Variant report

Variant	rs538953023
Chromosome Location	chr11:47379055-47379056
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	MYC	chr11:47378741-47379067	H1-hESC	embryonic stem cell:	n/a	n/a
2	STAT5A	chr11:47377591-47379127	K562	blood:	n/a	chr11:47377638-47377646
3	POLR2A	chr11:47378277-47379059	GM12878	blood:	n/a	n/a
4	NFATC1	chr11:47377170-47379243	GM12878	blood:	n/a	n/a
5	STAT5A	chr11:47376624-47380261	K562	blood:	n/a	chr11:47377638-47377646 chr11:47377196-47377208
6	NFATC1	chr11:47377156-47379234	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:47377106-47379195	GM12892	blood:	n/a	n/a
8	BCL3	chr11:47377142-47379210	GM12878	blood:	n/a	chr11:47377212-47377225
9	POLR2A	chr11:47377122-47379262	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:47377233-47379168	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:47376852-47379239	GM12878	blood:	n/a	n/a
12	STAT5A	chr11:47377226-47379146	GM12878	blood:	n/a	chr11:47377638-47377646
13	POLR2A	chr11:47374127-47379189	HL-60	blood:	n/a	n/a
14	POLR2A	chr11:47378597-47379126	K562	blood:	n/a	n/a
15	POLR2A	chr11:47378227-47379170	K562	blood:	n/a	n/a
16	BCL3	chr11:47377019-47379137	GM12878	blood:	n/a	chr11:47377212-47377225
17	POLR2A	chr11:47378633-47379168	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:47377105-47379138	GM12878	blood:	n/a	n/a
19	STAT5A	chr11:47376783-47380298	GM12878	blood:	n/a	chr11:47377638-47377646 chr11:47377196-47377208
20	PBX3	chr11:47377237-47379073	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:47377075-47379134	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:47375214-47379216	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47377126..47379230-chr11:47428179..47431168,2	MCF-7	breast:
2	chr11:47369216..47372065-chr11:47378496..47380430,2	K562	blood:
3	chr11:47284615..47286154-chr11:47378309..47380151,2	MCF-7	breast:
4	chr11:47290509..47292951-chr11:47377343..47380007,3	MCF-7	breast:
5	chr11:47379032..47381068-chr11:47385092..47386815,2	MCF-7	breast:
6	chr11:47362680..47364496-chr11:47377424..47380369,2	K562	blood:
7	chr11:47376739..47379188-chr11:47381497..47383536,3	MCF-7	breast:
8	chr11:47378071..47380550-chr11:47420446..47422509,2	MCF-7	breast:
9	chr11:47269295..47270881-chr11:47376927..47379206,2	MCF-7	breast:
10	chr11:47376723..47380459-chr11:47382736..47386696,5	K562	blood:

Variant related genes	Relation type
MYBPC3	TF binding region
ENSG00000025434	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000134575	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
8	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
9	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
10	esv3391449	chr11:47377226-47379724	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3440608	chr11:47379026-47381524	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:47375400-47379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:47375600-47379600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
8	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr11:47376200-47380200	Strong transcription	Primary hematopoietic stem cells	blood
10	chr11:47376800-47381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:47377200-47386600	Weak transcription	Right Atrium	heart
12	chr11:47377200-47391400	Weak transcription	Psoas Muscle	Psoas
13	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:47377400-47380400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr11:47377600-47380200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr11:47377600-47380800	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:47377600-47381000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:47377600-47381000	Weak transcription	Placenta	Placenta
19	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
22	chr11:47377800-47379400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:47377800-47379400	Weak transcription	Right Ventricle	heart
24	chr11:47377800-47379800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:47377800-47379800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:47377800-47380200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:47377800-47380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:47377800-47382200	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:47377800-47382600	Weak transcription	Fetal Heart	heart
30	chr11:47377800-47382800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:47378000-47380000	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:47378000-47380200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:47378000-47381400	Weak transcription	Colonic Mucosa	Colon
34	chr11:47378200-47379800	Strong transcription	Brain Anterior Caudate	brain
35	chr11:47378200-47380200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr11:47378400-47379800	Strong transcription	Spleen	Spleen
37	chr11:47378400-47380200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr11:47378400-47381400	Weak transcription	Fetal Intestine Small	intestine
39	chr11:47378600-47381400	Weak transcription	Pancreas	Pancrea
40	chr11:47378600-47382000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:47378800-47379200	Genic enhancers	Gastric	stomach
42	chr11:47378800-47381600	Weak transcription	Fetal Lung	lung
43	chr11:47378800-47381800	Weak transcription	Adipose Nuclei	Adipose
44	chr11:47378800-47393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:47379000-47379400	Weak transcription	Fetal Kidney	kidney
46	chr11:47379000-47379600	Weak transcription	GM12878-XiMat	blood
47	chr11:47379000-47379800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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