Variant report

Variant	rs11068930
Chromosome Location	chr12:118815111-118815112
allele	C/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	CTCF	chr12:118815080-118815230	GM12872	blood:	n/a	n/a
2	MAX	chr12:118813962-118815119	K562	blood:	n/a	n/a
3	MXI1	chr12:118813805-118816254	IMR90	lung:	n/a	chr12:118814375-118814390
4	CTCF	chr12:118814704-118816448	A549	lung:	n/a	chr12:118815883-118815896 chr12:118815880-118815898 chr12:118815882-118815903 chr12:118815881-118815897 chr12:118815883-118815896 chr12:118815885-118815895
5	EP300	chr12:118815073-118816027	K562	blood:	n/a	chr12:118815503-118815517
6	CTCF	chr12:118815006-118815236	K562	blood:	n/a	n/a
7	ZBTB7A	chr12:118814506-118815162	ECC-1	luminal epithelium:	n/a	chr12:118814978-118814985
8	MAX	chr12:118815032-118815290	GM12878	blood:	n/a	n/a
9	CTCF	chr12:118813637-118816237	SK-N-SH	brain:	n/a	chr12:118815883-118815896 chr12:118814059-118814072 chr12:118815880-118815898 chr12:118815882-118815903 chr12:118814059-118814072 chr12:118814058-118814074 chr12:118815881-118815897 chr12:118815883-118815896 chr12:118815885-118815895
10	HCFC1	chr12:118813163-118815293	Hela-S3	cervix:	n/a	n/a
11	JUND	chr12:118814938-118815238	K562	blood:	n/a	n/a
12	STAT3	chr12:118815014-118815116	GM12878	blood:	n/a	chr12:118815019-118815031
13	CUX1	chr12:118814893-118815224	K562	blood:	n/a	n/a
14	CTCF	chr12:118815080-118815230	BJ	skin:	n/a	n/a
15	CTCF	chr12:118815080-118815230	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr12:118813894-118815983	GM12878	blood:	n/a	n/a
17	SIN3A	chr12:118813732-118816005	H1-hESC	embryonic stem cell:	n/a	chr12:118814470-118814483
18	POLR2A	chr12:118813958-118815288	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr12:118815080-118815230	GM12873	blood:	n/a	n/a
20	MAZ	chr12:118813603-118815202	IMR90	lung:	n/a	n/a
21	POLR2A	chr12:118814985-118815293	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118706508..118709045-chr12:118814586..118816680,2	MCF-7	breast:
2	chr12:118602460..118604625-chr12:118813262..118815515,3	MCF-7	breast:
3	chr12:118573153..118575288-chr12:118813964..118815499,2	K562	blood:
4	chr12:118796352..118799029-chr12:118814094..118816699,2	K562	blood:
5	chr12:118795944..118799029-chr12:118813367..118816891,5	K562	blood:
6	chr12:118601731..118605413-chr12:118811549..118815749,6	MCF-7	breast:
7	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
8	chr12:118620159..118620747-chr12:118814583..118815397,2	MCF-7	breast:
9	chr12:118572169..118574578-chr12:118813281..118815774,2	MCF-7	breast:
10	chr12:118814110..118815934-chr12:120730037..120732286,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270482	TF binding region
TAOK3	TF binding region
ENSG00000176834	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000221280	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10850968	0.84[ASN][1000 genomes]
rs11068860	1.00[EUR][1000 genomes]
rs11068864	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068865	1.00[EUR][1000 genomes]
rs11068871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068872	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068878	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068880	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068881	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068887	1.00[EUR][1000 genomes]
rs11068888	1.00[EUR][1000 genomes]
rs11068889	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068896	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068901	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068909	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068914	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11068917	0.87[ASN][1000 genomes]
rs11068919	0.90[ASN][1000 genomes]
rs11068920	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068922	0.92[ASN][1000 genomes]
rs11068923	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068924	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068926	0.92[ASN][1000 genomes]
rs11068933	0.91[ASN][1000 genomes]
rs11068937	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068940	1.00[EUR][1000 genomes]
rs11068941	1.00[EUR][1000 genomes]
rs11068943	1.00[EUR][1000 genomes]
rs11068945	1.00[EUR][1000 genomes]
rs12227411	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12227974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12228425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12229607	0.83[ASN][1000 genomes]
rs12230104	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231358	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12231845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17586582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17619702	1.00[EUR][1000 genomes]
rs17619805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17619932	0.86[ASN][1000 genomes]
rs2036314	0.92[ASN][1000 genomes]
rs2062520	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2271007	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3741444	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4442583	0.92[ASN][1000 genomes]
rs61943365	0.85[ASN][1000 genomes]
rs61943369	0.92[ASN][1000 genomes]
rs61943370	0.94[ASN][1000 genomes]
rs61943371	0.94[ASN][1000 genomes]
rs6490177	0.89[ASN][1000 genomes]
rs7132582	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296216	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9888447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118813200-118816000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:118813400-118816400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr12:118813600-118815200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:118813600-118815200	Active TSS	Psoas Muscle	Psoas
5	chr12:118813600-118815400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:118813600-118815600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr12:118813600-118815600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:118813600-118815600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:118813600-118815600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:118813600-118815600	Active TSS	HSMMtube	muscle
11	chr12:118813600-118816200	Active TSS	NHLF	lung
12	chr12:118813800-118815200	Active TSS	Colon Smooth Muscle	Colon
13	chr12:118813800-118815200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:118813800-118815200	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr12:118813800-118815200	Active TSS	K562	blood
16	chr12:118813800-118815400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:118813800-118815400	Active TSS	Left Ventricle	heart
18	chr12:118813800-118815400	Active TSS	HepG2	liver
19	chr12:118813800-118815600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:118813800-118815600	Active TSS	Aorta	Aorta
21	chr12:118813800-118815600	Active TSS	Esophagus	oesophagus
22	chr12:118813800-118815600	Active TSS	Ovary	ovary
23	chr12:118813800-118815600	Active TSS	Right Atrium	heart
24	chr12:118813800-118815600	Active TSS	Right Ventricle	heart
25	chr12:118813800-118815600	Active TSS	NHDF-Ad	bronchial
26	chr12:118813800-118815800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:118813800-118815800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:118813800-118815800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:118813800-118815800	Active TSS	Gastric	stomach
30	chr12:118813800-118815800	Active TSS	Small Intestine	intestine
31	chr12:118813800-118816000	Active TSS	Fetal Kidney	kidney
32	chr12:118814000-118815200	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr12:118814000-118815200	Active TSS	Fetal Intestine Large	intestine
34	chr12:118814000-118815200	Active TSS	Fetal Intestine Small	intestine
35	chr12:118814000-118815200	Active TSS	Stomach Mucosa	stomach
36	chr12:118814000-118815400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:118814000-118815400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:118814000-118815400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:118814000-118815400	Active TSS	Muscle Satellite Cultured Cells	--
40	chr12:118814000-118815400	Active TSS	Fetal Lung	lung
41	chr12:118814000-118815400	Active TSS	Placenta Amnion	Placenta Amnion
42	chr12:118814000-118815400	Active TSS	A549	lung
43	chr12:118814000-118815400	Active TSS	GM12878-XiMat	blood
44	chr12:118814000-118815600	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:118814000-118815600	Active TSS	Lung	lung
46	chr12:118814000-118815600	Active TSS	Pancreas	Pancrea
47	chr12:118814000-118815600	Active TSS	HSMM	muscle
48	chr12:118814000-118815800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:118814000-118815800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:118814000-118815800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links