Variant report

Variant	rs557685582
Chromosome Location	chr11:47292659-47292660
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:164)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:164 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:47292430-47292762	GM12878	blood:	n/a	n/a
2	RCOR1	chr11:47292237-47293097	K562	blood:	n/a	n/a
3	ARID3A	chr11:47292332-47292728	K562	blood:	n/a	n/a
4	REST	chr11:47291365-47293183	HL-60	blood:	n/a	chr11:47291653-47291663 chr11:47292130-47292137
5	RCOR1	chr11:47292206-47292754	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr11:47292640-47292790	BE2_C	brain:	n/a	n/a
7	CTCF	chr11:47292620-47292770	GM12873	blood:	n/a	n/a
8	CTCF	chr11:47292600-47292750	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr11:47292290-47292865	HCT-116	colon:	n/a	n/a
10	KAP1	chr11:47292297-47293100	HEK293	kidney:	n/a	n/a
11	CTCF	chr11:47292580-47292730	AG10803	skin:	n/a	n/a
12	CTCF	chr11:47292580-47292730	GM12878	blood:	n/a	n/a
13	CTCF	chr11:47292540-47292690	HPAF	blood vessel:	n/a	n/a
14	MXI1	chr11:47292121-47292696	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr11:47292620-47292770	K562	blood:	n/a	n/a
16	RAD21	chr11:47292396-47292820	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr11:47292563-47292711	HepG2	liver:	n/a	n/a
18	CTCF	chr11:47292560-47292710	HMEC	breast:	n/a	n/a
19	CTCF	chr11:47292540-47292690	NHDF-neo	bronchial:	n/a	n/a
20	GATA2	chr11:47292240-47293153	SH-SY5Y	brain:	n/a	chr11:47293019-47293029
21	POLR2A	chr11:47292080-47292707	H1-neurons	neurons:	n/a	n/a
22	RUNX3	chr11:47292274-47292698	GM12878	blood:	n/a	chr11:47292502-47292519
23	POLR2A	chr11:47292220-47292819	K562	blood:	n/a	n/a
24	CTCF	chr11:47292520-47292670	GM12872	blood:	n/a	n/a
25	USF2	chr11:47292421-47292701	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr11:47292540-47292690	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr11:47292506-47292761	HepG2	liver:	n/a	n/a
28	CTCF	chr11:47292600-47292750	GM12864	blood:	n/a	n/a
29	BRCA1	chr11:47292264-47292832	Hela-S3	cervix:	n/a	n/a
30	TAL1	chr11:47292428-47292715	K562	blood:	n/a	n/a
31	MAFK	chr11:47292265-47292832	Hela-S3	cervix:	n/a	chr11:47292470-47292487
32	CTCF	chr11:47292540-47292690	GM12864	blood:	n/a	n/a
33	CTCF	chr11:47292423-47292810	GM12878	blood:	n/a	n/a
34	CTCF	chr11:47292560-47292710	HPF	lung:	n/a	n/a
35	CTCF	chr11:47292580-47292730	AG09319	gingival:	n/a	n/a
36	ELK1	chr11:47292578-47292777	K562	blood:	n/a	n/a
37	RFX5	chr11:47292249-47292739	Hela-S3	cervix:	n/a	chr11:47292564-47292579
38	CTCF	chr11:47292600-47292750	AG09309	skin:	n/a	n/a
39	RAD21	chr11:47292499-47292792	HepG2	liver:	n/a	n/a
40	CTCF	chr11:47292540-47292690	HEEpiC	esophagus:	n/a	n/a
41	REST	chr11:47291912-47292889	SK-N-SH	brain:	n/a	chr11:47292130-47292137
42	RCOR1	chr11:47292345-47292681	HepG2	liver:	n/a	n/a
43	CTCF	chr11:47292560-47292710	SK-N-SH_RA	brain:	n/a	n/a
44	POLR2A	chr11:47292129-47292732	H1-neurons	neurons:	n/a	n/a
45	CTCF	chr11:47292540-47292690	SK-N-SH_RA	brain:	n/a	n/a
46	BHLHE40	chr11:47292150-47292816	K562	blood:	n/a	n/a
47	MAFK	chr11:47292247-47292788	K562	blood:	n/a	chr11:47292470-47292487
48	CTCF	chr11:47292640-47292790	GM12871	blood:	n/a	n/a
49	TBL1XR1	chr11:47292372-47292772	K562	blood:	n/a	n/a
50	CTCF	chr11:47292638-47292672	NHEK	skin:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

