Variant report

Variant	rs555698350
Chromosome Location	chr11:63581450-63581451
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	POLR2A	chr11:63580528-63581482	MCF10A-Er-Src	breast:	n/a	n/a
2	ZBTB7A	chr11:63581255-63581782	K562	blood:	n/a	chr11:63581567-63581576
3	REST	chr11:63580337-63582275	H1-neurons	neurons:	n/a	chr11:63581580-63581593 chr11:63581442-63581455 chr11:63581574-63581587 chr11:63581319-63581332
4	MAX	chr11:63580574-63581628	H1-hESC	embryonic stem cell:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
5	RCOR1	chr11:63581179-63581632	GM12878	blood:	n/a	n/a
6	ELF1	chr11:63581027-63581921	GM12878	blood:	n/a	chr11:63581306-63581315 chr11:63581322-63581334 chr11:63581305-63581316 chr11:63581127-63581139 chr11:63581304-63581317
7	ELF1	chr11:63581098-63581683	HepG2	liver:	n/a	chr11:63581306-63581315 chr11:63581322-63581334 chr11:63581305-63581316 chr11:63581127-63581139 chr11:63581304-63581317
8	ELK1	chr11:63581155-63581620	GM12878	blood:	n/a	n/a
9	GABPA	chr11:63581347-63581684	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:63581050-63581827	U87	brain:	n/a	n/a
11	MAX	chr11:63581106-63581669	GM12878	blood:	n/a	chr11:63581504-63581514
12	SIN3A	chr11:63581190-63581669	GM12878	blood:	n/a	chr11:63581580-63581593
13	MAZ	chr11:63580253-63581942	K562	blood:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
14	RAD21	chr11:63581139-63581724	IMR90	lung:	n/a	n/a
15	POLR2A	chr11:63580588-63581691	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:63580667-63581564	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:63580097-63581875	HepG2	liver:	n/a	n/a
18	ZNF143	chr11:63580697-63581677	GM12878	blood:	n/a	chr11:63581327-63581337
19	RUNX3	chr11:63580851-63581776	GM12878	blood:	n/a	n/a
20	TBP	chr11:63580577-63582115	H1-hESC	embryonic stem cell:	n/a	n/a
21	GABPA	chr11:63581268-63581832	MCF-7	breast:	n/a	chr11:63581725-63581734
22	POLR2A	chr11:63580642-63581780	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:63580310-63582417	SK-N-MC	brain:	n/a	n/a
24	ELF1	chr11:63580730-63581804	K562	blood:	n/a	chr11:63581306-63581315 chr11:63581322-63581334 chr11:63581305-63581316 chr11:63581127-63581139 chr11:63581304-63581317
25	POLR2A	chr11:63580644-63581830	ProgFib	skin:	n/a	n/a
26	RFX5	chr11:63581260-63581936	Hela-S3	cervix:	n/a	n/a
27	BHLHE40	chr11:63580589-63581657	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:63580574-63582320	GM12878	blood:	n/a	n/a
29	ZBTB7A	chr11:63581000-63581883	ECC-1	luminal epithelium:	n/a	chr11:63581567-63581576
30	TCF7L2	chr11:63580598-63581720	HCT-116	colon:	n/a	n/a
31	POLR2A	chr11:63580410-63582089	K562	blood:	n/a	n/a
32	ZKSCAN1	chr11:63581171-63581563	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:63580501-63581840	HUVEC	blood vessel:	n/a	n/a
34	E2F6	chr11:63579940-63581635	K562	blood:	n/a	chr11:63580762-63580774 chr11:63581426-63581440 chr11:63581429-63581443
35	MAX	chr11:63580316-63582099	ECC-1	luminal epithelium:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
36	POLR2A	chr11:63580553-63581465	A549	lung:	n/a	n/a
37	HA-E2F1	chr11:63580203-63581657	MCF-7	breast:	n/a	chr11:63581078-63581089 chr11:63580762-63580774 chr11:63581426-63581440 chr11:63581429-63581443
38	MAX	chr11:63580293-63581839	HepG2	liver:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
39	MYC	chr11:63581230-63581599	K562	blood:	n/a	chr11:63581504-63581514
40	MAX	chr11:63580232-63581859	A549	lung:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
41	POLR2A	chr11:63580552-63582008	GM18526	blood:	n/a	n/a
42	GABPA	chr11:63581232-63581765	A549	lung:	n/a	chr11:63581725-63581734
43	RELA	chr11:63580603-63581521	GM15510	blood:	n/a	chr11:63580664-63580673 chr11:63580664-63580673
44	RUNX3	chr11:63581410-63581801	GM12878	blood:	n/a	n/a
