Variant report

Variant	rs61761163
Chromosome Location	chr3:154800618-154800619
allele	A/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	POLR2A	chr3:154800235-154800836	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr3:154800540-154800690	HRPEpiC	eye:	n/a	n/a
3	POLR2A	chr3:154795817-154801378	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MME	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10513467	0.87[ASN][1000 genomes]
rs11921762	1.00[AMR][1000 genomes]
rs11923608	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11925973	1.00[AMR][1000 genomes]
rs11927135	1.00[AMR][1000 genomes]
rs16824527	0.87[ASN][1000 genomes]
rs35848304	0.87[ASN][1000 genomes]
rs3773906	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4414805	0.87[ASN][1000 genomes]
rs55657903	1.00[AMR][1000 genomes]
rs55954373	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56072333	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57022891	0.87[ASN][1000 genomes]
rs57231033	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58007166	0.86[EUR][1000 genomes]
rs58120007	0.87[ASN][1000 genomes]
rs58662380	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60197267	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60339637	0.86[EUR][1000 genomes]
rs60351120	0.87[ASN][1000 genomes]
rs60948062	0.87[ASN][1000 genomes]
rs60995161	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61064256	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61281054	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61489236	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6770028	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6793490	0.86[EUR][1000 genomes]
rs6799870	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73874449	0.87[ASN][1000 genomes]
rs73874454	0.87[ASN][1000 genomes]
rs73874461	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73874463	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73874467	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73874471	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73874473	0.87[ASN][1000 genomes]
rs73874476	0.87[ASN][1000 genomes]
rs73874478	0.87[ASN][1000 genomes]
rs73874479	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73874486	0.87[ASN][1000 genomes]
rs73874488	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73874489	0.87[ASN][1000 genomes]
rs73874491	0.86[EUR][1000 genomes]
rs73874493	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73874497	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7632185	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7643334	0.87[ASN][1000 genomes]
rs7652075	1.00[AMR][1000 genomes]
rs9917790	1.00[AMR][1000 genomes]
rs9917791	0.87[ASN][1000 genomes]
rs9917802	0.87[ASN][1000 genomes]

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	nsv868930	chr3:154076125-154820242	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1000140	chr3:154336261-154905740	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534289	chr3:154535584-154987166	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv532663	chr3:154561578-154960353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv963491	chr3:154795648-154803797	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv965224	chr3:154798636-154801821	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:154796000-154802200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:154796600-154802000	Active TSS	Duodenum Mucosa	Duodenum
3	chr3:154796800-154801200	Active TSS	Fetal Kidney	kidney
4	chr3:154797200-154801000	Active TSS	Fetal Intestine Small	intestine
5	chr3:154798200-154808600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:154798200-154812600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:154798600-154803800	Weak transcription	Right Atrium	heart
8	chr3:154798800-154801200	Active TSS	Fetal Intestine Large	intestine
9	chr3:154798800-154801800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:154798800-154807200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:154798800-154818800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:154799000-154801200	Enhancers	Liver	Liver
13	chr3:154799000-154802400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:154799000-154805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:154799000-154818600	Weak transcription	Placenta	Placenta
16	chr3:154799000-154818600	Weak transcription	HSMMtube	muscle
17	chr3:154799000-154819400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:154799200-154800800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:154799200-154803800	Weak transcription	Osteobl	bone
20	chr3:154799400-154801400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:154799400-154801400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
22	chr3:154799600-154801000	Weak transcription	HMEC	breast
23	chr3:154799600-154802000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:154799800-154802800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:154800000-154800800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:154800000-154801400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr3:154800000-154808600	Weak transcription	Brain Anterior Caudate	brain
28	chr3:154800000-154810600	Weak transcription	Fetal Thymus	thymus
29	chr3:154800000-154819400	Weak transcription	NHLF	lung
30	chr3:154800200-154800800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:154800200-154802400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:154800200-154802600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:154800200-154804400	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr3:154800200-154807200	Weak transcription	Psoas Muscle	Psoas
35	chr3:154800200-154811000	Weak transcription	Primary B cells from cord blood	blood
36	chr3:154800200-154824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:154800400-154805400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:154800400-154810600	Weak transcription	Thymus	Thymus
39	chr3:154800400-154812400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:154800400-154819000	Weak transcription	Adipose Nuclei	Adipose
41	chr3:154800400-154820400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:154800400-154826800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr3:154800600-154800800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr3:154800600-154800800	Enhancers	HSMM	muscle
45	chr3:154800600-154801200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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