Variant report

Variant	rs537602
Chromosome Location	chr11:62448576-62448577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:62448257-62448614	IMR90	lung:	n/a	n/a
2	CTCF	chr11:62448234-62448748	HepG2	liver:	n/a	n/a
3	BRCA1	chr11:62448339-62448637	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr11:62448272-62448652	GM12878	blood:	n/a	n/a
5	CEBPB	chr11:62448263-62448636	Hela-S3	cervix:	n/a	n/a
6	JUND	chr11:62448282-62448753	HepG2	liver:	n/a	n/a
7	CTCF	chr11:62448225-62448742	MCF-7	breast:	n/a	n/a
8	SMC3	chr11:62448271-62448629	HepG2	liver:	n/a	n/a
9	CTCF	chr11:62448327-62448635	K562	blood:	n/a	n/a
10	CTCF	chr11:62448178-62448752	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:62448109-62448685	SK-N-SH	brain:	n/a	n/a
12	USF2	chr11:62448330-62448582	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr11:62448500-62448650	HAc	cerebellar:	n/a	n/a
14	CTCF	chr11:62448440-62448590	HEK293	kidney:	n/a	n/a
15	EBF1	chr11:62448295-62448591	GM12878	blood:	n/a	n/a
16	CEBPB	chr11:62448276-62448648	HepG2	liver:	n/a	n/a
17	RAD21	chr11:62448241-62448632	SK-N-SH_RA	brain:	n/a	n/a
18	CEBPB	chr11:62448275-62448635	A549	lung:	n/a	n/a
19	SMC3	chr11:62448269-62448622	GM12878	blood:	n/a	n/a
20	SMC3	chr11:62448264-62448668	Hela-S3	cervix:	n/a	n/a
21	MYC	chr11:62448400-62448606	MCF10A-Er-Src	breast:	n/a	n/a
22	ZNF143	chr11:62448290-62448625	GM12878	blood:	n/a	n/a
23	CEBPB	chr11:62448282-62448605	K562	blood:	n/a	n/a
24	CTCF	chr11:62448571-62448579	HepG2	liver:	n/a	n/a
25	TAF1	chr11:62448334-62448616	SK-N-SH	brain:	n/a	n/a
26	FOS	chr11:62448404-62448604	MCF10A-Er-Src	breast:	n/a	n/a
27	MYBL2	chr11:62448096-62448770	HepG2	liver:	n/a	n/a
28	MAFK	chr11:62448393-62448609	K562	blood:	n/a	n/a
29	JUND	chr11:62448300-62448670	K562	blood:	n/a	n/a
30	RAD21	chr11:62448165-62448715	HepG2	liver:	n/a	n/a
31	CTCF	chr11:62448327-62448604	HepG2	liver:	n/a	n/a
32	CTCF	chr11:62448243-62448623	SK-N-SH_RA	brain:	n/a	n/a
33	TBP	chr11:62448352-62448585	Hela-S3	cervix:	n/a	n/a
34	RAD21	chr11:62448266-62448665	IMR90	lung:	n/a	n/a
35	ZNF143	chr11:62448293-62448642	K562	blood:	n/a	n/a
36	RAD21	chr11:62448184-62448641	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:62448312-62448590	NHEK	skin:	n/a	n/a
38	POU2F2	chr11:62448203-62448654	GM12878	blood:	n/a	chr11:62448398-62448409 chr11:62448399-62448409 chr11:62448398-62448411
39	CTCF	chr11:62448209-62448654	K562	blood:	n/a	n/a
40	RAD21	chr11:62448221-62448694	A549	lung:	n/a	n/a
41	CTCF	chr11:62448326-62448670	K562	blood:	n/a	n/a
42	CTCF	chr11:62448294-62448579	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr11:62448356-62448589	Hela-S3	cervix:	n/a	n/a
44	POU2F2	chr11:62448150-62448634	GM12891	blood:	n/a	chr11:62448398-62448409 chr11:62448399-62448409 chr11:62448398-62448411
45	RAD21	chr11:62448147-62448745	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:62448216-62448836	HCT-116	colon:	n/a	n/a
47	RAD21	chr11:62448291-62448714	ECC-1	luminal epithelium:	n/a	n/a
48	RAD21	chr11:62448334-62448581	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:62448296-62448622	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr11:62448238-62448654	T-47D	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62443864..62449143-chr11:62570867..62574736,5	MCF-7	breast:
2	chr11:62447954..62449142-chr11:62461872..62462803,4	MCF-7	breast:
3	chr11:62339974..62343757-chr11:62445815..62448618,4	MCF-7	breast:
4	chr11:62361059..62361751-chr11:62448094..62448903,2	MCF-7	breast:
5	chr11:62445054..62448802-chr11:62471640..62476934,8	MCF-7	breast:
6	chr11:62446838..62449005-chr11:62457383..62459679,3	MCF-7	breast:
7	chr11:62446914..62448860-chr11:62589013..62591491,2	K562	blood:
8	chr11:62388078..62389661-chr11:62446951..62449183,2	MCF-7	breast:
9	chr11:62448249..62448920-chr11:62489238..62489743,2	MCF-7	breast:
10	chr11:62448488..62450140-chr11:62454994..62456596,2	K562	blood:
11	chr11:62444508..62449947-chr11:62472248..62477977,7	K562	blood:
12	chr11:62444275..62448625-chr11:62455839..62459957,10	MCF-7	breast:
13	chr11:62162031..62162876-chr11:62448277..62448945,2	K562	blood:

