Variant report

Variant	rs189006909
Chromosome Location	chr11:47292127-47292128
allele	C/T
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	REST	chr11:47291985-47292316	HepG2	liver:	n/a	chr11:47292130-47292137
2	REST	chr11:47291365-47293183	HL-60	blood:	n/a	chr11:47291653-47291663 chr11:47292130-47292137
3	POLR2A	chr11:47290109-47292622	K562	blood:	n/a	n/a
4	MXI1	chr11:47292121-47292696	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:47292080-47292707	H1-neurons	neurons:	n/a	n/a
6	REST	chr11:47291966-47292309	PANC-1	pancreas:	n/a	chr11:47292130-47292137
7	REST	chr11:47291439-47292584	K562	blood:	n/a	chr11:47291653-47291663 chr11:47292130-47292137
8	SIN3AK20	chr11:47291970-47292576	K562	blood:	n/a	n/a
9	POLR2A	chr11:47290021-47292148	K562	blood:	n/a	n/a
10	POLR2A	chr11:47292095-47292173	MCF-7	breast:	n/a	n/a
11	REST	chr11:47291912-47292889	SK-N-SH	brain:	n/a	chr11:47292130-47292137
12	REST	chr11:47291948-47292189	GM12878	blood:	n/a	chr11:47292130-47292137
13	REST	chr11:47291954-47292286	SK-N-SH	brain:	n/a	chr11:47292130-47292137
14	MAX	chr11:47292080-47292566	K562	blood:	n/a	chr11:47292088-47292098
15	REST	chr11:47291924-47292540	GM12878	blood:	n/a	chr11:47292130-47292137
16	REST	chr11:47291979-47292569	A549	lung:	n/a	chr11:47292130-47292137
17	REST	chr11:47292036-47292177	PFSK-1	brain:	n/a	chr11:47292130-47292137
18	POLR2A	chr11:47292060-47292866	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr11:47290124-47293282	SK-N-SH	brain:	n/a	n/a
20	EGR1	chr11:47291922-47292217	K562	blood:	n/a	chr11:47292085-47292098 chr11:47292085-47292098 chr11:47292085-47292098 chr11:47292050-47292064 chr11:47292153-47292163 chr11:47292086-47292100 chr11:47292084-47292099
21	REST	chr11:47290165-47292927	H1-neurons	neurons:	n/a	chr11:47291210-47291223 chr11:47291653-47291663 chr11:47290941-47290954 chr11:47292130-47292137
22	MAZ	chr11:47290432-47292699	Hela-S3	cervix:	n/a	chr11:47292088-47292098 chr11:47291637-47291647
23	REST	chr11:47291926-47292193	PANC-1	pancreas:	n/a	chr11:47292130-47292137
24	REST	chr11:47291940-47292553	MCF-7	breast:	n/a	chr11:47292130-47292137
25	SMARCB1	chr11:47290726-47292291	Hela-S3	cervix:	n/a	n/a
26	REST	chr11:47291989-47292158	HepG2	liver:	n/a	chr11:47292130-47292137
27	EGR1	chr11:47291939-47292174	GM12878	blood:	n/a	chr11:47292085-47292098 chr11:47292085-47292098 chr11:47292085-47292098 chr11:47292050-47292064 chr11:47292153-47292163 chr11:47292086-47292100 chr11:47292084-47292099
28	HCFC1	chr11:47289635-47293474	Hela-S3	cervix:	n/a	n/a
29	REST	chr11:47291965-47292904	PFSK-1	brain:	n/a	chr11:47292130-47292137
30	REST	chr11:47291959-47292160	K562	blood:	n/a	chr11:47292130-47292137
31	EGR1	chr11:47291862-47292545	K562	blood:	n/a	chr11:47292085-47292098 chr11:47292085-47292098 chr11:47292085-47292098 chr11:47292050-47292064 chr11:47292153-47292163 chr11:47292086-47292100 chr11:47292084-47292099
32	REST	chr11:47291938-47292331	HL-60	blood:	n/a	chr11:47292130-47292137
33	REST	chr11:47292002-47292189	GM12878	blood:	n/a	chr11:47292130-47292137
34	SIN3A	chr11:47290357-47292777	H1-hESC	embryonic stem cell:	n/a	chr11:47291215-47291226 chr11:47291510-47291521 chr11:47291104-47291117
35	MYC	chr11:47292090-47292153	MCF-7	breast:	n/a	n/a
36	SIN3AK20	chr11:47290173-47293006	MCF-7	breast:	n/a	n/a
37	REST	chr11:47291935-47292605	MCF-7	breast:	n/a	chr11:47292130-47292137
38	EGR1	chr11:47291939-47292155	GM12878	blood:	n/a	chr11:47292085-47292098 chr11:47292085-47292098 chr11:47292085-47292098 chr11:47292050-47292064 chr11:47292086-47292100 chr11:47292084-47292099
39	ZBTB7A	chr11:47291391-47292178	K562	blood:	n/a	n/a
40	REST	chr11:47291936-47292820	PFSK-1	brain:	n/a	chr11:47292130-47292137
41	JUND	chr11:47290075-47293080	SK-N-SH	brain:	n/a	chr11:47293020-47293029
42	REST	chr11:47291952-47292723	Hela-S3	cervix:	n/a	chr11:47292130-47292137
43	REST	chr11:47291945-47292504	U87	brain:	n/a	chr11:47292130-47292137
44	REST	chr11:47291958-47292248	PFSK-1	brain:	n/a	chr11:47292130-47292137
45	REST	chr11:47291986-47292177	PANC-1	pancreas:	n/a	chr11:47292130-47292137
46	REST	chr11:47291947-47292504	U87	brain:	n/a	chr11:47292130-47292137
47	POLR2A	chr11:47290424-47292717	IMR90	lung:	n/a	n/a
48	REST	chr11:47291963-47292539	ECC-1	luminal epithelium:	n/a	chr11:47292130-47292137
49	MAX	chr11:47292061-47292793	K562	blood:	n/a	chr11:47292088-47292098
50	REST	chr11:47291961-47292191	HepG2	liver:	n/a	chr11:47292130-47292137

