Variant report

Variant	rs529409300
Chromosome Location	chr11:57408533-57408534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

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	RAD21	chr11:57408482-57409352	Hela-S3	cervix:	n/a	chr11:57408797-57408809 chr11:57409160-57409179
4	CTCF	chr11:57408520-57408670	BE2_C	brain:	n/a	n/a
5	CTCF	chr11:57408520-57408670	AG09319	gingival:	n/a	n/a
6	CTCF	chr11:57408520-57408670	AG09309	skin:	n/a	n/a
7	CTCF	chr11:57408525-57408709	MCF-7	breast:	n/a	n/a
8	RAD21	chr11:57408468-57409472	HCT-116	colon:	n/a	chr11:57408797-57408809 chr11:57409160-57409179
9	ZNF143	chr11:57408511-57408799	K562	blood:	n/a	n/a
10	CTCF	chr11:57408348-57409387	K562	blood:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
11	CTCF	chr11:57408520-57408670	HMEC	breast:	n/a	n/a
12	CTCF	chr11:57408480-57408630	GM12866	blood:	n/a	n/a
13	CTCF	chr11:57408402-57408791	HepG2	liver:	n/a	n/a
14	MAX	chr11:57408478-57408806	K562	blood:	n/a	n/a
15	CTCF	chr11:57408500-57408650	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
17	CTCF	chr11:57408434-57408733	A549	lung:	n/a	n/a
18	RAD21	chr11:57408518-57408707	K562	blood:	n/a	n/a
19	CTCF	chr11:57408408-57408731	K562	blood:	n/a	n/a
20	CTCF	chr11:57408480-57408630	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr11:57408507-57408734	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr11:57408514-57408751	GM19238	blood:	n/a	n/a
23	POLR2A	chr11:57404853-57409799	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAZ	chr11:57408436-57409265	K562	blood:	n/a	n/a
25	SIN3A	chr11:57408438-57409293	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr11:57408514-57408720	GM13977	blood:	n/a	n/a
27	POLR2A	chr11:57404978-57410762	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:57408499-57408727	HepG2	liver:	n/a	n/a
29	CTCF	chr11:57408428-57409380	IMR90	lung:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
30	CTCF	chr11:57408520-57408670	GM12864	blood:	n/a	n/a
31	CTCF	chr11:57408500-57408650	HBMEC	blood vessel:	n/a	n/a
32	POLR2A	chr11:57404927-57409727	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr11:57408500-57408650	RPTEC	kidney:	n/a	n/a
34	CTCF	chr11:57408520-57408670	GM06990	blood:	n/a	n/a
35	CTCF	chr11:57408520-57408670	AG10803	skin:	n/a	n/a
36	CTCF	chr11:57408505-57408720	GM12878	blood:	n/a	n/a
37	CTCF	chr11:57408520-57408670	GM12878	blood:	n/a	n/a
38	CTCF	chr11:57408232-57409596	A549	lung:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
39	POLR2A	chr11:57404802-57417187	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr11:57408446-57408941	HepG2	liver:	n/a	n/a
41	ATF2	chr11:57408370-57409591	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr11:57408420-57408570	GM12871	blood:	n/a	n/a
43	CTCF	chr11:57408520-57408670	AG04449	skin:	n/a	n/a
44	CTCF	chr11:57408520-57408670	HEEpiC	esophagus:	n/a	n/a
45	SMC3	chr11:57408491-57408605	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:57408531-57408898	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr11:57408499-57408673	GM10248	blood:	n/a	n/a
48	CTCF	chr11:57408367-57409579	HCT-116	colon:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
49	CHD2	chr11:57408392-57408615	H1-hESC	embryonic stem cell:	n/a	n/a
50	SMC3	chr11:57408434-57409341	K562	blood:	n/a	chr11:57409164-57409178

