Variant report

Variant	rs11237198
Chromosome Location	chr11:77182942-77182943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr11:77182763-77183327	ECC-1	luminal epithelium:	n/a	n/a
2	FOXA1	chr11:77182939-77183217	HepG2	liver:	n/a	n/a
3	SRF	chr11:77182679-77183151	ECC-1	luminal epithelium:	n/a	n/a
4	GATA3	chr11:77182789-77183192	T-47D	breast:	n/a	n/a
5	CTCF	chr11:77182900-77183050	HFF-Myc	foreskin:	n/a	n/a
6	CTCF	chr11:77182940-77183090	HepG2	liver:	n/a	n/a
7	MAX	chr11:77182690-77183240	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr11:77182940-77183090	HPAF	blood vessel:	n/a	n/a
9	GATA3	chr11:77182694-77183271	MCF-7	breast:	n/a	n/a
10	SIN3AK20	chr11:77182506-77183418	MCF-7	breast:	n/a	n/a
11	RAD21	chr11:77182591-77183279	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOXA2	chr11:77182914-77183223	HepG2	liver:	n/a	n/a
13	WRNIP1	chr11:77181442-77183205	GM12878	blood:	n/a	n/a
14	CTCF	chr11:77182860-77183010	NHDF-neo	bronchial:	n/a	n/a
15	CEBPB	chr11:77182795-77183270	ECC-1	luminal epithelium:	n/a	n/a
16	CTCF	chr11:77182533-77183120	GM12878	blood:	n/a	n/a
17	CTCF	chr11:77182800-77182950	NHLF	lung:	n/a	n/a
18	RAD21	chr11:77182536-77182983	SK-N-SH_RA	brain:	n/a	n/a
19	RAD21	chr11:77182543-77183231	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr11:77182392-77183017	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr11:77182114-77183405	A549	lung:	n/a	n/a
22	RAD21	chr11:77182670-77183006	A549	lung:	n/a	n/a
23	FOXA1	chr11:77182924-77183123	ECC-1	luminal epithelium:	n/a	n/a
24	SMC3	chr11:77182590-77182995	GM12878	blood:	n/a	n/a
25	ZNF217	chr11:77182761-77183222	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:77182383-77183127	SK-N-SH	brain:	n/a	n/a
27	MXI1	chr11:77182469-77183203	GM12878	blood:	n/a	n/a
28	HNF4A	chr11:77182898-77183236	HepG2	liver:	n/a	n/a
29	FOXA1	chr11:77182852-77183171	HepG2	liver:	n/a	n/a
30	FOXA1	chr11:77182797-77183286	HepG2	liver:	n/a	n/a
31	RAD21	chr11:77182492-77183126	HCT-116	colon:	n/a	n/a
32	RAD21	chr11:77182394-77183240	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr11:77182800-77182950	GM12869	blood:	n/a	n/a
34	CEBPB	chr11:77182782-77183273	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:77161236..77163004-chr11:77181635..77184038,2	MCF-7	breast:
2	chr11:77182864..77185465-chr2:149892800..149895583,2	MCF-7	breast:
3	chr11:77172481..77174902-chr11:77181213..77184183,2	MCF-7	breast:
4	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:
5	chr11:77148181..77150043-chr11:77181662..77183504,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268635	TF binding region
ENSG00000149269	Chromatin interaction
ENSG00000150556	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1037452	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10501425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899372	0.86[ASN][1000 genomes]
rs10899373	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10899377	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11237190	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11237200	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11820118	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11828786	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12223138	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12420360	0.83[ASN][1000 genomes]
rs12421190	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1453341	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17135670	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17135689	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2467481	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602460	0.85[ASN][1000 genomes]
rs2602461	0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2602462	0.88[ASN][1000 genomes]
rs2602471	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2602473	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602474	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2602475	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2725829	0.83[ASN][1000 genomes]
rs2725834	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2729749	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2729750	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2729751	0.85[ASN][1000 genomes]
rs2729752	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2729756	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2729757	0.92[ASN][1000 genomes]
rs2729763	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2729775	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2844327	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2844335	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2852381	0.86[ASN][1000 genomes]
rs2852383	0.85[ASN][1000 genomes]
rs2852388	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2852389	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2852390	0.90[ASN][1000 genomes]
rs2853084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2853085	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2853089	0.84[AMR][1000 genomes]
rs2853091	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2853095	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2853098	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2888377	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4092275	0.97[ASN][1000 genomes]
rs4944159	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4944160	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57305199	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57440754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592721	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7105662	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7112264	0.92[ASN][1000 genomes]
rs724369	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs733358	0.81[AMR][1000 genomes]
rs7944289	0.91[ASN][1000 genomes]
rs876319	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs896841	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947809	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs947810	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77173800-77183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:77178400-77183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:77178400-77183400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:77179800-77183600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:77180000-77183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:77180200-77183400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:77180200-77183800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:77180400-77183800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:77181000-77183000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:77181000-77183800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:77181000-77184200	Enhancers	Dnd41	blood
12	chr11:77181200-77183400	Enhancers	Brain Hippocampus Middle	brain
13	chr11:77181200-77183800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:77181200-77184000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:77181400-77183000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr11:77181400-77183000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:77181400-77183400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:77181400-77183400	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:77181400-77183400	Enhancers	Pancreas	Pancrea
20	chr11:77181400-77183800	Enhancers	Primary T cells from cord blood	blood
21	chr11:77181400-77183800	Enhancers	Liver	Liver
22	chr11:77181400-77183800	Enhancers	Thymus	Thymus
23	chr11:77181400-77184000	Enhancers	Brain Substantia Nigra	brain
24	chr11:77181600-77183400	Enhancers	Brain Anterior Caudate	brain
25	chr11:77181800-77183000	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:77181800-77183800	Weak transcription	Right Atrium	heart
27	chr11:77182000-77183200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
28	chr11:77182000-77183400	Enhancers	Fetal Brain Male	brain
29	chr11:77182000-77183400	Enhancers	Fetal Kidney	kidney
30	chr11:77182000-77183800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:77182000-77183800	Enhancers	Gastric	stomach
32	chr11:77182000-77183800	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:77182000-77183800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:77182000-77184000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:77182200-77183200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr11:77182200-77183400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:77182200-77183400	Weak transcription	Brain Angular Gyrus	brain
38	chr11:77182200-77183800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:77182200-77183800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr11:77182200-77183800	Bivalent Enhancer	HepG2	liver
41	chr11:77182200-77184000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:77182400-77183200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr11:77182400-77183200	Enhancers	Placenta	Placenta
44	chr11:77182400-77183200	Enhancers	Ovary	ovary
45	chr11:77182400-77183400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:77182400-77183400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr11:77182400-77183400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:77182400-77183400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:77182400-77183800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:77182400-77184000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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