Variant report

Variant	rs532713248
Chromosome Location	chr11:63535220-63535221
allele	A/C
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	RCOR1	chr11:63535085-63535403	K562	blood:	n/a	n/a
2	POLR2A	chr11:63534934-63535330	HepG2	liver:	n/a	n/a
3	TAF7	chr11:63535019-63535350	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3AK20	chr11:63534834-63535234	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr11:63535076-63535483	K562	blood:	n/a	n/a
6	MAX	chr11:63534812-63535381	SK-N-SH	brain:	n/a	n/a
7	IRF1	chr11:63534928-63535296	K562	blood:	n/a	chr11:63535210-63535219
8	SP1	chr11:63534857-63535336	H1-hESC	embryonic stem cell:	n/a	chr11:63535059-63535070 chr11:63535059-63535071 chr11:63535059-63535071
9	POLR2A	chr11:63535094-63535312	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3AK20	chr11:63535014-63535309	A549	lung:	n/a	n/a
11	RCOR1	chr11:63534889-63535347	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:63534938-63535269	HepG2	liver:	n/a	n/a
13	RCOR1	chr11:63534892-63535999	K562	blood:	n/a	n/a
14	RAD21	chr11:63534806-63536230	SK-N-SH	brain:	n/a	chr11:63535823-63535837 chr11:63535823-63535832 chr11:63535825-63535838 chr11:63535666-63535679 chr11:63535822-63535841 chr11:63535476-63535488
15	TCF12	chr11:63534925-63535403	ECC-1	luminal epithelium:	n/a	chr11:63535212-63535221
16	CHD1	chr11:63535216-63535437	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF12	chr11:63534823-63535346	A549	lung:	n/a	chr11:63535212-63535221
18	TAF1	chr11:63534847-63535348	H1-hESC	embryonic stem cell:	n/a	n/a
19	ELF1	chr11:63534928-63536041	GM12878	blood:	n/a	chr11:63535715-63535724
20	MAZ	chr11:63534904-63537094	GM12878	blood:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
21	POLR2A	chr11:63534985-63535497	ProgFib	skin:	n/a	n/a
22	MAZ	chr11:63533898-63537592	IMR90	lung:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
23	TFAP2C	chr11:63535079-63537088	Hela-S3	cervix:	n/a	chr11:63536284-63536299
24	CTCF	chr11:63535180-63535330	RPTEC	kidney:	n/a	n/a
25	CTCF	chr11:63534506-63536859	A549	lung:	n/a	chr11:63536572-63536585 chr11:63535824-63535837 chr11:63536692-63536705 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63536570-63536588 chr11:63535824-63535833
26	TBP	chr11:63535024-63535282	Hela-S3	cervix:	n/a	n/a
27	ZBTB7A	chr11:63534900-63536107	ECC-1	luminal epithelium:	n/a	chr11:63535627-63535634
28	TCF7L2	chr11:63534896-63535476	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr11:63535163-63535441	H1-hESC	embryonic stem cell:	n/a	n/a
30	STAT3	chr11:63535018-63535296	MCF10A-Er-Src	breast:	n/a	chr11:63535200-63535211
31	CTCF	chr11:63535140-63535290	NHDF-neo	bronchial:	n/a	n/a
32	FOS	chr11:63535084-63535273	MCF10A-Er-Src	breast:	n/a	chr11:63535209-63535220
33	POLR2A	chr11:63535034-63535248	HepG2	liver:	n/a	n/a
34	MAZ	chr11:63534900-63536803	Hela-S3	cervix:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
35	SIN3AK20	chr11:63534933-63535395	PFSK-1	brain:	n/a	n/a
36	SIN3AK20	chr11:63534993-63535288	A549	lung:	n/a	n/a
37	REST	chr11:63534517-63537808	H1-neurons	neurons:	n/a	chr11:63535702-63535712 chr11:63535771-63535781 chr11:63535790-63535803 chr11:63536356-63536366 chr11:63535815-63535828 chr11:63535778-63535791 chr11:63535775-63535788 chr11:63534588-63534606
38	POLR2A	chr11:63534799-63535335	H1-hESC	embryonic stem cell:	n/a	n/a
39	REST	chr11:63535149-63535480	A549	lung:	n/a	n/a
40	TBP	chr11:63535121-63535285	K562	blood:	n/a	n/a
41	JUND	chr11:63534954-63535384	K562	blood:	n/a	n/a
42	SRF	chr11:63535147-63535359	GM12878	blood:	n/a	n/a
43	HEY1	chr11:63534883-63535309	HepG2	liver:	n/a	n/a
44	MYC	chr11:63535096-63535496	NB4	blood:	n/a	n/a
45	POLR2A	chr11:63534950-63535841	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr11:63534794-63535312	ECC-1	luminal epithelium:	n/a	n/a
47	MAFK	chr11:63535064-63535356	K562	blood:	n/a	chr11:63535212-63535221
48	UBTF	chr11:63535138-63535311	K562	blood:	n/a	n/a
49	ZNF384	chr11:63535139-63535448	GM12878	blood:	n/a	n/a
50	TAF1	chr11:63534870-63535377	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63448182..63450282-chr11:63533461..63536298,4	MCF-7	breast:
2	chr11:63534918..63536804-chr11:63668712..63670378,2	MCF-7	breast:
3	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
4	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
5	chr11:63535119..63536110-chr11:63688278..63689081,3	K562	blood:
6	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
7	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
8	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
9	chr11:63535119..63536047-chr11:63580566..63581171,3	HCT-116	colon:
10	chr11:63534031..63536529-chr11:63677173..63679815,2	K562	blood:

Variant related genes	Relation type
C11orf95	TF binding region
ENSG00000133318	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv1821734	chr11:63533300-63537509	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3322085	chr11:63534376-63538774	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3431841	chr11:63535026-63538474	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3426231	chr11:63535201-63537749	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr11:63532800-63535600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
2	chr11:63534200-63535400	Flanking Active TSS	HUVEC	blood vessel
3	chr11:63534200-63537400	Active TSS	Fetal Brain Female	brain
4	chr11:63534400-63535400	Flanking Active TSS	HSMM	muscle
5	chr11:63534400-63535600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:63534400-63535600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:63534400-63535600	Flanking Active TSS	Dnd41	blood
8	chr11:63534400-63537400	Active TSS	HSMMtube	muscle
9	chr11:63534400-63537600	Active TSS	Brain Angular Gyrus	brain
10	chr11:63534600-63535400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:63534600-63535600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr11:63534600-63535600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:63534600-63535800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr11:63534600-63537000	Active TSS	Ovary	ovary
15	chr11:63534600-63537600	Active TSS	NHDF-Ad	bronchial
16	chr11:63534800-63535400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:63534800-63535400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr11:63534800-63535400	Flanking Active TSS	Liver	Liver
19	chr11:63534800-63535400	Active TSS	Colonic Mucosa	Colon
20	chr11:63534800-63535400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr11:63534800-63535600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:63534800-63535600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:63534800-63535600	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr11:63534800-63535600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr11:63534800-63535600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr11:63534800-63535600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr11:63534800-63535600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr11:63534800-63535600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:63534800-63535600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:63534800-63535600	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr11:63534800-63535600	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr11:63534800-63535600	Flanking Active TSS	Placenta	Placenta
33	chr11:63534800-63535600	Flanking Active TSS	Fetal Thymus	thymus
34	chr11:63534800-63535800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr11:63534800-63537000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:63534800-63537000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:63534800-63537000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:63534800-63537200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:63534800-63537200	Active TSS	Fetal Intestine Large	intestine
40	chr11:63534800-63537400	Active TSS	Primary T cells from cord blood	blood
41	chr11:63534800-63537400	Active TSS	Brain Substantia Nigra	brain
42	chr11:63534800-63537400	Active TSS	Left Ventricle	heart
43	chr11:63534800-63537400	Active TSS	Lung	lung
44	chr11:63534800-63537600	Active TSS	Psoas Muscle	Psoas
45	chr11:63534800-63537600	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr11:63534800-63537800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr11:63534800-63538000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:63535000-63535400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
49	chr11:63535000-63535600	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr11:63535000-63535600	Active TSS	Fetal Brain Male	brain

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