Variant report

Variant	rs12271302
Chromosome Location	chr11:74176625-74176626
allele	A/C
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	TCF7L2	chr11:74176346-74177036	MCF-7	breast:	n/a	chr11:74176696-74176710
2	EP300	chr11:74176346-74176784	HepG2	liver:	n/a	n/a
3	NR2F2	chr11:74176257-74176885	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:74172545-74179851	SK-N-MC	brain:	n/a	n/a
5	FOXA2	chr11:74176445-74176832	A549	lung:	n/a	n/a
6	TCF7L2	chr11:74176477-74176893	HCT-116	colon:	n/a	chr11:74176696-74176710
7	FOXA1	chr11:74176415-74176869	HepG2	liver:	n/a	n/a
8	MAZ	chr11:74176444-74176830	K562	blood:	n/a	n/a
9	TEAD4	chr11:74176245-74176870	HepG2	liver:	n/a	n/a
10	EGR1	chr11:74176494-74176722	K562	blood:	n/a	chr11:74176622-74176637
11	JUND	chr11:74176364-74176705	HepG2	liver:	n/a	chr11:74176463-74176471 chr11:74176461-74176472 chr11:74176461-74176473
12	FOXA2	chr11:74176379-74176842	A549	lung:	n/a	n/a
13	GATA3	chr11:74176270-74177030	MCF-7	breast:	n/a	n/a
14	FOXA1	chr11:74176417-74176828	HepG2	liver:	n/a	n/a
15	FOXA1	chr11:74176308-74176864	HepG2	liver:	n/a	n/a
16	HDAC2	chr11:74176361-74176789	HepG2	liver:	n/a	n/a
17	HNF4G	chr11:74176435-74176740	HepG2	liver:	n/a	chr11:74176504-74176526
18	NR2F2	chr11:74176301-74176966	MCF-7	breast:	n/a	n/a
19	SIN3AK20	chr11:74176163-74177016	MCF-7	breast:	n/a	n/a
20	EGR1	chr11:74176546-74176699	K562	blood:	n/a	chr11:74176622-74176637
21	SP1	chr11:74176354-74176867	HepG2	liver:	n/a	n/a
22	EP300	chr11:74176310-74176937	HepG2	liver:	n/a	n/a
23	FOXA2	chr11:74176416-74176803	HepG2	liver:	n/a	n/a
24	TCF12	chr11:74176236-74176814	A549	lung:	n/a	n/a
25	GATA3	chr11:74176128-74177191	MCF-7	breast:	n/a	chr11:74177096-74177109 chr11:74177098-74177107
26	EGR1	chr11:74176380-74176867	MCF-7	breast:	n/a	chr11:74176622-74176637
27	FOXA1	chr11:74176378-74176790	HepG2	liver:	n/a	n/a
28	MYC	chr11:74176570-74176688	MCF-7	breast:	n/a	n/a
29	MYC	chr11:74176511-74176762	MCF-7	breast:	n/a	n/a
30	MAZ	chr11:74176325-74176805	HepG2	liver:	n/a	n/a
31	MYBL2	chr11:74176367-74176855	HepG2	liver:	n/a	n/a
32	ZNF217	chr11:74176499-74176786	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74175244..74178880-chr11:74203216..74205739,4	MCF-7	breast:
2	chr11:74175411..74179003-chr11:74201966..74206100,6	MCF-7	breast:
3	chr11:74175366..74177621-chr11:74184353..74186919,2	MCF-7	breast:
4	chr11:74176347..74178704-chr11:74203526..74206053,3	K562	blood:
5	chr11:74175333..74177141-chr11:74189553..74191217,2	K562	blood:
6	chr11:74171659..74173234-chr11:74174907..74176791,2	MCF-7	breast:

Variant related genes	Relation type
KCNE3	TF binding region
ENSG00000254837	Chromatin interaction
ENSG00000175536	Chromatin interaction
ENSG00000077514	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11236111	0.83[AFR][1000 genomes]
rs11236118	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12270975	0.92[AFR][1000 genomes]
rs12273068	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12285733	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12291914	1.00[AFR][1000 genomes]
rs12292862	0.91[YRI][hapmap]
rs12293015	0.91[YRI][hapmap]
rs12295841	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs4944893	0.83[YRI][hapmap]
rs58116543	1.00[AFR][1000 genomes]
rs60716017	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv555443	chr11:74109166-74180489	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1041154	chr11:74114801-74177909	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv393	chr11:74135862-74181417	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS 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	30 gene(s)	inside rSNPs	diseases
10	nsv897913	chr11:74171997-74216705	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74160400-74177800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:74168600-74177600	Weak transcription	Small Intestine	intestine
3	chr11:74171800-74177000	Weak transcription	Fetal Kidney	kidney
4	chr11:74172000-74177200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:74172200-74177400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:74172400-74177800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:74173200-74178000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:74173400-74177000	Weak transcription	Colonic Mucosa	Colon
9	chr11:74173400-74177800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:74173600-74177800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:74173600-74177800	Weak transcription	Right Atrium	heart
12	chr11:74173800-74177800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:74173800-74177800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:74173800-74177800	Weak transcription	Brain Substantia Nigra	brain
15	chr11:74174000-74176800	Weak transcription	Fetal Lung	lung
16	chr11:74174000-74177600	Weak transcription	Ovary	ovary
17	chr11:74174000-74177800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:74174000-74177800	Weak transcription	Placenta	Placenta
19	chr11:74174200-74177600	Weak transcription	Liver	Liver
20	chr11:74174200-74177800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:74174200-74177800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:74174200-74177800	Weak transcription	Spleen	Spleen
23	chr11:74174400-74177600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:74175000-74177800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:74175000-74179600	Enhancers	HepG2	liver
26	chr11:74175200-74177400	Weak transcription	Esophagus	oesophagus
27	chr11:74175400-74177200	Enhancers	Fetal Intestine Large	intestine
28	chr11:74175600-74177000	Enhancers	Gastric	stomach
29	chr11:74175800-74177800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:74176000-74177000	Enhancers	Fetal Intestine Small	intestine
31	chr11:74176000-74177800	Enhancers	Pancreas	Pancrea
32	chr11:74176000-74177800	Enhancers	K562	blood
33	chr11:74176200-74176800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:74176200-74177200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:74176400-74176800	Enhancers	Lung	lung
36	chr11:74176400-74177200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:74176400-74177800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:74176400-74177800	Active TSS	Fetal Stomach	stomach
39	chr11:74176600-74176800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:74176600-74176800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr11:74176600-74176800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr11:74176600-74176800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:74176600-74177000	Flanking Active TSS	Stomach Mucosa	stomach
44	chr11:74176600-74177000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr11:74176600-74177600	Enhancers	Adipose Nuclei	Adipose
46	chr11:74176600-74177800	Enhancers	Brain Hippocampus Middle	brain
47	chr11:74176600-74178000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:74176600-74178800	Active TSS	Duodenum Mucosa	Duodenum
49	chr11:74176600-74179000	Active TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links