45	MAZ	chr11:63580254-63582692	IMR90	lung:	n/a	chr11:63580766-63580776 chr11:63581079-63581089 chr11:63580907-63580917 chr11:63581504-63581514
46	POLR2A	chr11:63580802-63581527	GM12892	blood:	n/a	n/a
47	ELF1	chr11:63581080-63581496	K562	blood:	n/a	chr11:63581306-63581315 chr11:63581322-63581334 chr11:63581305-63581316 chr11:63581127-63581139 chr11:63581304-63581317
48	POLR2A	chr11:63580554-63581773	NB4	blood:	n/a	n/a
49	POLR2A	chr11:63580532-63581721	A549	lung:	n/a	n/a
50	TAF1	chr11:63580435-63581471	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63581433-63581483	BJ	skin:	n/a
2	chr11:63581433-63581483	H1-hESC	embryonic stem cell:	embryo
3	chr11:63581433-63581483	RPTEC	kidney:	n/a
4	chr11:63581433-63581483	NB4	blood:	n/a
5	chr11:63581433-63581483	ovcar-3	ovarian:	n/a
6	chr11:63581433-63581483	NT2-D1	testis:	n/a
7	chr11:63581433-63581483	SK-N-SH	brain:	n/a
8	chr11:63581433-63581483	HNPCEpiC	eye:	n/a
9	chr11:63581433-63581483	HCF	heart:	n/a
10	chr11:63581433-63581483	Jurkat	blood:	n/a
11	chr11:63581433-63581483	PFSK-1	brain:	n/a
12	chr11:63581433-63581483	NH-A	brain:	n/a
13	chr11:63581433-63581483	ECC-1	luminal epithelium:	n/a
14	chr11:63581433-63581483	AG09309	skin:	n/a
15	chr11:63581433-63581483	HCPEpiC	choroid plexus:	n/a
16	chr11:63581433-63581483	AG04449	skin:	fetal
17	chr11:63581433-63581483	HEEpiC	esophagus:	n/a
18	chr11:63581433-63581483	GM19239	blood:	n/a
19	chr11:63581433-63581483	HIPEpiC	eye:	n/a
20	chr11:63581433-63581483	Caco-2	colon:	n/a
21	chr11:63581433-63581483	CMK	blood:	n/a
22	chr11:63581433-63581483	GM12892	blood:	n/a
23	chr11:63581433-63581483	K562	blood:	n/a
24	chr11:63581433-63581483	AG10803	skin:	n/a
25	chr11:63581433-63581483	AoSMC	blood vessel:	n/a
26	chr11:63581433-63581483	HL-60	blood:	n/a
27	chr11:63581433-63581483	Hepatocyte	liver:	n/a
28	chr11:63581433-63581483	HMEC	breast:	n/a
29	chr11:63581433-63581483	NHBE	bronchial:	n/a
30	chr11:63581433-63581483	GM12878	blood:	n/a
31	chr11:63581433-63581483	SK-N-MC	brain:	n/a
32	chr11:63581433-63581483	HCT-116	colon:	n/a
33	chr11:63581433-63581483	BE2_C	brain:	n/a
34	chr11:63581433-63581483	Hela-S3	cervix:	n/a
35	chr11:63581433-63581483	ProgFib	skin:	n/a
36	chr11:63581433-63581483	PANC-1	pancreas:	n/a
37	chr11:63581433-63581483	MCF-7	breast:	n/a
38	chr11:63581433-63581483	NHDF-neo	bronchial:	n/a
39	chr11:63581433-63581483	GM12891	blood:	n/a
40	chr11:63581433-63581483	MCF10A-Er-Src	breast:	n/a
41	chr11:63581433-63581483	HCM	heart:	n/a
42	chr11:63581433-63581483	HRPEpiC	eye:	n/a
43	chr11:63581433-63581483	SK-N-SH_RA	brain:	n/a
44	chr11:63581433-63581483	HEK293	kidney:	embryo
45	chr11:63581433-63581483	A549	lung:	n/a
46	chr11:63581433-63581483	PrEC	prostate:	n/a
47	chr11:63581433-63581483	HRE	kidney:	n/a
48	chr11:63581433-63581483	HRCEpiC	kidney:	n/a
49	chr11:63581433-63581483	HUVEC	blood vessel:	n/a
50	chr11:63581433-63581483	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
2	chr11:63580495..63581496-chr14:105956780..105958017,3	Hela-S3	cervix:
3	chr11:63580937..63581636-chr4:166033563..166034366,2	Hela-S3	cervix:
4	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
5	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
6	chr11:63570205..63572019-chr11:63580900..63582897,2	MCF-7	breast:
7	chr11:63581119..63583081-chr11:63638472..63640533,2	K562	blood:
8	chr11:63581060..63583015-chr11:63654229..63655873,2	MCF-7	breast:
9	chr11:63580161..63582030-chr11:63668287..63670430,2	MCF-7	breast:
10	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
11	chr11:63448971..63451551-chr11:63580454..63582597,3	K562	blood:
12	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
13	chr11:63448233..63451551-chr11:63578408..63582128,5	K562	blood:
14	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
