Variant report

Variant	rs575569277
Chromosome Location	chr11:63535412-63535413
allele	C/G
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	BHLHE40	chr11:63535076-63535483	K562	blood:	n/a	n/a
2	CTCF	chr11:63535320-63535470	HAc	cerebellar:	n/a	n/a
3	POLR2A	chr11:63535312-63536999	HepG2	liver:	n/a	n/a
4	CTCF	chr11:63535340-63535490	GM12865	blood:	n/a	n/a
5	SIN3AK20	chr11:63535237-63535589	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:63535340-63535490	SK-N-SH_RA	brain:	n/a	n/a
7	RCOR1	chr11:63534892-63535999	K562	blood:	n/a	n/a
8	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
9	MYC	chr11:63535312-63536083	A549	lung:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
10	CHD1	chr11:63535216-63535437	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:63535360-63535510	GM12872	blood:	n/a	n/a
12	BHLHE40	chr11:63535284-63536038	GM12878	blood:	n/a	n/a
13	MAZ	chr11:63535360-63537299	HepG2	liver:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
14	CTBP2	chr11:63535241-63535932	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:63535400-63535550	Caco-2	colon:	n/a	n/a
16	ELF1	chr11:63534928-63536041	GM12878	blood:	n/a	chr11:63535715-63535724
17	YY1	chr11:63535406-63537000	HepG2	liver:	n/a	chr11:63535736-63535747 chr11:63536245-63536259 chr11:63535716-63535727 chr11:63536409-63536423 chr11:63535842-63535856 chr11:63536853-63536862 chr11:63536521-63536535 chr11:63535789-63535803 chr11:63536713-63536727 chr11:63536360-63536371 chr11:63535833-63535847 chr11:63536850-63536859 chr11:63536245-63536254 chr11:63536913-63536927 chr11:63536910-63536924
18	MAZ	chr11:63534904-63537094	GM12878	blood:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
19	POLR2A	chr11:63534985-63535497	ProgFib	skin:	n/a	n/a
20	MAZ	chr11:63533898-63537592	IMR90	lung:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
21	TFAP2C	chr11:63535079-63537088	Hela-S3	cervix:	n/a	chr11:63536284-63536299
22	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
23	ZBTB7A	chr11:63534900-63536107	ECC-1	luminal epithelium:	n/a	chr11:63535627-63535634
24	CTCF	chr11:63535300-63535450	AG10803	skin:	n/a	n/a
25	TCF7L2	chr11:63534896-63535476	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr11:63535163-63535441	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZBTB7A	chr11:63535379-63536040	HepG2	liver:	n/a	chr11:63535627-63535634
28	TBL1XR1	chr11:63535306-63535997	GM12878	blood:	n/a	n/a
29	MAZ	chr11:63534900-63536803	Hela-S3	cervix:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
30	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
31	MAX	chr11:63535329-63535597	K562	blood:	n/a	n/a
32	REST	chr11:63535149-63535480	A549	lung:	n/a	n/a
33	MYC	chr11:63535096-63535496	NB4	blood:	n/a	n/a
34	CTCF	chr11:63535400-63535550	AG10803	skin:	n/a	n/a
35	POLR2A	chr11:63534950-63535841	HUVEC	blood vessel:	n/a	n/a
36	ZNF384	chr11:63535139-63535448	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:63534739-63537668	H1-neurons	neurons:	n/a	n/a
38	GTF2F1	chr11:63535074-63535479	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr11:63535340-63535490	NHLF	lung:	n/a	n/a
40	MAX	chr11:63534747-63535472	A549	lung:	n/a	n/a
41	POLR2A	chr11:63534616-63535439	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr11:63535309-63536445	K562	blood:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
43	POLR2A	chr11:63534690-63535479	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr11:63534650-63537159	HUVEC	blood vessel:	n/a	n/a
45	MAX	chr11:63535046-63535940	NB4	blood:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
46	E2F4	chr11:63535274-63535441	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F6	chr11:63535325-63535466	K562	blood:	n/a	n/a
48	POLR2A	chr11:63534946-63535416	K562	blood:	n/a	n/a
49	POLR2A	chr11:63534775-63535445	SK-N-MC	brain:	n/a	n/a
50	SMC3	chr11:63534947-63536047	Hela-S3	cervix:	n/a	chr11:63535823-63535837 chr11:63535827-63535837

No.	Distal block	Cell Line	Cell type
1	chr11:63448182..63450282-chr11:63533461..63536298,4	MCF-7	breast:
2	chr11:63535254..63537273-chr11:63604196..63606665,2	K562	blood:
3	chr11:63534918..63536804-chr11:63668712..63670378,2	MCF-7	breast:
4	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
5	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
6	chr11:63535119..63536110-chr11:63688278..63689081,3	K562	blood:
7	chr11:63533773..63537846-chr11:63579275..63583196,6	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
ENSG00000167771	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000072518	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	chr11:63534200-63537400	Active TSS	Fetal Brain Female	brain
3	chr11:63534400-63535600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:63534400-63535600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:63534400-63535600	Flanking Active TSS	Dnd41	blood
6	chr11:63534400-63537400	Active TSS	HSMMtube	muscle
7	chr11:63534400-63537600	Active TSS	Brain Angular Gyrus	brain
8	chr11:63534600-63535600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr11:63534600-63535600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr11:63534600-63535800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:63534600-63537000	Active TSS	Ovary	ovary
12	chr11:63534600-63537600	Active TSS	NHDF-Ad	bronchial
13	chr11:63534800-63535600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr11:63534800-63535600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr11:63534800-63535600	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr11:63534800-63535600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr11:63534800-63535600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:63534800-63535600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr11:63534800-63535600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr11:63534800-63535600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr11:63534800-63535600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:63534800-63535600	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr11:63534800-63535600	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr11:63534800-63535600	Flanking Active TSS	Placenta	Placenta
25	chr11:63534800-63535600	Flanking Active TSS	Fetal Thymus	thymus
26	chr11:63534800-63535800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:63534800-63537000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:63534800-63537000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr11:63534800-63537000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:63534800-63537200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:63534800-63537200	Active TSS	Fetal Intestine Large	intestine
32	chr11:63534800-63537400	Active TSS	Primary T cells from cord blood	blood
33	chr11:63534800-63537400	Active TSS	Brain Substantia Nigra	brain
34	chr11:63534800-63537400	Active TSS	Left Ventricle	heart
35	chr11:63534800-63537400	Active TSS	Lung	lung
36	chr11:63534800-63537600	Active TSS	Psoas Muscle	Psoas
37	chr11:63534800-63537600	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:63534800-63537800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:63534800-63538000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:63535000-63535600	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr11:63535000-63535600	Active TSS	Fetal Brain Male	brain
42	chr11:63535000-63535600	Active TSS	Fetal Heart	heart
43	chr11:63535000-63535600	Flanking Active TSS	Stomach Mucosa	stomach
44	chr11:63535000-63535800	Active TSS	Fetal Kidney	kidney
45	chr11:63535000-63536200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:63535000-63536200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:63535000-63536400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:63535000-63536400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:63535000-63536400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:63535000-63536600	Active TSS	Rectal Mucosa Donor 29	rectum

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