Variant report

Variant	rs529557324
Chromosome Location	chr11:63581729-63581730
allele	G/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	ZBTB7A	chr11:63581255-63581782	K562	blood:	n/a	chr11:63581567-63581576
2	REST	chr11:63580337-63582275	H1-neurons	neurons:	n/a	chr11:63581580-63581593 chr11:63581442-63581455 chr11:63581574-63581587 chr11:63581319-63581332
3	ELF1	chr11:63581027-63581921	GM12878	blood:	n/a	chr11:63581306-63581315 chr11:63581322-63581334 chr11:63581305-63581316 chr11:63581127-63581139 chr11:63581304-63581317
4	POLR2A	chr11:63581050-63581827	U87	brain:	n/a	n/a
5	MAZ	chr11:63580253-63581942	K562	blood:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
6	POLR2A	chr11:63580097-63581875	HepG2	liver:	n/a	n/a
7	RUNX3	chr11:63580851-63581776	GM12878	blood:	n/a	n/a
8	TBP	chr11:63580577-63582115	H1-hESC	embryonic stem cell:	n/a	n/a
9	GABPA	chr11:63581268-63581832	MCF-7	breast:	n/a	chr11:63581725-63581734
10	POLR2A	chr11:63580642-63581780	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:63580310-63582417	SK-N-MC	brain:	n/a	n/a
12	ELF1	chr11:63580730-63581804	K562	blood:	n/a	chr11:63581306-63581315 chr11:63581322-63581334 chr11:63581305-63581316 chr11:63581127-63581139 chr11:63581304-63581317
13	POLR2A	chr11:63580644-63581830	ProgFib	skin:	n/a	n/a
14	RFX5	chr11:63581260-63581936	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:63580574-63582320	GM12878	blood:	n/a	n/a
16	RAD21	chr11:63581591-63581977	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZBTB7A	chr11:63581000-63581883	ECC-1	luminal epithelium:	n/a	chr11:63581567-63581576
18	TBL1XR1	chr11:63581461-63582068	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:63580410-63582089	K562	blood:	n/a	n/a
20	POLR2A	chr11:63580501-63581840	HUVEC	blood vessel:	n/a	n/a
21	MAX	chr11:63580316-63582099	ECC-1	luminal epithelium:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
22	MAX	chr11:63580293-63581839	HepG2	liver:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
23	MAX	chr11:63580232-63581859	A549	lung:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
24	POLR2A	chr11:63580552-63582008	GM18526	blood:	n/a	n/a
25	CTCF	chr11:63581640-63581790	Caco-2	colon:	n/a	chr11:63581719-63581732
26	GABPA	chr11:63581232-63581765	A549	lung:	n/a	chr11:63581725-63581734
27	RUNX3	chr11:63581410-63581801	GM12878	blood:	n/a	n/a
28	MAZ	chr11:63580254-63582692	IMR90	lung:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
29	CHD1	chr11:63581653-63582154	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:63580554-63581773	NB4	blood:	n/a	n/a
31	POLR2A	chr11:63580605-63581782	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:63580448-63582106	Raji	blood:	n/a	n/a
33	STAT5A	chr11:63581577-63582011	GM12878	blood:	n/a	chr11:63581930-63581942 chr11:63581777-63581789 chr11:63581647-63581659 chr11:63581965-63581977
34	POLR2A	chr11:63580163-63581833	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:63580535-63581775	GM15510	blood:	n/a	n/a
36	POLR2A	chr11:63580529-63582084	GM18505	blood:	n/a	n/a
37	POLR2A	chr11:63580362-63581841	Hela-S3	cervix:	n/a	n/a
38	SIN3AK20	chr11:63581376-63581917	H1-hESC	embryonic stem cell:	n/a	n/a
39	MXI1	chr11:63581464-63582203	GM12878	blood:	n/a	n/a
40	ELF1	chr11:63581008-63581763	MCF-7	breast:	n/a	chr11:63581306-63581315 chr11:63581322-63581334 chr11:63581305-63581316 chr11:63581127-63581139 chr11:63581304-63581317
41	HEY1	chr11:63581246-63581733	HepG2	liver:	n/a	n/a
42	HMGN3	chr11:63580528-63581847	K562	blood:	n/a	n/a
43	RELA	chr11:63580436-63582154	GM12891	blood:	n/a	chr11:63580664-63580673 chr11:63580664-63580673
44	POLR2A	chr11:63580510-63581971	GM19193	blood:	n/a	n/a
45	CHD2	chr11:63580407-63582035	Hela-S3	cervix:	n/a	chr11:63580938-63580948 chr11:63581081-63581091
46	YY1	chr11:63580471-63581822	HepG2	liver:	n/a	chr11:63580914-63580925 chr11:63581725-63581739
47	POLR2A	chr11:63581454-63582032	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr11:63581312-63581773	HCT-116	colon:	n/a	n/a
49	MAX	chr11:63580521-63581861	SK-N-SH	brain:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
50	PML	chr11:63580594-63582222	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
2	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
3	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
4	chr11:63570205..63572019-chr11:63580900..63582897,2	MCF-7	breast:
5	chr11:63581119..63583081-chr11:63638472..63640533,2	K562	blood:
6	chr11:63581060..63583015-chr11:63654229..63655873,2	MCF-7	breast:
7	chr11:63580161..63582030-chr11:63668287..63670430,2	MCF-7	breast:
8	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
9	chr11:63448971..63451551-chr11:63580454..63582597,3	K562	blood:
10	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
11	chr11:63581485..63582340-chr5:43483433..43484029,2	Hela-S3	cervix:
12	chr11:63448233..63451551-chr11:63578408..63582128,5	K562	blood:
13	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
14	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:
15	chr11:63437085..63438927-chr11:63580871..63582709,2	MCF-7	breast:
16	chr11:63535403..63536236-chr11:63580885..63581952,3	MCF-7	breast:
17	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
18	chr11:63579430..63582335-chr11:63993670..63995611,2	K562	blood:
19	chr11:63535333..63536207-chr11:63581006..63582322,3	MCF-7	breast:
20	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:
21	chr11:63580299..63582440-chr11:63655697..63658299,3	K562	blood:

Variant related genes	Relation type
C11orf84	TF binding region
ENSG00000168005	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000149743	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000149761	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3413647	chr11:63550425-63582789	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv33730	chr11:63581200-63586085	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63579200-63581800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr11:63579400-63582200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:63579600-63581800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:63579800-63582600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:63580000-63581800	Active TSS	Brain Substantia Nigra	brain
6	chr11:63580000-63582000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:63580000-63582000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:63580000-63582000	Active TSS	Fetal Kidney	kidney
9	chr11:63580000-63582000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:63580000-63582200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:63580200-63582000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:63580200-63582200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:63580200-63582200	Active TSS	HepG2	liver
14	chr11:63580200-63582600	Active TSS	Right Atrium	heart
15	chr11:63580400-63581800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:63580400-63581800	Active TSS	Aorta	Aorta
17	chr11:63580400-63581800	Active TSS	Brain Angular Gyrus	brain
18	chr11:63580400-63581800	Active TSS	Brain Anterior Caudate	brain
19	chr11:63580400-63581800	Active TSS	Brain Hippocampus Middle	brain
20	chr11:63580400-63581800	Active TSS	Fetal Brain Female	brain
21	chr11:63580400-63581800	Active TSS	Rectal Smooth Muscle	rectum
22	chr11:63580400-63582000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:63580400-63582000	Active TSS	Fetal Heart	heart
24	chr11:63580400-63582000	Active TSS	Gastric	stomach
25	chr11:63580400-63582200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:63580400-63582200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:63580400-63582200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:63580400-63582200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:63580400-63582200	Active TSS	Lung	lung
30	chr11:63580400-63582200	Active TSS	A549	lung
31	chr11:63580400-63582200	Active TSS	NHDF-Ad	bronchial
32	chr11:63580400-63582400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:63580400-63582800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:63580600-63581800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:63580600-63581800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:63580600-63581800	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:63580600-63581800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr11:63580600-63581800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr11:63580600-63581800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:63580600-63581800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:63580600-63581800	Active TSS	Brain Cingulate Gyrus	brain
42	chr11:63580600-63581800	Active TSS	Duodenum Mucosa	Duodenum
43	chr11:63580600-63581800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:63580600-63581800	Active TSS	Esophagus	oesophagus
45	chr11:63580600-63581800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr11:63580600-63581800	Active TSS	Fetal Intestine Small	intestine
47	chr11:63580600-63581800	Active TSS	Fetal Lung	lung
48	chr11:63580600-63581800	Active TSS	Left Ventricle	heart
49	chr11:63580600-63581800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr11:63580600-63581800	Active TSS	Small Intestine	intestine

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