No data

Variant related genes	Relation type
UBXN1	TF binding region
ENSG00000168000	Chromatin interaction
ENSG00000177363	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000162231	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17157390	1.00[MEX][hapmap]
rs17157391	1.00[MEX][hapmap]
rs2956992	1.00[MEX][hapmap]
rs4343028	1.00[MEX][hapmap]
rs631714	1.00[MEX][hapmap]
rs7104235	1.00[MEX][hapmap]
rs7114249	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
7	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62446800-62455400	Weak transcription	Gastric	stomach
2	chr11:62447000-62448800	Enhancers	Placenta	Placenta
3	chr11:62447000-62450000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:62447000-62455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:62447000-62457400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:62447000-62457600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:62447000-62457800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:62447000-62458000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:62447000-62472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:62447200-62448600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:62447200-62448600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:62447200-62448600	Weak transcription	Fetal Kidney	kidney
13	chr11:62447200-62448800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr11:62447200-62448800	Enhancers	Fetal Muscle Leg	muscle
15	chr11:62447200-62448800	Enhancers	Stomach Smooth Muscle	stomach
16	chr11:62447200-62449000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:62447200-62449000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:62447200-62449000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:62447200-62449800	Weak transcription	Pancreas	Pancrea
20	chr11:62447200-62455400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:62447200-62456800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:62447200-62457000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:62447200-62457200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:62447200-62457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:62447200-62457600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:62447200-62458400	Weak transcription	HMEC	breast
27	chr11:62447400-62450400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:62447600-62449000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:62447800-62448800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:62447800-62449200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr11:62448000-62448600	Enhancers	Primary B cells from peripheral blood	blood
32	chr11:62448000-62448600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr11:62448000-62448600	Enhancers	Hela-S3	cervix
34	chr11:62448000-62448800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr11:62448000-62448800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:62448000-62448800	Enhancers	Liver	Liver
37	chr11:62448000-62448800	Enhancers	Dnd41	blood
38	chr11:62448000-62449000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:62448200-62448600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:62448200-62448600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:62448200-62448600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr11:62448200-62448600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:62448200-62448600	Enhancers	NHEK	skin
44	chr11:62448200-62448600	Enhancers	NHLF	lung
45	chr11:62448200-62448800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr11:62448200-62448800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:62448200-62448800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:62448200-62448800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:62448200-62448800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:62448200-62448800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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