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57408514-57408564	HMEC	breast:	n/a
2	chr11:57408514-57408564	AoSMC	blood vessel:	n/a
3	chr11:57408514-57408564	NH-A	brain:	n/a
4	chr11:57408514-57408564	HCF	heart:	n/a
5	chr11:57408514-57408564	GM19239	blood:	n/a
6	chr11:57408514-57408564	H1-hESC	embryonic stem cell:	embryo
7	chr11:57408514-57408564	HCT-116	colon:	n/a
8	chr11:57408514-57408564	ECC-1	luminal epithelium:	n/a
9	chr11:57408514-57408564	Hepatocyte	liver:	n/a
10	chr11:57408514-57408564	BE2_C	brain:	n/a
11	chr11:57408514-57408564	GM06990	blood:	n/a
12	chr11:57408514-57408564	HNPCEpiC	eye:	n/a
13	chr11:57408514-57408564	HUVEC	blood vessel:	n/a
14	chr11:57408514-57408564	HepG2	liver:	n/a
15	chr11:57408514-57408564	ProgFib	skin:	n/a
16	chr11:57408514-57408564	MCF10A-Er-Src	breast:	n/a
17	chr11:57408514-57408564	HIPEpiC	eye:	n/a
18	chr11:57408514-57408564	HRPEpiC	eye:	n/a
19	chr11:57408514-57408564	MCF-7	breast:	n/a
20	chr11:57408514-57408564	NHBE	bronchial:	n/a
21	chr11:57408514-57408564	A549	lung:	n/a
22	chr11:57408514-57408564	U87	brain:	n/a
23	chr11:57408514-57408564	NHDF-neo	bronchial:	n/a
24	chr11:57408514-57408564	PrEC	prostate:	n/a
25	chr11:57408514-57408564	Jurkat	blood:	n/a
26	chr11:57408514-57408564	PFSK-1	brain:	n/a
27	chr11:57408514-57408564	HPAEpiC	pulmonary alveolar:	n/a
28	chr11:57408514-57408564	PANC-1	pancreas:	n/a
29	chr11:57408514-57408564	HRCEpiC	kidney:	n/a
30	chr11:57408514-57408564	ovcar-3	ovarian:	n/a
31	chr11:57408514-57408564	SKMC	muscle:	n/a
32	chr11:57408514-57408564	SK-N-MC	brain:	n/a
33	chr11:57408514-57408564	HL-60	blood:	n/a
34	chr11:57408514-57408564	K562	blood:	n/a
35	chr11:57408514-57408564	SK-N-SH_RA	brain:	n/a
36	chr11:57408514-57408564	RPTEC	kidney:	n/a
37	chr11:57408514-57408564	HAEpiC	amniotic membrane:	n/a
38	chr11:57408514-57408564	GM12891	blood:	n/a
39	chr11:57408514-57408564	Caco-2	colon:	n/a
40	chr11:57408514-57408564	HCPEpiC	choroid plexus:	n/a
41	chr11:57408514-57408564	IMR90	lung:	fetal
42	chr11:57408514-57408564	LNCaP	prostate:	n/a
43	chr11:57408514-57408564	AG09309	skin:	n/a
44	chr11:57408514-57408564	T-47D	breast:	n/a
45	chr11:57408514-57408564	BJ	skin:	n/a
46	chr11:57408514-57408564	SAEC	small airway:	n/a
47	chr11:57408514-57408564	NT2-D1	testis:	n/a
48	chr11:57408514-57408564	AG04449	skin:	fetal
49	chr11:57408514-57408564	SK-N-SH	brain:	n/a
50	chr11:57408514-57408564	AG04450	lung:	fetal

(count:4 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
MIR130A	TF binding region
MIR130A	CpG island
ENSG00000156587	Chromatin interaction
ENSG00000172409	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:100 , 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	chr11:57406800-57408600	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr11:57406800-57408600	Weak transcription	Brain Substantia Nigra	brain
8	chr11:57406800-57408800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:57406800-57408800	Flanking Active TSS	Fetal Brain Female	brain
10	chr11:57406800-57409600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:57407000-57408800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr11:57407000-57408800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr11:57407000-57408800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:57407000-57409200	Enhancers	Liver	Liver
15	chr11:57407200-57408800	Enhancers	Left Ventricle	heart
16	chr11:57407200-57408800	Genic enhancers	Right Atrium	heart
17	chr11:57407200-57409000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
18	chr11:57407200-57409000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
19	chr11:57407200-57409400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
20	chr11:57407200-57409400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
21	chr11:57407200-57412200	Weak transcription	Ovary	ovary
22	chr11:57407400-57408600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:57407400-57408600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:57407400-57408600	Flanking Active TSS	NHLF	lung
25	chr11:57407400-57408800	Enhancers	Adipose Nuclei	Adipose
26	chr11:57407400-57408800	Enhancers	Brain Hippocampus Middle	brain
27	chr11:57407400-57408800	Enhancers	Placenta	Placenta
28	chr11:57407400-57409000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:57407400-57412600	Weak transcription	GM12878-XiMat	blood
30	chr11:57407600-57408800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:57407600-57408800	Enhancers	Thymus	Thymus
32	chr11:57407600-57409000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:57407600-57409000	Enhancers	Brain Anterior Caudate	brain
34	chr11:57407600-57409000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:57407600-57409200	Enhancers	Primary T cells from cord blood	blood
36	chr11:57407600-57409200	Weak transcription	Colonic Mucosa	Colon
37	chr11:57407600-57409200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:57407600-57412200	Weak transcription	Spleen	Spleen
41	chr11:57407600-57413000	Weak transcription	Right Ventricle	heart
42	chr11:57407600-57413200	Weak transcription	Esophagus	oesophagus
43	chr11:57407800-57408800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:57407800-57408800	Enhancers	Stomach Smooth Muscle	stomach
45	chr11:57407800-57409000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:57407800-57409000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:57407800-57409000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:57407800-57409000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:57407800-57409000	Enhancers	A549	lung
50	chr11:57407800-57409200	Enhancers	Fetal Intestine Large	intestine

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