Variant report

Variant	rs111657969
Chromosome Location	chr12:118502543-118502544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:118502440-118502590	GM12873	blood:	n/a	n/a
2	CTCF	chr12:118502452-118502561	GM10248	blood:	n/a	n/a
3	CTCF	chr12:118502440-118502590	NHEK	skin:	n/a	n/a
4	RCOR1	chr12:118502161-118502625	K562	blood:	n/a	n/a
5	POLR2A	chr12:118502499-118502550	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:118502508-118502599	GM20000	blood:	n/a	n/a
7	CTCF	chr12:118502484-118502547	Gliobla	brain:	n/a	n/a
8	CTCF	chr12:118502460-118502610	HEK293	kidney:	n/a	n/a
9	CTCF	chr12:118502440-118502590	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr12:118502458-118502550	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr12:118502400-118502550	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr12:118502420-118502570	A549	lung:	n/a	n/a
13	CTCF	chr12:118502481-118502569	MCF-7	breast:	n/a	n/a
14	POLR2A	chr12:118502514-118502749	K562	blood:	n/a	n/a
15	CTCF	chr12:118502460-118502610	GM12868	blood:	n/a	n/a
16	CTCF	chr12:118502460-118502610	HCPEpiC	choroid plexus:	n/a	n/a
17	KAP1	chr12:118501486-118502695	HEK293	kidney:	n/a	n/a
18	CTCF	chr12:118502466-118502573	GM19239	blood:	n/a	n/a
19	CTCF	chr12:118502400-118502550	K562	blood:	n/a	n/a
20	CBX3	chr12:118502259-118502677	K562	blood:	n/a	n/a
21	CTCF	chr12:118502427-118502595	GM10266	blood:	n/a	n/a
22	RAD21	chr12:118502365-118502575	HepG2	liver:	n/a	n/a
23	CTCF	chr12:118502400-118502550	HCT-116	colon:	n/a	n/a
24	CTCF	chr12:118502480-118502630	BE2_C	brain:	n/a	n/a
25	CTCF	chr12:118502440-118502590	HCFaa	heart:	n/a	n/a
26	CTCF	chr12:118502460-118502610	GM12872	blood:	n/a	n/a
27	CTCF	chr12:118502404-118502651	K562	blood:	n/a	n/a
28	CTCF	chr12:118502460-118502610	HepG2	liver:	n/a	n/a
29	CTCF	chr12:118502480-118502630	HCT-116	colon:	n/a	n/a
30	CTCF	chr12:118502415-118502577	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:118502257-118503647	PANC-1	pancreas:	n/a	n/a
32	CTCF	chr12:118502420-118502570	GM12872	blood:	n/a	n/a
33	CTCF	chr12:118502420-118502570	AG09309	skin:	n/a	n/a
34	JUND	chr12:118501278-118502689	K562	blood:	n/a	n/a
35	POLR2A	chr12:118502439-118502573	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr12:118502420-118502570	GM12801	blood:	n/a	n/a
37	CTCF	chr12:118502400-118502550	Caco-2	colon:	n/a	n/a
38	CTCF	chr12:118502420-118502570	GM12875	blood:	n/a	n/a
39	CTCF	chr12:118502460-118502610	GM12871	blood:	n/a	n/a
40	CTCF	chr12:118502436-118502554	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr12:118502447-118502614	GM19238	blood:	n/a	n/a
42	SMC3	chr12:118502374-118502593	HepG2	liver:	n/a	n/a
43	CTCF	chr12:118502440-118502590	GM12878	blood:	n/a	n/a
44	CTCF	chr12:118502327-118502665	K562	blood:	n/a	n/a
45	CTCF	chr12:118502420-118502570	GM12868	blood:	n/a	n/a
46	CTCF	chr12:118502440-118502590	GM12875	blood:	n/a	n/a
47	RAD21	chr12:118502391-118502582	SK-N-SH_RA	brain:	n/a	n/a
48	POLR2A	chr12:118502508-118502638	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr12:118502454-118502582	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr12:118502421-118502575	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:118500782..118503248-chr12:118527475..118529536,2	K562	blood:
2	chr12:118497611..118502023-chr12:118502151..118506801,7	MCF-7	breast:
3	chr12:118321239..118322907-chr12:118502124..118504651,2	MCF-7	breast:
4	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
5	chr12:118497809..118500285-chr12:118500321..118504066,7	MCF-7	breast:
6	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:

No data

Variant related genes	Relation type
WSB2	TF binding region
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	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
3	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118500400-118507800	Weak transcription	Lung	lung
2	chr12:118500400-118515400	Weak transcription	Gastric	stomach
3	chr12:118500400-118516800	Weak transcription	Spleen	Spleen
4	chr12:118500600-118503200	Enhancers	Stomach Mucosa	stomach
5	chr12:118500600-118504000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:118500600-118535200	Weak transcription	Brain Substantia Nigra	brain
7	chr12:118500800-118502600	Enhancers	Liver	Liver
8	chr12:118500800-118502600	Enhancers	Placenta	Placenta
9	chr12:118500800-118502800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:118500800-118502800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:118500800-118502800	Enhancers	Adipose Nuclei	Adipose
12	chr12:118500800-118503600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:118500800-118503800	Enhancers	Primary B cells from cord blood	blood
14	chr12:118500800-118503800	Weak transcription	HSMM	muscle
15	chr12:118500800-118504000	Enhancers	Dnd41	blood
16	chr12:118500800-118511000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:118500800-118515400	Weak transcription	Esophagus	oesophagus
18	chr12:118500800-118518200	Weak transcription	Left Ventricle	heart
19	chr12:118500800-118526400	Weak transcription	HMEC	breast
20	chr12:118500800-118539600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:118500800-118539800	Weak transcription	Right Ventricle	heart
22	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:118501000-118502600	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:118501000-118502600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:118501000-118503800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:118501000-118503800	Enhancers	K562	blood
27	chr12:118501000-118504200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:118501000-118508600	Weak transcription	NHDF-Ad	bronchial
29	chr12:118501000-118514400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:118501000-118515000	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:118501000-118515200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:118501000-118515400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:118501000-118515400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:118501000-118516400	Weak transcription	Colonic Mucosa	Colon
35	chr12:118501000-118517200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:118501000-118525600	Weak transcription	Fetal Brain Female	brain
37	chr12:118501000-118527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:118501000-118530600	Weak transcription	Brain Angular Gyrus	brain
39	chr12:118501000-118533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:118501000-118539600	Weak transcription	Psoas Muscle	Psoas
41	chr12:118501000-118540200	Weak transcription	HUVEC	blood vessel
42	chr12:118501000-118540800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:118501000-118540800	Weak transcription	NH-A	brain
44	chr12:118501200-118502600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:118501200-118502600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:118501200-118502600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr12:118501200-118503200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:118501200-118503200	Enhancers	Fetal Intestine Small	intestine
49	chr12:118501200-118503800	Enhancers	Fetal Intestine Large	intestine
50	chr12:118501200-118506200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links