak transcription	Gastric	stomach
34	chr1:47083000-47100000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:47083200-47083400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:47083200-47083400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:47083200-47083400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr1:47083200-47083400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:47083200-47083400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:47083200-47083400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:47083200-47083400	Enhancers	Adipose Nuclei	Adipose
42	chr1:47083200-47083400	Enhancers	Brain Hippocampus Middle	brain
43	chr1:47083200-47083400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:47083200-47083400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:47083200-47083400	Enhancers	Brain Substantia Nigra	brain
46	chr1:47083200-47083400	Enhancers	Colon Smooth Muscle	Colon
47	chr1:47083200-47083400	Enhancers	Duodenum Mucosa	Duodenum
48	chr1:47083200-47083400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:47083200-47083400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr1:47083200-47083400	Enhancers	Fetal Muscle Trunk	muscle

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