Variant report

Variant	rs11615960
Chromosome Location	chr12:116970297-116970298
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	YY1	chr12:116970144-116970701	GM12878	blood:	n/a	chr12:116970370-116970382
2	YY1	chr12:116970215-116970481	GM12892	blood:	n/a	chr12:116970370-116970382
3	YY1	chr12:116970200-116970573	K562	blood:	n/a	chr12:116970370-116970382
4	CTCF	chr12:116970240-116970390	GM06990	blood:	n/a	n/a
5	CTCF	chr12:116970289-116970347	K562	blood:	n/a	n/a
6	CTCF	chr12:116970280-116970430	BE2_C	brain:	n/a	n/a
7	YY1	chr12:116970239-116970596	GM12892	blood:	n/a	chr12:116970370-116970382
8	CTCF	chr12:116970156-116970503	K562	blood:	n/a	n/a
9	CTCF	chr12:116970220-116970370	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr12:116970240-116970390	K562	blood:	n/a	n/a
11	ZNF384	chr12:116970279-116970495	GM12878	blood:	n/a	n/a
12	CTCF	chr12:116970180-116970330	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr12:116970260-116970410	Caco-2	colon:	n/a	n/a
14	YY1	chr12:116970172-116970693	H1-hESC	embryonic stem cell:	n/a	chr12:116970370-116970382
15	CTCF	chr12:116970180-116970330	GM12871	blood:	n/a	n/a
16	YY1	chr12:116970256-116970647	A549	lung:	n/a	chr12:116970370-116970382
17	CTCF	chr12:116970154-116970495	K562	blood:	n/a	n/a
18	CTCF	chr12:116970260-116970410	GM12875	blood:	n/a	n/a
19	CTCF	chr12:116970280-116970430	AG04449	skin:	n/a	n/a
20	CTCF	chr12:116970200-116970350	RPTEC	kidney:	n/a	n/a
21	CTCF	chr12:116970280-116970430	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr12:116970260-116970410	MCF-7	breast:	n/a	n/a
23	YY1	chr12:116970249-116970571	H1-hESC	embryonic stem cell:	n/a	chr12:116970370-116970382
24	ZNF384	chr12:116970133-116970725	K562	blood:	n/a	n/a
25	CTCF	chr12:116970280-116970430	K562	blood:	n/a	n/a
26	CTCF	chr12:116970240-116970390	GM12872	blood:	n/a	n/a
27	CTCF	chr12:116970191-116970569	K562	blood:	n/a	n/a
28	YY1	chr12:116970252-116970472	HCT-116	colon:	n/a	chr12:116970370-116970382
29	CTCF	chr12:116970147-116970553	K562	blood:	n/a	n/a
30	CTCF	chr12:116970280-116970430	GM06990	blood:	n/a	n/a
31	CTCF	chr12:116970271-116970302	MCF-7	breast:	n/a	n/a
32	MAX	chr12:116970227-116972669	A549	lung:	n/a	chr12:116970552-116970561 chr12:116971137-116971147 chr12:116971149-116971158

No.	Distal block	Cell Line	Cell type
1	chr12:116968953..116973759-chr12:116995509..116998903,7	K562	blood:
2	chr12:116931517..116933283-chr12:116967828..116970603,2	K562	blood:
3	chr12:116712747..116717142-chr12:116969029..116973550,6	MCF-7	breast:
4	chr12:116965507..116967746-chr12:116967975..116970470,2	K562	blood:

Variant related genes	Relation type
LINC00173	TF binding region
ENSG00000123066	Chromatin interaction
ENSG00000171471	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10774871	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774872	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10850662	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10850663	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068062	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068070	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068075	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11609040	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11609872	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11610226	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1394801	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1394802	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2047952	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2089222	0.82[ASN][1000 genomes]
rs2102294	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2893685	0.82[ASN][1000 genomes]
rs60521218	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490075	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6490076	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7297552	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7300418	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7304300	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7315385	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954181	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7961538	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7969190	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969566	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972701	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7976256	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116946600-116970400	Weak transcription	Esophagus	oesophagus
2	chr12:116960800-116970600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:116962800-116970800	Weak transcription	Aorta	Aorta
4	chr12:116963800-116970400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:116963800-116970400	Weak transcription	Brain Germinal Matrix	brain
6	chr12:116963800-116970400	Weak transcription	Right Atrium	heart
7	chr12:116963800-116970600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:116963800-116970800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:116963800-116970800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:116964000-116971000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:116964200-116970800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:116964600-116970400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:116966200-116970400	Weak transcription	Fetal Thymus	thymus
14	chr12:116966400-116970600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:116966400-116970600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:116966800-116970400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:116966800-116970400	Weak transcription	Ovary	ovary
18	chr12:116966800-116970600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:116966800-116970600	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:116966800-116970600	Weak transcription	Small Intestine	intestine
21	chr12:116966800-116970800	Weak transcription	HUVEC	blood vessel
22	chr12:116967000-116970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:116967000-116970400	Weak transcription	Psoas Muscle	Psoas
24	chr12:116967000-116970400	Weak transcription	HMEC	breast
25	chr12:116967000-116970800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:116967200-116970400	Weak transcription	Fetal Brain Male	brain
27	chr12:116967200-116970400	Weak transcription	Fetal Intestine Small	intestine
28	chr12:116967200-116970400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:116967200-116970600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:116967200-116970600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:116967200-116970600	Weak transcription	Liver	Liver
32	chr12:116967200-116970600	Weak transcription	Fetal Kidney	kidney
33	chr12:116967200-116970600	Weak transcription	NHLF	lung
34	chr12:116967200-116970600	Weak transcription	Osteobl	bone
35	chr12:116967200-116970800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:116967200-116970800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:116967200-116970800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:116967200-116970800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:116967200-116970800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:116967200-116970800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:116967200-116970800	Weak transcription	NH-A	brain
42	chr12:116967200-116971400	Weak transcription	HSMMtube	muscle
43	chr12:116967400-116970600	Weak transcription	NHEK	skin
44	chr12:116967400-116970800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:116968000-116970400	Weak transcription	Fetal Intestine Large	intestine
46	chr12:116968000-116970400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:116968000-116970600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:116968200-116970400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:116968200-116970600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:116968200-116970800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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