Variant report

Variant	rs6681420
Chromosome Location	chr1:47081137-47081138
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

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	POLR2A	chr1:47081085-47082992	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:47081083-47082978	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:47081012-47082875	GM19193	blood:	n/a	n/a
5	POLR2A	chr1:47080642-47081159	GM12878	blood:	n/a	n/a
6	MAZ	chr1:47080667-47083935	IMR90	lung:	n/a	chr1:47083058-47083068
7	POLR2A	chr1:47081133-47081802	GM12892	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47079661..47082285-chr1:47135813..47137705,2	K562	blood:
2	chr1:47069390..47072755-chr1:47079314..47082367,4	MCF-7	breast:
3	chr1:47080354..47082092-chr1:47110886..47112430,2	MCF-7	breast:
4	chr1:47068429..47072503-chr1:47081068..47085092,4	MCF-7	breast:
5	chr1:47080724..47082396-chr1:47183672..47185631,2	MCF-7	breast:
6	chr1:47077660..47081751-chr1:47132686..47135354,3	MCF-7	breast:
7	chr1:47078421..47080865-chr1:47080975..47083544,2	MCF-7	breast:

No data

Variant related genes	Relation type
MOB3C	TF binding region
ENSG00000142961	Chromatin interaction
ENSG00000123472	Chromatin interaction
ENSG00000079277	Chromatin interaction
ENSG00000159658	Chromatin interaction
ENSG00000186118	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11211321	0.83[AMR][1000 genomes]
rs11211322	0.83[AMR][1000 genomes]
rs12083666	0.83[AMR][1000 genomes]
rs12090191	0.83[AMR][1000 genomes]
rs12093618	0.83[AMR][1000 genomes]
rs58854755	0.85[AMR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47070400-47081200	Weak transcription	Fetal Brain Male	brain
2	chr1:47076400-47081400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:47076800-47081800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:47077000-47081200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:47077000-47081400	Enhancers	Left Ventricle	heart
6	chr1:47077000-47081400	Enhancers	Psoas Muscle	Psoas
7	chr1:47077000-47081600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:47077000-47082000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:47077200-47081200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:47077200-47081600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:47077400-47081200	Enhancers	HMEC	breast
12	chr1:47077600-47081600	Enhancers	Fetal Heart	heart
13	chr1:47078000-47081400	Weak transcription	HUVEC	blood vessel
14	chr1:47078400-47081600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:47078600-47081200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:47078800-47081200	Enhancers	Primary B cells from cord blood	blood
17	chr1:47078800-47081200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:47078800-47081200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:47078800-47081200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:47078800-47081400	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:47078800-47081800	Enhancers	Spleen	Spleen
22	chr1:47079000-47081200	Enhancers	Aorta	Aorta
23	chr1:47079000-47081200	Enhancers	Liver	Liver
24	chr1:47079000-47081200	Enhancers	Fetal Lung	lung
25	chr1:47079000-47081400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:47079000-47081400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:47079000-47081400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:47079000-47081400	Enhancers	Gastric	stomach
29	chr1:47079000-47081400	Enhancers	Stomach Mucosa	stomach
30	chr1:47079000-47081600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:47079000-47082000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr1:47079000-47082000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr1:47079200-47081200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:47079200-47081200	Enhancers	Dnd41	blood
35	chr1:47079200-47081200	Enhancers	HSMMtube	muscle
36	chr1:47079200-47081400	Enhancers	Esophagus	oesophagus
37	chr1:47079200-47081400	Enhancers	Lung	lung
38	chr1:47079200-47081600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:47079200-47081800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:47079400-47081200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:47079400-47081200	Enhancers	Colonic Mucosa	Colon
42	chr1:47079400-47081200	Enhancers	Fetal Intestine Small	intestine
43	chr1:47079400-47081200	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:47079400-47081400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:47079400-47081400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:47079400-47081800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr1:47079600-47081200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:47079600-47081200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:47079600-47081400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:47079600-47081400	Enhancers	K562	blood

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