Variant report

Variant	rs116769922
Chromosome Location	chr11:73053478-73053479
allele	A/G
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	MYC	chr11:73053391-73053489	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA2	chr11:73053383-73053662	A549	lung:	n/a	n/a
3	MXI1	chr11:73053271-73056008	SK-N-SH	brain:	n/a	n/a
4	FOXA2	chr11:73053351-73053650	A549	lung:	n/a	n/a
5	ZNF263	chr11:73052807-73053986	HEK293-T-REx	kidney:	n/a	chr11:73053924-73053933 chr11:73053401-73053410

No.	Distal block	Cell Line	Cell type
1	chr11:73052088..73053863-chr11:73088723..73090410,2	K562	blood:
2	chr11:73051469..73053504-chr11:73055523..73058425,3	MCF-7	breast:
3	chr11:73051769..73054322-chr11:73072717..73075301,2	MCF-7	breast:
4	chr11:73052756..73055685-chr11:73086112..73090323,4	MCF-7	breast:
5	chr11:73051653..73053765-chr11:73094533..73097113,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF17	TF binding region
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3341893	chr11:73052929-73055477	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73058600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:73046600-73058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:73046600-73075400	Weak transcription	A549	lung
5	chr11:73047000-73053600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:73047000-73053600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:73047000-73054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:73047200-73053600	Weak transcription	NH-A	brain
9	chr11:73047400-73058400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:73049000-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:73049400-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:73050600-73053600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:73051200-73053600	Enhancers	Left Ventricle	heart
14	chr11:73051200-73053800	Strong transcription	HepG2	liver
15	chr11:73051400-73055400	Weak transcription	HMEC	breast
16	chr11:73052000-73054200	Weak transcription	Placenta	Placenta
17	chr11:73052400-73058000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:73052600-73053600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:73052600-73053600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr11:73052600-73054200	Enhancers	Fetal Muscle Trunk	muscle
21	chr11:73052600-73056000	Enhancers	Fetal Heart	heart
22	chr11:73052800-73053600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:73052800-73053600	Weak transcription	Psoas Muscle	Psoas
24	chr11:73052800-73053600	Enhancers	Right Ventricle	heart
25	chr11:73052800-73053800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:73052800-73054800	Enhancers	Liver	Liver
27	chr11:73052800-73056200	Enhancers	Lung	lung
28	chr11:73053000-73053600	Enhancers	Aorta	Aorta
29	chr11:73053000-73053600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr11:73053000-73053600	Enhancers	Right Atrium	heart
31	chr11:73053000-73054200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:73053000-73055000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:73053200-73053600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:73053200-73053600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:73053200-73053800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr11:73053200-73053800	Enhancers	Gastric	stomach
37	chr11:73053200-73054000	Enhancers	HSMM	muscle
38	chr11:73053200-73054200	Genic enhancers	Osteobl	bone
39	chr11:73053200-73056200	Enhancers	NHDF-Ad	bronchial
40	chr11:73053200-73056800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr11:73053400-73053600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
42	chr11:73053400-73053600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:73053400-73053600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:73053400-73053600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr11:73053400-73053600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:73053400-73053600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:73053400-73053600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:73053400-73053600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:73053400-73053600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr11:73053400-73053600	Flanking Active TSS	Fetal Brain Female	brain

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