15	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:
16	chr11:63437085..63438927-chr11:63580871..63582709,2	MCF-7	breast:
17	chr11:63535403..63536236-chr11:63580885..63581952,3	MCF-7	breast:
18	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
19	chr11:63579430..63582335-chr11:63993670..63995611,2	K562	blood:
20	chr11:63535333..63536207-chr11:63581006..63582322,3	MCF-7	breast:
21	chr11:62520403..62522717-chr11:63579678..63581641,2	MCF-7	breast:
22	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:
23	chr11:63580678..63581483-chrX:19002609..19003358,2	Hela-S3	cervix:
24	chr11:63580299..63582440-chr11:63655697..63658299,3	K562	blood:

Variant related genes	Relation type
C11orf84	TF binding region
C11orf84	CpG island
ENSG00000072518	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000149743	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000044446	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000170088	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000255651	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	chr11:63580200-63581600	Active TSS	Psoas Muscle	Psoas
12	chr11:63580200-63582000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:63580200-63582200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:63580200-63582200	Active TSS	HepG2	liver
15	chr11:63580200-63582600	Active TSS	Right Atrium	heart
16	chr11:63580400-63581800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:63580400-63581800	Active TSS	Aorta	Aorta
18	chr11:63580400-63581800	Active TSS	Brain Angular Gyrus	brain
19	chr11:63580400-63581800	Active TSS	Brain Anterior Caudate	brain
20	chr11:63580400-63581800	Active TSS	Brain Hippocampus Middle	brain
21	chr11:63580400-63581800	Active TSS	Fetal Brain Female	brain
22	chr11:63580400-63581800	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:63580400-63582000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:63580400-63582000	Active TSS	Fetal Heart	heart
25	chr11:63580400-63582000	Active TSS	Gastric	stomach
26	chr11:63580400-63582200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:63580400-63582200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:63580400-63582200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:63580400-63582200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:63580400-63582200	Active TSS	Lung	lung
31	chr11:63580400-63582200	Active TSS	A549	lung
32	chr11:63580400-63582200	Active TSS	NHDF-Ad	bronchial
33	chr11:63580400-63582400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:63580400-63582800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:63580600-63581600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:63580600-63581600	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr11:63580600-63581600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:63580600-63581600	Active TSS	Pancreas	Pancrea
39	chr11:63580600-63581600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr11:63580600-63581600	Active TSS	Right Ventricle	heart
41	chr11:63580600-63581600	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr11:63580600-63581600	Active TSS	Thymus	Thymus
43	chr11:63580600-63581600	Active TSS	K562	blood
44	chr11:63580600-63581800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:63580600-63581800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:63580600-63581800	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr11:63580600-63581800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr11:63580600-63581800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr11:63580600-63581800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:63580600-63581800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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