Variant report

Variant	rs74052399
Chromosome Location	chr11:9112572-9112573
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	GABPA	chr11:9112541-9112930	H1-hESC	embryonic stem cell:	n/a	chr11:9112848-9112857
2	E2F6	chr11:9112327-9112838	H1-hESC	embryonic stem cell:	n/a	chr11:9112594-9112608 chr11:9112703-9112715
3	MAX	chr11:9112429-9112884	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr11:9112411-9113099	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr11:9112428-9112704	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr11:9112438-9112898	H1-hESC	embryonic stem cell:	n/a	chr11:9112594-9112608 chr11:9112703-9112715
7	ZBTB7A	chr11:9112543-9113924	ECC-1	luminal epithelium:	n/a	chr11:9113313-9113322

No.	Distal block	Cell Line	Cell type
1	chr11:9110779..9112949-chr14:50359771..50361759,2	MCF-7	breast:
2	chr11:9108004..9116385-chr11:9156452..9162678,21	MCF-7	breast:
3	chr11:9109700..9116224-chr11:9155740..9163743,14	MCF-7	breast:
4	chr11:9109535..9113708-chr11:9115640..9120311,8	MCF-7	breast:

Variant related genes	Relation type
KRT8P41	TF binding region
MIR5691	TF binding region
ENSG00000175356	Chromatin interaction
ENSG00000165527	Chromatin interaction
ENSG00000213538	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv467704	chr11:9059192-9125301	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv553454	chr11:9059192-9125301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv467706	chr11:9077652-9114999	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv553455	chr11:9077652-9114999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	esv3404280	chr11:9111401-9114249	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
9	esv3451461	chr11:9112126-9114374	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9110800-9112600	Enhancers	Lung	lung
2	chr11:9110800-9112600	Enhancers	Spleen	Spleen
3	chr11:9111400-9113400	Weak transcription	HSMMtube	muscle
4	chr11:9111400-9113800	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr11:9111600-9113400	Active TSS	Rectal Smooth Muscle	rectum
6	chr11:9112000-9112600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:9112000-9112800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr11:9112000-9112800	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr11:9112000-9113000	Bivalent Enhancer	Fetal Brain Male	brain
10	chr11:9112200-9112600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:9112200-9112600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:9112200-9112600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr11:9112200-9112600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
14	chr11:9112200-9112600	Flanking Active TSS	Fetal Lung	lung
15	chr11:9112200-9112600	Bivalent Enhancer	Placenta	Placenta
16	chr11:9112200-9112600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
17	chr11:9112200-9112600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
18	chr11:9112200-9112600	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr11:9112200-9112800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr11:9112200-9112800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr11:9112200-9112800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:9112200-9112800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr11:9112200-9112800	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr11:9112200-9112800	Enhancers	Fetal Heart	heart
25	chr11:9112200-9112800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr11:9112200-9113200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:9112200-9113400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:9112200-9113400	Active TSS	Brain Angular Gyrus	brain
29	chr11:9112200-9113400	Active TSS	Colon Smooth Muscle	Colon
30	chr11:9112200-9113600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:9112200-9113600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:9112200-9113600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr11:9112200-9113600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr11:9112200-9113600	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr11:9112200-9113800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr11:9112200-9113800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr11:9112200-9113800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:9112400-9112600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:9112400-9112600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:9112400-9112600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:9112400-9112600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:9112400-9112600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:9112400-9112600	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr11:9112400-9112600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:9112400-9112600	Active TSS	Colonic Mucosa	Colon
46	chr11:9112400-9112600	Bivalent/Poised TSS	Esophagus	oesophagus
47	chr11:9112400-9112600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr11:9112400-9112600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr11:9112400-9112600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
50	chr11:9112400-9112600	Active TSS	Ovary	ovary

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