Variant report

Variant	rs11061166
Chromosome Location	chr12:123469907-123469908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123469593-123470171	ProgFib	skin:	n/a	n/a
2	POLR2A	chr12:123469669-123470115	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:123469809-123470232	MCF-7	breast:	n/a	n/a
4	POLR2A	chr12:123469184-123470163	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:123467481-123470043	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr12:123462020-123470019	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr12:123466333-123470624	K562	blood:	n/a	n/a
8	POLR2A	chr12:123468580-123470167	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr12:123468420-123470561	GM12878	blood:	n/a	n/a
10	ZNF384	chr12:123469396-123469931	K562	blood:	n/a	n/a
11	POLR2A	chr12:123469769-123470080	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:123469897-123470073	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:123469118-123469934	GM12891	blood:	n/a	n/a
14	MAX	chr12:123469724-123469927	K562	blood:	n/a	n/a
15	POLR2A	chr12:123469776-123469935	A549	lung:	n/a	n/a
16	POLR2A	chr12:123469479-123470027	HCT-116	colon:	n/a	n/a
17	POLR2A	chr12:123463863-123469964	PFSK-1	brain:	n/a	n/a
18	NFATC1	chr12:123469716-123470231	GM12878	blood:	n/a	n/a
19	MAX	chr12:123468513-123470083	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:123468021-123470507	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:123466981-123470521	GM12878	blood:	n/a	n/a
22	EGR1	chr12:123469605-123469940	K562	blood:	n/a	chr12:123469829-123469843 chr12:123469802-123469816
23	EGR1	chr12:123469623-123469947	K562	blood:	n/a	chr12:123469829-123469843 chr12:123469802-123469816
24	POLR2A	chr12:123469653-123470094	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr12:123468458-123470269	GM12891	blood:	n/a	n/a
26	TEAD4	chr12:123469600-123469948	K562	blood:	n/a	n/a
27	RCOR1	chr12:123469614-123469932	K562	blood:	n/a	n/a
28	MTA3	chr12:123468984-123470384	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:123467406-123470505	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:123469118-123470607	ECC-1	luminal epithelium:	n/a	n/a
31	HMGN3	chr12:123469735-123469926	K562	blood:	n/a	n/a
32	ELF1	chr12:123469756-123469925	K562	blood:	n/a	chr12:123469832-123469845
33	POLR2A	chr12:123469762-123470037	A549	lung:	n/a	n/a
34	POLR2A	chr12:123461706-123470094	K562	blood:	n/a	n/a
35	POLR2A	chr12:123468469-123470039	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:123466890-123470357	K562	blood:	n/a	n/a
37	POLR2A	chr12:123462647-123470505	Hela-S3	cervix:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123469090..123471551-chr12:123505815..123507895,2	MCF-7	breast:
2	chr12:123467975..123470307-chr12:123638971..123640597,2	MCF-7	breast:
3	chr12:123468264..123470538-chr12:123712723..123715235,2	MCF-7	breast:
4	chr12:123467378..123471463-chr12:123484194..123486166,3	MCF-7	breast:
5	chr12:123467906..123470215-chr12:123495247..123497244,2	K562	blood:
6	chr12:123468471..123472230-chr12:123634537..123637693,4	K562	blood:
7	chr12:123469032..123471248-chr12:123684974..123687831,2	K562	blood:
8	chr12:123468080..123470439-chr12:123573373..123575937,2	K562	blood:
9	chr12:123469171..123471248-chr12:123684974..123686845,2	K562	blood:
10	chr12:123467368..123470978-chr12:123525099..123527744,3	K562	blood:
11	chr12:123356737..123358240-chr12:123467000..123469929,2	MCF-7	breast:

No data

Variant related genes	Relation type
ABCB9	TF binding region
ENSG00000051825	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000265526	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10219462	0.87[ASN][1000 genomes]
rs10846468	1.00[ASN][1000 genomes]
rs10846469	1.00[ASN][1000 genomes]
rs10846473	1.00[ASN][1000 genomes]
rs10848148	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10848291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10848363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848429	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11057172	1.00[ASN][1000 genomes]
rs11057180	0.87[ASN][1000 genomes]
rs11060888	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11060932	0.87[ASN][1000 genomes]
rs11060997	0.87[ASN][1000 genomes]
rs11060999	0.87[ASN][1000 genomes]
rs11061589	0.91[AMR][1000 genomes]
rs11061601	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061611	1.00[ASN][1000 genomes]
rs11061616	1.00[ASN][1000 genomes]
rs12229119	0.87[ASN][1000 genomes]
rs12229884	0.87[ASN][1000 genomes]
rs12298355	1.00[ASN][1000 genomes]
rs12302120	0.87[ASN][1000 genomes]
rs12302334	0.83[AMR][1000 genomes]
rs12306711	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12311043	0.87[ASN][1000 genomes]
rs12311134	1.00[ASN][1000 genomes]
rs12318389	0.87[ASN][1000 genomes]
rs12318594	1.00[ASN][1000 genomes]
rs12366787	1.00[ASN][1000 genomes]
rs57310784	0.87[ASN][1000 genomes]
rs59002329	0.87[ASN][1000 genomes]
rs73408859	0.87[ASN][1000 genomes]
rs73408862	0.87[ASN][1000 genomes]
rs73408863	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv899578	chr12:123459005-123474529	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv560493	chr12:123467325-123479623	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123461400-123473200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:123466400-123470200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:123466400-123473400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:123466600-123470000	Genic enhancers	Lung	lung
5	chr12:123466600-123470000	Enhancers	Right Atrium	heart
6	chr12:123466600-123470600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:123466600-123471400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:123466600-123483400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:123466800-123470000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:123466800-123470200	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr12:123466800-123470400	Genic enhancers	Fetal Stomach	stomach
12	chr12:123466800-123471000	Genic enhancers	Liver	Liver
13	chr12:123466800-123472000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:123466800-123472400	Genic enhancers	Spleen	Spleen
15	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
16	chr12:123467000-123470200	Enhancers	Brain Angular Gyrus	brain
17	chr12:123467000-123470200	Genic enhancers	Fetal Muscle Leg	muscle
18	chr12:123467000-123470400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:123467000-123474000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:123467200-123470000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:123467200-123470200	Genic enhancers	Fetal Thymus	thymus
22	chr12:123467200-123470200	Genic enhancers	NHLF	lung
23	chr12:123467400-123470000	Genic enhancers	Fetal Intestine Small	intestine
24	chr12:123467400-123472000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
26	chr12:123468000-123470000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:123468000-123470200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr12:123468000-123470200	Enhancers	Stomach Mucosa	stomach
29	chr12:123468000-123470400	Enhancers	Brain Substantia Nigra	brain
30	chr12:123468000-123470400	Enhancers	Fetal Lung	lung
31	chr12:123468000-123486200	Strong transcription	Fetal Brain Female	brain
32	chr12:123468200-123470000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:123468200-123470000	Enhancers	HSMM	muscle
34	chr12:123468200-123470000	Weak transcription	NHEK	skin
35	chr12:123468200-123470600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:123468200-123470800	Weak transcription	Dnd41	blood
37	chr12:123468200-123471400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:123468200-123471800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:123468200-123476800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:123468200-123477800	Strong transcription	Brain Germinal Matrix	brain
41	chr12:123468400-123470000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:123468400-123470000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr12:123468600-123470200	Enhancers	Ovary	ovary
44	chr12:123468600-123471600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:123468800-123470200	Enhancers	Primary hematopoietic stem cells	blood
46	chr12:123468800-123471000	Strong transcription	Thymus	Thymus
47	chr12:123468800-123471400	Weak transcription	Primary B cells from cord blood	blood
48	chr12:123468800-123477000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:123468800-123485200	Weak transcription	Aorta	Aorta
50	chr12:123469000-123470200	Enhancers	Pancreas	Pancrea

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