Variant report

Variant	rs531943594
Chromosome Location	chr11:47376495-47376496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:47376355-47377350	IMR90	lung:	n/a	chr11:47377117-47377127
2	CTCF	chr11:47376309-47377682	A549	lung:	n/a	n/a
3	HCFC1	chr11:47375283-47378502	Hela-S3	cervix:	n/a	n/a
4	FOXA1	chr11:47376073-47376556	HepG2	liver:	n/a	n/a
5	CTCF	chr11:47376058-47377990	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:47374127-47379189	HL-60	blood:	n/a	n/a
7	POLR2A	chr11:47375214-47379216	HL-60	blood:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47366884..47369322-chr11:47374735..47376976,2	K562	blood:
2	chr11:47198044..47199863-chr11:47376430..47377442,22	MCF-7	breast:
3	chr11:47174382..47175264-chr11:47376452..47377398,3	K562	blood:
4	chr11:47292062..47293120-chr11:47376381..47377320,5	MCF-7	breast:
5	chr11:47181895..47183396-chr11:47375701..47377914,2	K562	blood:
6	chr11:47375459..47378280-chr11:47382815..47386328,3	K562	blood:
7	chr11:47351825..47352364-chr11:47376428..47377047,2	MCF-7	breast:
8	chr11:47174410..47175370-chr11:47376484..47377024,2	MCF-7	breast:
9	chr11:47375322..47377649-chr11:47398628..47401440,2	K562	blood:
10	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
11	chr11:47281216..47281858-chr11:47376450..47377036,2	MCF-7	breast:
12	chr11:47196513..47199902-chr11:47376301..47378521,3	K562	blood:
13	chr11:47207118..47209265-chr11:47376367..47377900,2	K562	blood:
14	chr11:47376430..47376950-chr11:47395548..47396053,2	MCF-7	breast:
15	chr11:47182168..47183177-chr11:47376486..47377401,4	MCF-7	breast:
16	chr11:47376407..47377483-chr11:47475495..47476359,4	K562	blood:
17	chr11:47374545..47377220-chr11:47429148..47430894,2	K562	blood:
18	chr11:47332627..47333397-chr11:47376473..47377359,2	MCF-7	breast:
19	chr11:47278768..47280166-chr11:47376437..47377439,9	K562	blood:
20	chr11:47368613..47373799-chr11:47374584..47376990,4	MCF-7	breast:
21	chr11:47182519..47183758-chr11:47376283..47377406,7	MCF-7	breast:
22	chr11:47198489..47199561-chr11:47376477..47377464,4	K562	blood:
23	chr11:47201336..47204009-chr11:47374499..47376871,2	MCF-7	breast:
24	chr11:47376479..47377526-chr11:47429514..47430732,6	K562	blood:
25	chr11:47200081..47201308-chr11:47376446..47377426,4	K562	blood:
26	chr11:47376464..47377315-chr11:47421306..47422272,2	K562	blood:

No data

Variant related genes	Relation type
MYBPC3	TF binding region
ENSG00000255197	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv3392657	chr11:47376226-47378724	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3380389	chr11:47376276-47379974	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv3337151	chr11:47376276-47380074	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	esv3439899	chr11:47376276-47381174	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47367800-47377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:47370800-47377000	Weak transcription	K562	blood
3	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:47373000-47376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:47373800-47377000	Weak transcription	Fetal Lung	lung
6	chr11:47373800-47377200	Weak transcription	Gastric	stomach
7	chr11:47374000-47376600	Weak transcription	Ovary	ovary
8	chr11:47374200-47377200	Enhancers	Fetal Heart	heart
9	chr11:47374600-47376600	Weak transcription	Pancreas	Pancrea
10	chr11:47374600-47376800	Weak transcription	Spleen	Spleen
11	chr11:47374800-47376600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:47375400-47379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:47375600-47376600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:47375600-47376600	Enhancers	Left Ventricle	heart
17	chr11:47375600-47377800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:47375600-47379600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
21	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:47375800-47377400	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:47375800-47377600	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:47376000-47376800	Active TSS	Stomach Smooth Muscle	stomach
25	chr11:47376000-47377200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:47376000-47377200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:47376200-47376600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:47376200-47376600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr11:47376200-47376600	Flanking Active TSS	A549	lung
30	chr11:47376200-47376600	Flanking Active TSS	Osteobl	bone
31	chr11:47376200-47376800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:47376200-47376800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:47376200-47376800	Weak transcription	Fetal Kidney	kidney
34	chr11:47376200-47377000	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:47376200-47377200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr11:47376200-47377200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr11:47376200-47377200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr11:47376200-47377200	Active TSS	Fetal Intestine Small	intestine
39	chr11:47376200-47377200	Active TSS	Psoas Muscle	Psoas
40	chr11:47376200-47377400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr11:47376200-47377400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:47376200-47377400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr11:47376200-47377400	Enhancers	Stomach Mucosa	stomach
44	chr11:47376200-47380200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr11:47376400-47376600	Flanking Active TSS	Fetal Stomach	stomach
46	chr11:47376400-47376600	Flanking Active TSS	HepG2	liver
47	chr11:47376400-47376600	Flanking Active TSS	NHEK	skin
48	chr11:47376400-47376800	Enhancers	Fetal Muscle Trunk	muscle
49	chr11:47376400-47377000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:47376400-47377000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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