Variant report

Variant	rs533337368
Chromosome Location	chr11:57408638-57408639
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:57408506-57408736	GM19240	blood:	n/a	n/a
2	POLR2A	chr11:57406679-57409638	PBDE	blood:	n/a	n/a
3	CTCF	chr11:57408553-57408679	HepG2	liver:	n/a	n/a
4	RAD21	chr11:57408482-57409352	Hela-S3	cervix:	n/a	chr11:57408797-57408809 chr11:57409160-57409179
5	CTCF	chr11:57408620-57408770	NHDF-neo	bronchial:	n/a	n/a
6	CTCF	chr11:57408520-57408670	BE2_C	brain:	n/a	n/a
7	CTCF	chr11:57408520-57408670	AG09319	gingival:	n/a	n/a
8	CTCF	chr11:57408540-57408690	GM12872	blood:	n/a	n/a
9	CTCF	chr11:57408560-57408710	NHLF	lung:	n/a	n/a
10	CTCF	chr11:57408520-57408670	AG09309	skin:	n/a	n/a
11	CTCF	chr11:57408525-57408709	MCF-7	breast:	n/a	n/a
12	RAD21	chr11:57408468-57409472	HCT-116	colon:	n/a	chr11:57408797-57408809 chr11:57409160-57409179
13	ZNF143	chr11:57408511-57408799	K562	blood:	n/a	n/a
14	CTCF	chr11:57408348-57409387	K562	blood:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
15	CTCF	chr11:57408557-57408717	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:57408520-57408670	HMEC	breast:	n/a	n/a
17	CTCF	chr11:57408600-57408750	AG04450	lung:	n/a	n/a
18	CTCF	chr11:57408540-57408690	HEK293	kidney:	n/a	n/a
19	CTCF	chr11:57408402-57408791	HepG2	liver:	n/a	n/a
20	ZNF143	chr11:57408557-57409327	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr11:57408536-57408724	MCF-7	breast:	n/a	n/a
22	MAX	chr11:57408478-57408806	K562	blood:	n/a	n/a
23	CTCF	chr11:57408560-57408710	GM12873	blood:	n/a	n/a
24	CTCF	chr11:57408500-57408650	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
26	CTCF	chr11:57408540-57408690	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr11:57408580-57408730	GM12874	blood:	n/a	n/a
28	TBL1XR1	chr11:57408603-57408723	K562	blood:	n/a	n/a
29	CTCF	chr11:57408434-57408733	A549	lung:	n/a	n/a
30	CTCF	chr11:57408620-57408770	HAc	cerebellar:	n/a	n/a
31	CTCF	chr11:57408620-57408770	GM06990	blood:	n/a	n/a
32	CTCF	chr11:57408560-57408710	HRPEpiC	eye:	n/a	n/a
33	RAD21	chr11:57408518-57408707	K562	blood:	n/a	n/a
34	CTCF	chr11:57408408-57408731	K562	blood:	n/a	n/a
35	CTCF	chr11:57408507-57408734	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr11:57408514-57408751	GM19238	blood:	n/a	n/a
37	CTCF	chr11:57408560-57408710	HFF	foreskin:	n/a	n/a
38	CTCF	chr11:57408600-57408750	GM12873	blood:	n/a	n/a
39	CTCF	chr11:57408560-57408710	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr11:57408540-57408690	SK-N-SH_RA	brain:	n/a	n/a
41	POLR2A	chr11:57404853-57409799	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAZ	chr11:57408436-57409265	K562	blood:	n/a	n/a
43	CTCF	chr11:57408600-57408750	GM12865	blood:	n/a	n/a
44	NRF1	chr11:57408581-57408695	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr11:57408553-57408691	GM10266	blood:	n/a	n/a
46	SIN3A	chr11:57408438-57409293	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr11:57408540-57408690	AG04450	lung:	n/a	n/a
48	CTCF	chr11:57408514-57408720	GM13977	blood:	n/a	n/a
49	CTCF	chr11:57408540-57408690	BJ	skin:	n/a	n/a
50	POLR2A	chr11:57404978-57410762	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57405566..57408530-chr11:57408605..57410550,2	MCF-7	breast:
2	chr11:57335324..57336323-chr11:57408291..57409695,14	MCF-7	breast:
3	chr11:57407680..57409367-chr11:57422916..57424875,2	MCF-7	breast:
4	chr11:57334539..57338384-chr11:57406664..57411574,5	MCF-7	breast:
5	chr11:57335355..57336298-chr11:57408531..57409635,7	K562	blood:

No data

Variant related genes	Relation type
MIR130A	TF binding region
ENSG00000172409	Chromatin interaction
ENSG00000254602	Chromatin interaction
ENSG00000156587	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57403000-57412200	Weak transcription	Hela-S3	cervix
2	chr11:57405000-57408800	Active TSS	Fetal Kidney	kidney
3	chr11:57406400-57409000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:57406600-57409000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:57406600-57409000	Enhancers	K562	blood
6	chr11:57406800-57408800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:57406800-57408800	Flanking Active TSS	Fetal Brain Female	brain
8	chr11:57406800-57409600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:57407000-57408800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr11:57407000-57408800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr11:57407000-57408800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:57407000-57409200	Enhancers	Liver	Liver
13	chr11:57407200-57408800	Enhancers	Left Ventricle	heart
14	chr11:57407200-57408800	Genic enhancers	Right Atrium	heart
15	chr11:57407200-57409000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
16	chr11:57407200-57409000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
17	chr11:57407200-57409400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
18	chr11:57407200-57409400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
19	chr11:57407200-57412200	Weak transcription	Ovary	ovary
20	chr11:57407400-57408800	Enhancers	Adipose Nuclei	Adipose
21	chr11:57407400-57408800	Enhancers	Brain Hippocampus Middle	brain
22	chr11:57407400-57408800	Enhancers	Placenta	Placenta
23	chr11:57407400-57409000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:57407400-57412600	Weak transcription	GM12878-XiMat	blood
25	chr11:57407600-57408800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr11:57407600-57408800	Enhancers	Thymus	Thymus
27	chr11:57407600-57409000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:57407600-57409000	Enhancers	Brain Anterior Caudate	brain
29	chr11:57407600-57409000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:57407600-57409200	Enhancers	Primary T cells from cord blood	blood
31	chr11:57407600-57409200	Weak transcription	Colonic Mucosa	Colon
32	chr11:57407600-57409200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:57407600-57412200	Weak transcription	Spleen	Spleen
36	chr11:57407600-57413000	Weak transcription	Right Ventricle	heart
37	chr11:57407600-57413200	Weak transcription	Esophagus	oesophagus
38	chr11:57407800-57408800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:57407800-57408800	Enhancers	Stomach Smooth Muscle	stomach
40	chr11:57407800-57409000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:57407800-57409000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:57407800-57409000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:57407800-57409000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:57407800-57409000	Enhancers	A549	lung
45	chr11:57407800-57409200	Enhancers	Fetal Intestine Large	intestine
46	chr11:57407800-57409200	Genic enhancers	Fetal Stomach	stomach
47	chr11:57407800-57409400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
48	chr11:57407800-57409400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr11:57407800-57409600	Enhancers	Fetal Heart	heart
50	chr11:57407800-57409600	Genic enhancers	Fetal Lung	lung

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