Variant report

Variant	rs531898042
Chromosome Location	chr11:59521321-59521322
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	RAD21	chr11:59521310-59522012	HCT-116	colon:	n/a	chr11:59521600-59521619 chr11:59521605-59521615 chr11:59521603-59521616
2	RAD21	chr11:59521247-59523103	SK-N-SH	brain:	n/a	chr11:59521600-59521619 chr11:59521605-59521615 chr11:59521603-59521616
3	CTCF	chr11:59520889-59523923	SK-N-SH	brain:	n/a	chr11:59521599-59521617 chr11:59521601-59521622 chr11:59521604-59521614 chr11:59521602-59521615 chr11:59521602-59521611 chr11:59521600-59521616 chr11:59521602-59521615
4	CTCF	chr11:59521252-59522075	HCT-116	colon:	n/a	chr11:59521599-59521617 chr11:59521601-59521622 chr11:59521604-59521614 chr11:59521602-59521615 chr11:59521602-59521611 chr11:59521600-59521616 chr11:59521602-59521615
5	CBX3	chr11:59521296-59522730	K562	blood:	n/a	n/a
6	CTCF	chr11:59521247-59521360	GM12892	blood:	n/a	n/a
7	CTCF	chr11:59521280-59521360	GM10248	blood:	n/a	n/a
8	CTCF	chr11:59521180-59521330	AG04449	skin:	n/a	n/a
9	CTCF	chr11:59521180-59521330	AG04450	lung:	n/a	n/a
10	NR2F2	chr11:59521318-59521867	K562	blood:	n/a	n/a
11	CTCF	chr11:59520913-59524235	A549	lung:	n/a	chr11:59521599-59521617 chr11:59521601-59521622 chr11:59521604-59521614 chr11:59521602-59521615 chr11:59521602-59521611 chr11:59521600-59521616 chr11:59521602-59521615
12	CTCF	chr11:59521260-59521410	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:59521223-59521370	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr11:59521240-59521390	HPF	lung:	n/a	n/a
15	CTCF	chr11:59521219-59521350	GM19238	blood:	n/a	n/a
16	SMC3	chr11:59521200-59524375	SK-N-SH	brain:	n/a	chr11:59521601-59521615 chr11:59521601-59521609 chr11:59521622-59521630 chr11:59521605-59521615
17	CTCF	chr11:59521280-59521430	HRE	kidney:	n/a	n/a
18	CTCF	chr11:59521180-59521330	WI-38	lung:	n/a	n/a
19	RAD21	chr11:59521261-59522202	IMR90	lung:	n/a	chr11:59521600-59521619 chr11:59521605-59521615 chr11:59521603-59521616
20	RAD21	chr11:59521316-59521824	A549	lung:	n/a	chr11:59521600-59521619 chr11:59521605-59521615 chr11:59521603-59521616
21	CTCF	chr11:59521253-59521344	GM13976	blood:	n/a	n/a
22	MAX	chr11:59521308-59523747	HCT-116	colon:	n/a	n/a
23	RAD21	chr11:59521311-59521950	ECC-1	luminal epithelium:	n/a	chr11:59521600-59521619 chr11:59521605-59521615 chr11:59521603-59521616
24	CTCF	chr11:59521221-59521349	GM19240	blood:	n/a	n/a
25	RAD21	chr11:59521296-59522100	HCT-116	colon:	n/a	chr11:59521600-59521619 chr11:59521605-59521615 chr11:59521603-59521616
26	JUND	chr11:59521305-59524781	SK-N-SH	brain:	n/a	chr11:59523291-59523302
27	MAX	chr11:59521308-59523882	HCT-116	colon:	n/a	n/a
28	NRF1	chr11:59521304-59523164	SK-N-SH	brain:	n/a	chr11:59522822-59522836 chr11:59522824-59522835 chr11:59521608-59521617
29	RAD21	chr11:59521303-59521993	A549	lung:	n/a	chr11:59521600-59521619 chr11:59521605-59521615 chr11:59521603-59521616

No.	Distal block	Cell Line	Cell type
1	chr11:59521037..59522134-chr11:59569735..59571070,7	MCF-7	breast:
2	chr11:59521192..59521888-chr11:59568592..59569530,2	MCF-7	breast:
3	chr11:59521183..59522129-chr11:59897665..59898553,3	K562	blood:
4	chr11:59520214..59524923-chr11:59576549..59579669,4	MCF-7	breast:
5	chr11:59521189..59522029-chr11:59569757..59570741,3	K562	blood:
6	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
7	chr11:59520634..59522259-chr11:59568757..59570737,15	MCF-7	breast:
8	chr11:59520935..59525781-chr11:59552803..59557885,8	MCF-7	breast:
9	chr11:59513939..59516832-chr11:59518797..59521533,2	K562	blood:
10	chr11:59519722..59526041-chr11:59575307..59578961,7	MCF-7	breast:
11	chr11:59520651..59522378-chr11:59577196..59579780,2	K562	blood:

Variant related genes	Relation type
STX3	TF binding region
ENSG00000166900	Chromatin interaction
ENSG00000166902	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000255538	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752406	chr11:59490424-59529524	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
2	esv2755215	chr11:59515524-59529524	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
3	nsv1046086	chr11:59520424-59561455	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59519000-59521600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr11:59519600-59521600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:59520000-59521600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:59521000-59521400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:59521000-59521400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:59521000-59521600	Enhancers	Colonic Mucosa	Colon
7	chr11:59521000-59521600	Bivalent Enhancer	Fetal Brain Male	brain
8	chr11:59521000-59521600	Enhancers	Placenta	Placenta
9	chr11:59521200-59521400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:59521200-59521400	Enhancers	Primary B cells from cord blood	blood
11	chr11:59521200-59521400	Flanking Active TSS	Fetal Intestine Large	intestine
12	chr11:59521200-59521400	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr11:59521200-59521400	Enhancers	Stomach Smooth Muscle	stomach
14	chr11:59521200-59521600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:59521200-59521600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:59521200-59521600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr11:59521200-59521600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:59521200-59521600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:59521200-59521600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:59521200-59521600	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:59521200-59521600	Enhancers	Brain Hippocampus Middle	brain
22	chr11:59521200-59521600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr11:59521200-59521600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr11:59521200-59521600	Enhancers	K562	blood
25	chr11:59521200-59522000	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:59521200-59523600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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