Variant report

Variant	rs573825537
Chromosome Location	chr11:47292213-47292214
allele	-/AAG
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	RCOR1	chr11:47292206-47292754	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:47290109-47292622	K562	blood:	n/a	n/a
5	MXI1	chr11:47292121-47292696	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:47292175-47292554	K562	blood:	n/a	n/a
7	POLR2A	chr11:47292080-47292707	H1-neurons	neurons:	n/a	n/a
8	REST	chr11:47291966-47292309	PANC-1	pancreas:	n/a	chr11:47292130-47292137
9	REST	chr11:47291439-47292584	K562	blood:	n/a	chr11:47291653-47291663 chr11:47292130-47292137
10	SIN3AK20	chr11:47291970-47292576	K562	blood:	n/a	n/a
11	REST	chr11:47291912-47292889	SK-N-SH	brain:	n/a	chr11:47292130-47292137
12	POLR2A	chr11:47292129-47292732	H1-neurons	neurons:	n/a	n/a
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	BHLHE40	chr11:47292150-47292816	K562	blood:	n/a	n/a
16	REST	chr11:47291924-47292540	GM12878	blood:	n/a	chr11:47292130-47292137
17	REST	chr11:47291979-47292569	A549	lung:	n/a	chr11:47292130-47292137
18	POLR2A	chr11:47292060-47292866	Hela-S3	cervix:	n/a	n/a
19	SIN3A	chr11:47292137-47292449	GM12878	blood:	n/a	n/a
20	MXI1	chr11:47290124-47293282	SK-N-SH	brain:	n/a	n/a
21	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
22	REST	chr11:47290165-47292927	H1-neurons	neurons:	n/a	chr11:47291210-47291223 chr11:47291653-47291663 chr11:47290941-47290954 chr11:47292130-47292137
23	MAZ	chr11:47290432-47292699	Hela-S3	cervix:	n/a	chr11:47292088-47292098 chr11:47291637-47291647
24	REST	chr11:47291940-47292553	MCF-7	breast:	n/a	chr11:47292130-47292137
25	CCNT2	chr11:47292128-47292994	K562	blood:	n/a	chr11:47292348-47292357
26	SMARCB1	chr11:47290726-47292291	Hela-S3	cervix:	n/a	n/a
27	HCFC1	chr11:47289635-47293474	Hela-S3	cervix:	n/a	n/a
28	MXI1	chr11:47292147-47292711	GM12878	blood:	n/a	n/a
29	REST	chr11:47291965-47292904	PFSK-1	brain:	n/a	chr11:47292130-47292137
30	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
31	REST	chr11:47291938-47292331	HL-60	blood:	n/a	chr11:47292130-47292137
32	SIN3A	chr11:47290357-47292777	H1-hESC	embryonic stem cell:	n/a	chr11:47291215-47291226 chr11:47291510-47291521 chr11:47291104-47291117
33	SIN3AK20	chr11:47290173-47293006	MCF-7	breast:	n/a	n/a
34	REST	chr11:47291935-47292605	MCF-7	breast:	n/a	chr11:47292130-47292137
35	REST	chr11:47291936-47292820	PFSK-1	brain:	n/a	chr11:47292130-47292137
36	JUND	chr11:47290075-47293080	SK-N-SH	brain:	n/a	chr11:47293020-47293029
37	REST	chr11:47291952-47292723	Hela-S3	cervix:	n/a	chr11:47292130-47292137
38	REST	chr11:47291945-47292504	U87	brain:	n/a	chr11:47292130-47292137
39	REST	chr11:47291958-47292248	PFSK-1	brain:	n/a	chr11:47292130-47292137
40	REST	chr11:47291947-47292504	U87	brain:	n/a	chr11:47292130-47292137
41	POLR2A	chr11:47290424-47292717	IMR90	lung:	n/a	n/a
42	REST	chr11:47291963-47292539	ECC-1	luminal epithelium:	n/a	chr11:47292130-47292137
43	TEAD4	chr11:47292182-47293086	K562	blood:	n/a	n/a
44	MAX	chr11:47292061-47292793	K562	blood:	n/a	chr11:47292088-47292098
45	MAZ	chr11:47290304-47292806	K562	blood:	n/a	chr11:47292088-47292098 chr11:47291637-47291647
46	REST	chr11:47291960-47292264	H1-hESC	embryonic stem cell:	n/a	chr11:47292130-47292137
47	MAZ	chr11:47290133-47293009	IMR90	lung:	n/a	chr11:47292088-47292098 chr11:47291637-47291647
48	REST	chr11:47291840-47292520	ECC-1	luminal epithelium:	n/a	chr11:47292130-47292137
49	POLR2A	chr11:47292166-47292840	PFSK-1	brain:	n/a	n/a
50	CTCF	chr11:47292148-47293036	SK-N-SH	brain:	n/a	n/a

