Variant report

Variant	rs73163655
Chromosome Location	chr2:10081704-10081705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:10081225-10081828	HepG2	liver:	n/a	n/a
2	FOXA2	chr2:10081323-10081730	HepG2	liver:	n/a	n/a
3	GATA3	chr2:10081652-10082285	MCF-7	breast:	n/a	n/a
4	ARID3A	chr2:10081267-10081741	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:10081242-10081775	HepG2	liver:	n/a	n/a
6	TEAD4	chr2:10081248-10081842	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10080626..10083275-chr2:10089838..10091585,2	K562	blood:
2	chr2:10079779..10081937-chr2:10082992..10085179,2	MCF-7	breast:
3	chr2:10075342..10078182-chr2:10080340..10082783,2	K562	blood:
4	chr2:10058951..10060878-chr2:10081099..10082615,2	K562	blood:

No data

Variant related genes	Relation type
GRHL1	TF binding region
ENSG00000269973	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6432061	1.00[AMR][1000 genomes]
rs73163617	1.00[AMR][1000 genomes]
rs73163638	1.00[AMR][1000 genomes]
rs73163643	1.00[AMR][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	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10055000-10081800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:10073400-10081800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:10073400-10084400	Weak transcription	Lung	lung
4	chr2:10073600-10088800	Weak transcription	Spleen	Spleen
5	chr2:10073800-10082000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:10074000-10081800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:10074200-10081800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:10075600-10082400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:10079200-10082400	Enhancers	Fetal Lung	lung
10	chr2:10079600-10082200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:10079800-10082000	Enhancers	Stomach Mucosa	stomach
12	chr2:10079800-10082600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:10079800-10082600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:10080000-10081800	Weak transcription	K562	blood
15	chr2:10080000-10082200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:10080200-10082600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:10080400-10081800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:10080600-10081800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:10080600-10082400	Enhancers	Gastric	stomach
20	chr2:10080600-10082600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:10080800-10081800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:10080800-10081800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:10080800-10082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:10080800-10082000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:10080800-10082000	Enhancers	HMEC	breast
26	chr2:10080800-10082000	Enhancers	NHLF	lung
27	chr2:10080800-10082200	Enhancers	NHDF-Ad	bronchial
28	chr2:10080800-10082400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:10080800-10082600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr2:10080800-10082600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:10080800-10082600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:10080800-10082600	Enhancers	NHEK	skin
33	chr2:10080800-10082800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:10081000-10082400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:10081000-10082400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:10081000-10082400	Enhancers	HSMM	muscle
37	chr2:10081200-10081800	Enhancers	GM12878-XiMat	blood
38	chr2:10081200-10081800	Flanking Active TSS	Osteobl	bone
39	chr2:10081200-10082000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:10081200-10082000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:10081200-10082000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:10081200-10082200	Weak transcription	Esophagus	oesophagus
43	chr2:10081200-10084400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:10081200-10085000	Weak transcription	Pancreas	Pancrea
45	chr2:10081400-10081800	Enhancers	Fetal Intestine Small	intestine
46	chr2:10081400-10081800	Enhancers	A549	lung
47	chr2:10081400-10082000	Enhancers	HSMMtube	muscle
48	chr2:10081400-10082600	Flanking Active TSS	HepG2	liver
49	chr2:10081400-10084400	Weak transcription	Hela-S3	cervix
50	chr2:10081600-10081800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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