Variant report

Variant	rs4559761
Chromosome Location	chr12:121147612-121147613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:121147348-121149831	SK-N-SH	brain:	n/a	n/a
2	REST	chr12:121147522-121148784	H1-neurons	neurons:	n/a	chr12:121148146-121148156
3	MXI1	chr12:121147607-121149626	IMR90	lung:	n/a	n/a
4	POLR2A	chr12:121147545-121147696	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
2	chr12:121145921..121147941-chr12:121149529..121151514,2	MCF-7	breast:
3	chr12:121133471..121136112-chr12:121146959..121149468,2	MCF-7	breast:
4	chr12:121136411..121138197-chr12:121145701..121148306,2	K562	blood:
5	chr12:121122969..121126872-chr12:121145365..121151601,10	K562	blood:
6	chr12:121122617..121126013-chr12:121146742..121149972,4	MCF-7	breast:
7	chr12:121123292..121126341-chr12:121146632..121149740,5	MCF-7	breast:

No data

Variant related genes	Relation type
UNC119B	TF binding region
ENSG00000265455	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000256569	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10849778	0.81[CHD][hapmap]
rs10849779	0.94[ASN][1000 genomes]
rs11065208	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11065211	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065212	0.93[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065270	0.85[JPT][hapmap]
rs11065314	0.85[JPT][hapmap]
rs11829037	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11833718	0.85[JPT][hapmap]
rs12296423	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12306138	0.85[JPT][hapmap]
rs1803508	0.97[ASN][1000 genomes]
rs3830155	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55644516	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59358833	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59904018	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61229807	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489783	0.85[JPT][hapmap]
rs6490302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs695950	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7133413	0.85[JPT][hapmap]
rs7135915	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7303170	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307973	0.85[JPT][hapmap]
rs7309538	0.84[JPT][hapmap]
rs7313532	0.85[JPT][hapmap]
rs73409923	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7956685	0.89[EUR][1000 genomes]
rs7958698	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7960336	0.85[JPT][hapmap]
rs7964228	0.90[ASN][1000 genomes]
rs7972583	0.96[ASN][1000 genomes]
rs7972912	0.85[JPT][hapmap]
rs7973907	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs949443	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121136600-121147800	Weak transcription	NHDF-Ad	bronchial
2	chr12:121138800-121147800	Weak transcription	Small Intestine	intestine
3	chr12:121139400-121147800	Weak transcription	Esophagus	oesophagus
4	chr12:121139400-121147800	Weak transcription	Psoas Muscle	Psoas
5	chr12:121140200-121147800	Weak transcription	HUVEC	blood vessel
6	chr12:121140800-121147800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:121141800-121147800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:121141800-121147800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:121141800-121147800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:121141800-121147800	Weak transcription	Aorta	Aorta
11	chr12:121142400-121147800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:121143600-121147800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:121143800-121147800	Weak transcription	HSMM	muscle
14	chr12:121144200-121147800	Weak transcription	Gastric	stomach
15	chr12:121146800-121147800	Enhancers	Fetal Lung	lung
16	chr12:121146800-121147800	Enhancers	HSMMtube	muscle
17	chr12:121147200-121147800	Enhancers	Fetal Intestine Small	intestine
18	chr12:121147400-121147800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:121147400-121147800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:121147400-121147800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr12:121147400-121147800	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:121147400-121147800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:121147400-121147800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:121147400-121147800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:121147400-121147800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:121147400-121147800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:121147400-121147800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:121147400-121147800	Enhancers	Fetal Brain Male	brain
29	chr12:121147400-121147800	Enhancers	Fetal Heart	heart
30	chr12:121147400-121147800	Enhancers	Fetal Intestine Large	intestine
31	chr12:121147400-121147800	Enhancers	Fetal Kidney	kidney
32	chr12:121147400-121147800	Enhancers	Fetal Muscle Leg	muscle
33	chr12:121147400-121147800	Enhancers	Fetal Stomach	stomach
34	chr12:121147400-121147800	Enhancers	Fetal Thymus	thymus
35	chr12:121147400-121147800	Enhancers	Ovary	ovary
36	chr12:121147400-121147800	Enhancers	Pancreas	Pancrea
37	chr12:121147400-121147800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr12:121147400-121147800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr12:121147400-121147800	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:121147400-121147800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:121147400-121147800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr12:121147400-121147800	Enhancers	K562	blood
43	chr12:121147400-121148000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:121147400-121148000	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr12:121147400-121148200	Flanking Active TSS	Dnd41	blood
46	chr12:121147600-121147800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:121147600-121147800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
48	chr12:121147600-121147800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:121147600-121147800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:121147600-121147800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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