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	chr11:47292200..47292859-chr11:47429308..47429854,2	MCF-7	breast:
8	chr11:47291353..47293892-chr11:47343454..47345274,2	K562	blood:
9	chr11:47289567..47294786-chr11:47310778..47315538,7	MCF-7	breast:
10	chr11:46401780..46403457-chr11:47290200..47292891,2	MCF-7	breast:
11	chr11:47279843..47284326-chr11:47288675..47293634,16	MCF-7	breast:
12	chr11:47263865..47272320-chr11:47288426..47294726,14	MCF-7	breast:
13	chr11:47264797..47267629-chr11:47289343..47292246,3	K562	blood:
14	chr11:47290951..47293321-chr11:47445782..47448016,2	K562	blood:
15	chr11:47277336..47279783-chr11:47290576..47292976,4	MCF-7	breast:
16	chr11:47289554..47292260-chr11:47397624..47400665,3	K562	blood:
17	chr11:47235321..47238553-chr11:47290387..47292949,4	K562	blood:
18	chr11:47291588..47294118-chr11:47313687..47316370,3	K562	blood:
19	chr11:47277979..47283267-chr11:47289057..47293509,9	K562	blood:
20	chr11:47204494..47207545-chr11:47289955..47292546,3	K562	blood:
21	chr11:47268938..47272778-chr11:47288986..47293565,7	MCF-7	breast:
22	chr11:47268303..47273264-chr11:47289525..47294481,12	K562	blood:
23	chr11:47195231..47200543-chr11:47288487..47293127,12	MCF-7	breast:
24	chr11:47290550..47292544-chr11:47348957..47351454,2	MCF-7	breast:
25	chr11:47292062..47293120-chr11:47376381..47377320,5	MCF-7	breast:
26	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
27	chr11:47291167..47293193-chr11:47345602..47348128,2	K562	blood:
28	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
29	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
30	chr11:47234552..47236757-chr11:47290593..47292750,2	MCF-7	breast:
31	chr11:47196068..47203526-chr11:47288943..47293025,13	MCF-7	breast:
32	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACP2-2	chr11:47292208-47292531	ENSG00000256746.1

Variant related genes	Relation type
MADD	TF binding region
ENSG00000255197	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000247675	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000165916	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000134571	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000066336	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	chr11:47290600-47292400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:47290600-47292400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:47290600-47292400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:47290600-47292400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:47290600-47292400	Active TSS	Esophagus	oesophagus
8	chr11:47290600-47292400	Active TSS	Fetal Kidney	kidney
9	chr11:47290600-47292400	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr11:47290600-47292600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:47290600-47292600	Active TSS	Ovary	ovary
12	chr11:47290600-47292800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:47290600-47292800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:47290600-47292800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr11:47290600-47294000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:47290800-47292400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:47290800-47292400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:47290800-47292400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:47290800-47292400	Active TSS	Brain Substantia Nigra	brain
20	chr11:47290800-47292400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr11:47290800-47292400	Active TSS	Gastric	stomach
22	chr11:47290800-47292400	Active TSS	Spleen	Spleen
23	chr11:47290800-47292600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:47290800-47292600	Active TSS	Aorta	Aorta
25	chr11:47290800-47292600	Active TSS	Small Intestine	intestine
26	chr11:47291000-47292400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:47291000-47292400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:47291000-47292400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:47291000-47292400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:47291000-47292400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr11:47291000-47292400	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr11:47291000-47292400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr11:47291000-47292400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:47291000-47292400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:47291000-47292400	Active TSS	Brain Angular Gyrus	brain
36	chr11:47291000-47292400	Active TSS	Brain Hippocampus Middle	brain
37	chr11:47291000-47292400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:47291000-47292400	Active TSS	Fetal Brain Female	brain
39	chr11:47291000-47292400	Active TSS	Fetal Intestine Large	intestine
40	chr11:47291000-47292400	Active TSS	Lung	lung
41	chr11:47291000-47292400	Active TSS	Stomach Mucosa	stomach
42	chr11:47291000-47292400	Active TSS	Stomach Smooth Muscle	stomach
43	chr11:47291000-47292400	Active TSS	HSMMtube	muscle
44	chr11:47291000-47292600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:47291000-47292600	Active TSS	Brain Germinal Matrix	brain
46	chr11:47291000-47292600	Active TSS	HepG2	liver
47	chr11:47291000-47292600	Active TSS	NHDF-Ad	bronchial
48	chr11:47291000-47292800	Active TSS	A549	lung
49	chr11:47291000-47292800	Active TSS	GM12878-XiMat	blood
50	chr11:47291000-47293000	Active TSS	Left Ventricle	heart

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