No.	Distal block	Cell Line	Cell type
1	chr11:47292004..47292682-chr11:47376539..47377229,2	MCF-7	breast:
2	chr11:47267881..47272421-chr11:47288787..47294481,12	K562	blood:
3	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
4	chr11:46867608..46869466-chr11:47290892..47293495,3	MCF-7	breast:
5	chr11:47195816..47200318-chr11:47289518..47292814,8	K562	blood:
6	chr11:47194502..47201735-chr11:47289181..47294156,14	K562	blood:
7	chr11:47291353..47293892-chr11:47343454..47345274,2	K562	blood:
8	chr11:47289567..47294786-chr11:47310778..47315538,7	MCF-7	breast:
9	chr11:46401780..46403457-chr11:47290200..47292891,2	MCF-7	breast:
10	chr11:47279843..47284326-chr11:47288675..47293634,16	MCF-7	breast:
11	chr11:47263865..47272320-chr11:47288426..47294726,14	MCF-7	breast:
12	chr11:47264797..47267629-chr11:47289343..47292246,3	K562	blood:
13	chr11:47290951..47293321-chr11:47445782..47448016,2	K562	blood:
14	chr11:47277336..47279783-chr11:47290576..47292976,4	MCF-7	breast:
15	chr11:47289554..47292260-chr11:47397624..47400665,3	K562	blood:
16	chr11:47235321..47238553-chr11:47290387..47292949,4	K562	blood:
17	chr11:47291588..47294118-chr11:47313687..47316370,3	K562	blood:
18	chr11:47277979..47283267-chr11:47289057..47293509,9	K562	blood:
19	chr11:47204494..47207545-chr11:47289955..47292546,3	K562	blood:
20	chr11:47268938..47272778-chr11:47288986..47293565,7	MCF-7	breast:
21	chr11:47268303..47273264-chr11:47289525..47294481,12	K562	blood:
22	chr11:47195231..47200543-chr11:47288487..47293127,12	MCF-7	breast:
23	chr11:47290550..47292544-chr11:47348957..47351454,2	MCF-7	breast:
24	chr11:47292062..47293120-chr11:47376381..47377320,5	MCF-7	breast:
25	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
26	chr11:47291167..47293193-chr11:47345602..47348128,2	K562	blood:
27	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
28	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
29	chr11:47234552..47236757-chr11:47290593..47292750,2	MCF-7	breast:
30	chr11:47196068..47203526-chr11:47288943..47293025,13	MCF-7	breast:
31	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:

Variant related genes	Relation type
MADD	TF binding region
ENSG00000165915	Chromatin interaction
ENSG00000165916	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000247675	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000134571	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	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	esv3407193	chr11:47290401-47292949	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3436371	chr11:47291576-47292674	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47290400-47292400	Active TSS	Right Atrium	heart
2	chr11:47290400-47292800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:47290600-47292200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:47290600-47292200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:47290600-47292200	Active TSS	Colonic Mucosa	Colon
6	chr11:47290600-47292200	Active TSS	Duodenum Mucosa	Duodenum
7	chr11:47290600-47292200	Active TSS	Fetal Brain Male	brain
8	chr11:47290600-47292200	Active TSS	Fetal Intestine Small	intestine
9	chr11:47290600-47292200	Active TSS	Psoas Muscle	Psoas
10	chr11:47290600-47292200	Active TSS	K562	blood
11	chr11:47290600-47292400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:47290600-47292400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:47290600-47292400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:47290600-47292400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:47290600-47292400	Active TSS	Esophagus	oesophagus
16	chr11:47290600-47292400	Active TSS	Fetal Kidney	kidney
17	chr11:47290600-47292400	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr11:47290600-47292600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:47290600-47292600	Active TSS	Ovary	ovary
20	chr11:47290600-47292800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:47290600-47292800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr11:47290600-47292800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr11:47290600-47294000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:47290800-47292200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:47290800-47292200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:47290800-47292200	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr11:47290800-47292200	Active TSS	Brain Anterior Caudate	brain
28	chr11:47290800-47292200	Active TSS	Placenta Amnion	Placenta Amnion
29	chr11:47290800-47292200	Active TSS	Thymus	Thymus
30	chr11:47290800-47292400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:47290800-47292400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:47290800-47292400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr11:47290800-47292400	Active TSS	Brain Substantia Nigra	brain
34	chr11:47290800-47292400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr11:47290800-47292400	Active TSS	Gastric	stomach
36	chr11:47290800-47292400	Active TSS	Spleen	Spleen
37	chr11:47290800-47292600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:47290800-47292600	Active TSS	Aorta	Aorta
39	chr11:47290800-47292600	Active TSS	Small Intestine	intestine
40	chr11:47291000-47292200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:47291000-47292200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:47291000-47292200	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr11:47291000-47292200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr11:47291000-47292200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:47291000-47292200	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr11:47291000-47292200	Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr11:47291000-47292200	Active TSS	Primary B cells from peripheral blood	blood
48	chr11:47291000-47292200	Active TSS	Primary T cells from cord blood	blood
49	chr11:47291000-47292200	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr11:47291000-47292200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links