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	chr11:47292359..47292934-chr16:87551044..87551823,2	Hela-S3	cervix:
7	chr11:47194502..47201735-chr11:47289181..47294156,14	K562	blood:
8	chr11:47292200..47292859-chr11:47429308..47429854,2	MCF-7	breast:
9	chr11:47291353..47293892-chr11:47343454..47345274,2	K562	blood:
10	chr11:47289567..47294786-chr11:47310778..47315538,7	MCF-7	breast:
11	chr11:46401780..46403457-chr11:47290200..47292891,2	MCF-7	breast:
12	chr11:47279843..47284326-chr11:47288675..47293634,16	MCF-7	breast:
13	chr11:47263865..47272320-chr11:47288426..47294726,14	MCF-7	breast:
14	chr11:47290951..47293321-chr11:47445782..47448016,2	K562	blood:
15	chr11:47277336..47279783-chr11:47290576..47292976,4	MCF-7	breast:
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	chr11:47268938..47272778-chr11:47288986..47293565,7	MCF-7	breast:
20	chr11:47268303..47273264-chr11:47289525..47294481,12	K562	blood:
21	chr11:47195231..47200543-chr11:47288487..47293127,12	MCF-7	breast:
22	chr11:47292062..47293120-chr11:47376381..47377320,5	MCF-7	breast:
23	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
24	chr11:47291167..47293193-chr11:47345602..47348128,2	K562	blood:
25	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
26	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
27	chr11:47234552..47236757-chr11:47290593..47292750,2	MCF-7	breast:
28	chr11:47196068..47203526-chr11:47288943..47293025,13	MCF-7	breast:
29	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACP2-2	chr11:47292630-47292692	ENSG00000256746.1
2	lnc-ACP2-2	chr11:47292630-47292692	ENSG00000256746.1

No data

Variant related genes	Relation type
MADD	TF binding region
ENSG00000110492	Chromatin interaction
ENSG00000165916	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000134571	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000247675	Chromatin interaction
ENSG00000165915	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	chr11:47290400-47292800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:47290600-47292800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:47290600-47292800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:47290600-47292800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr11:47290600-47294000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:47291000-47292800	Active TSS	A549	lung
7	chr11:47291000-47292800	Active TSS	GM12878-XiMat	blood
8	chr11:47291000-47293000	Active TSS	Left Ventricle	heart
9	chr11:47292000-47292800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:47292200-47292800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:47292200-47292800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:47292200-47292800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:47292200-47292800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr11:47292200-47292800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr11:47292200-47292800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:47292200-47292800	Flanking Active TSS	Fetal Heart	heart
17	chr11:47292200-47292800	Flanking Active TSS	Fetal Lung	lung
18	chr11:47292200-47292800	Flanking Active TSS	Fetal Stomach	stomach
19	chr11:47292200-47292800	Flanking Active TSS	Pancreas	Pancrea
20	chr11:47292200-47292800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr11:47292200-47292800	Flanking Active TSS	HUVEC	blood vessel
22	chr11:47292200-47293000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:47292200-47293000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr11:47292200-47293000	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr11:47292200-47293000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:47292200-47293000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr11:47292200-47293000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:47292200-47293000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:47292200-47293000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:47292200-47293000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr11:47292200-47293000	Flanking Active TSS	Colonic Mucosa	Colon
32	chr11:47292200-47293000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr11:47292200-47293000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:47292200-47293000	Flanking Active TSS	Fetal Brain Male	brain
35	chr11:47292200-47293000	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr11:47292200-47293000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:47292200-47293000	Flanking Active TSS	Right Ventricle	heart
38	chr11:47292200-47293000	Flanking Active TSS	HMEC	breast
39	chr11:47292200-47293000	Flanking Active TSS	NH-A	brain
40	chr11:47292200-47293000	Flanking Active TSS	NHEK	skin
41	chr11:47292200-47293000	Flanking Active TSS	Osteobl	bone
42	chr11:47292200-47293200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:47292200-47293200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:47292200-47293200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr11:47292200-47293200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:47292200-47293200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr11:47292200-47293200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:47292200-47293200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:47292200-47293200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:47292200-47293200	Flanking Active TSS	Brain Cingulate Gyrus	brain

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