Variant report

Variant	rs549950642
Chromosome Location	chr11:47377360-47377361
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr11:47376683-47377413	ECC-1	luminal epithelium:	n/a	n/a
2	EGR1	chr11:47376818-47377606	ECC-1	luminal epithelium:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
3	NR2C2	chr11:47377334-47379030	Hela-S3	cervix:	n/a	n/a
4	MYC	chr11:47377351-47377409	MCF-7	breast:	n/a	n/a
5	CBX3	chr11:47377333-47377808	K562	blood:	n/a	n/a
6	MAZ	chr11:47376744-47377389	K562	blood:	n/a	chr11:47377117-47377127
7	POU2F2	chr11:47377185-47377775	GM12891	blood:	n/a	n/a
8	POU2F2	chr11:47377227-47378491	GM12891	blood:	n/a	n/a
9	MYC	chr11:47376867-47377553	MCF-7	breast:	n/a	chr11:47377117-47377127
10	CTCF	chr11:47377220-47377669	GM19239	blood:	n/a	n/a
11	POLR2A	chr11:47377284-47377607	GM12891	blood:	n/a	n/a
12	SMC3	chr11:47376646-47378043	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr11:47377259-47378915	K562	blood:	n/a	n/a
14	POLR2A	chr11:47377286-47377379	H1-hESC	embryonic stem cell:	n/a	n/a
15	SUZ12	chr11:47377357-47378869	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr11:47376643-47377880	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr11:47376631-47377384	MCF-7	breast:	n/a	n/a
18	POLR2A	chr11:47376524-47379003	K562	blood:	n/a	n/a
19	HDAC2	chr11:47376685-47377532	MCF-7	breast:	n/a	n/a
20	POLR2A	chr11:47377292-47378065	GM12878	blood:	n/a	n/a
21	NFATC1	chr11:47377170-47379243	GM12878	blood:	n/a	n/a
22	MAX	chr11:47376685-47377942	MCF-7	breast:	n/a	chr11:47377117-47377127
23	POLR2A	chr11:47377324-47378461	GM12891	blood:	n/a	n/a
24	SMARCB1	chr11:47376542-47377583	Hela-S3	cervix:	n/a	n/a
25	MAX	chr11:47376577-47378018	A549	lung:	n/a	chr11:47377117-47377127
26	TCF3	chr11:47377119-47377713	GM12878	blood:	n/a	n/a
27	STAT5A	chr11:47376624-47380261	K562	blood:	n/a	chr11:47377638-47377646 chr11:47377196-47377208
28	NFATC1	chr11:47377156-47379234	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:47377281-47377449	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:47376309-47377682	A549	lung:	n/a	n/a
31	EGR1	chr11:47376806-47377522	K562	blood:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
32	MYC	chr11:47377234-47377682	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:47377106-47379195	GM12892	blood:	n/a	n/a
34	BCL3	chr11:47377142-47379210	GM12878	blood:	n/a	chr11:47377212-47377225
35	POLR2A	chr11:47376752-47377786	K562	blood:	n/a	n/a
36	CTCF	chr11:47377195-47377689	NHEK	skin:	n/a	n/a
37	RAD21	chr11:47376550-47377369	HCT-116	colon:	n/a	n/a
38	HCFC1	chr11:47375283-47378502	Hela-S3	cervix:	n/a	n/a
39	SIN3AK20	chr11:47376668-47377478	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:47377122-47379262	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:47377233-47379168	GM12892	blood:	n/a	n/a
42	MAX	chr11:47376749-47377831	K562	blood:	n/a	chr11:47377117-47377127
43	POLR2A	chr11:47376852-47379239	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:47377269-47378430	GM12891	blood:	n/a	n/a
45	NFIC	chr11:47377266-47377775	GM12878	blood:	n/a	n/a
46	CTCF	chr11:47376617-47377462	HCT-116	colon:	n/a	n/a
47	STAT5A	chr11:47377226-47379146	GM12878	blood:	n/a	chr11:47377638-47377646
48	CTCF	chr11:47376058-47377990	SK-N-SH	brain:	n/a	n/a
49	MAX	chr11:47376628-47377624	ECC-1	luminal epithelium:	n/a	chr11:47377117-47377127
50	POLR2A	chr11:47374127-47379189	HL-60	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47198044..47199863-chr11:47376430..47377442,22	MCF-7	breast:
2	chr11:47377126..47379230-chr11:47428179..47431168,2	MCF-7	breast:
3	chr11:47198719..47199807-chr11:47376539..47377421,5	MCF-7	breast:
4	chr11:47174382..47175264-chr11:47376452..47377398,3	K562	blood:
5	chr11:47181895..47183396-chr11:47375701..47377914,2	K562	blood:
6	chr11:47375459..47378280-chr11:47382815..47386328,3	K562	blood:
7	chr11:47376520..47377472-chr11:47429288..47430230,5	MCF-7	breast:
8	chr11:47290509..47292951-chr11:47377343..47380007,3	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	chr11:47200654..47202025-chr11:47376839..47377503,3	MCF-7	breast:
12	chr11:47376680..47377459-chr11:47395174..47396139,4	K562	blood:
13	chr11:47196513..47199902-chr11:47376301..47378521,3	K562	blood:
14	chr11:47207118..47209265-chr11:47376367..47377900,2	K562	blood:
15	chr11:47182168..47183177-chr11:47376486..47377401,4	MCF-7	breast:
16	chr11:47376407..47377483-chr11:47475495..47476359,4	K562	blood:
17	chr11:47182335..47183369-chr11:47376517..47377453,5	K562	blood:
18	chr11:47278768..47280166-chr11:47376437..47377439,9	K562	blood:
19	chr11:47376825..47377467-chr11:47475964..47476482,2	MCF-7	breast:
20	chr11:47182519..47183758-chr11:47376283..47377406,7	MCF-7	breast:
21	chr11:47198489..47199561-chr11:47376477..47377464,4	K562	blood:
22	chr11:47279574..47280107-chr11:47376721..47377412,2	MCF-7	breast:
23	chr11:47255280..47255866-chr11:47376834..47377535,2	K562	blood:
24	chr11:47376739..47379188-chr11:47381497..47383536,3	MCF-7	breast:
25	chr11:47376852..47377400-chr11:47384721..47385536,2	K562	blood:
26	chr11:47376479..47377526-chr11:47429514..47430732,6	K562	blood:
27	chr11:47200081..47201308-chr11:47376446..47377426,4	K562	blood:
28	chr11:47340547..47341169-chr11:47376503..47377448,2	MCF-7	breast:
29	chr11:47269295..47270881-chr11:47376927..47379206,2	MCF-7	breast:
30	chr11:47376723..47380459-chr11:47382736..47386696,5	K562	blood:

No data

Variant related genes	Relation type
MYBPC3	TF binding region
ENSG00000066336	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000025434	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	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
11	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

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	chr11:47375600-47377800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:47375600-47379600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
9	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:47375800-47377400	Active TSS	Brain Cingulate Gyrus	brain
11	chr11:47375800-47377600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr11:47376200-47377400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:47376200-47377400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:47376200-47377400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:47376200-47377400	Enhancers	Stomach Mucosa	stomach
16	chr11:47376200-47380200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr11:47376400-47377400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:47376400-47377400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:47376400-47377400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:47376400-47377400	Active TSS	Brain Anterior Caudate	brain
21	chr11:47376400-47377400	Active TSS	Brain Substantia Nigra	brain
22	chr11:47376400-47377400	Active TSS	Colon Smooth Muscle	Colon
23	chr11:47376400-47377400	Active TSS	Fetal Intestine Large	intestine
24	chr11:47376400-47377400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr11:47376400-47377400	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:47376400-47377400	Active TSS	HSMM	muscle
27	chr11:47376400-47377600	Enhancers	Placenta	Placenta
28	chr11:47376600-47377400	Active TSS	Brain Hippocampus Middle	brain
29	chr11:47376600-47377400	Active TSS	Osteobl	bone
30	chr11:47376600-47377600	Enhancers	Lung	lung
31	chr11:47376600-47377800	Active TSS	A549	lung
32	chr11:47376800-47377400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:47376800-47377400	Bivalent Enhancer	Fetal Brain Male	brain
34	chr11:47376800-47377400	Active TSS	Fetal Kidney	kidney
35	chr11:47376800-47377600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:47376800-47377800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:47376800-47381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:47377000-47377400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:47377000-47377400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:47377000-47377400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:47377000-47377400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr11:47377000-47377400	Flanking Active TSS	Fetal Stomach	stomach
43	chr11:47377000-47377400	Flanking Active TSS	NHEK	skin
44	chr11:47377000-47377600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:47377000-47377600	Flanking Active TSS	Fetal Lung	lung
46	chr11:47377000-47377600	Enhancers	K562	blood
47	chr11:47377000-47377800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:47377000-47377800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:47377000-47377800	Flanking Active TSS	Esophagus	oesophagus
50	chr11:47377200-47377400	Enhancers	H1 Cell Line	embryonic stem cell

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