Variant report

Variant	rs200652254
Chromosome Location	chr2:113842124-113842125
allele	-/AA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:113842000-113842150	HBMEC	blood vessel:	n/a	n/a
2	USF1	chr2:113841725-113842190	HCT-116	colon:	n/a	n/a
3	STAT3	chr2:113841869-113842183	MCF10A-Er-Src	breast:	n/a	n/a
4	MAX	chr2:113841790-113842151	NB4	blood:	n/a	n/a
5	CTCF	chr2:113841859-113842224	GM12878	blood:	n/a	n/a
6	ARID3A	chr2:113841883-113842184	K562	blood:	n/a	n/a
7	RAD21	chr2:113841806-113842339	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:113841682-113842424	HCT-116	colon:	n/a	n/a
9	ZNF143	chr2:113841881-113842212	GM12878	blood:	n/a	n/a
10	RAD21	chr2:113841739-113842373	HepG2	liver:	n/a	n/a
11	FOS	chr2:113841851-113842176	MCF10A-Er-Src	breast:	n/a	n/a
12	RAD21	chr2:113841778-113842309	MCF-7	breast:	n/a	n/a
13	RAD21	chr2:113841741-113842310	HCT-116	colon:	n/a	n/a
14	ARID3A	chr2:113841833-113842200	HepG2	liver:	n/a	n/a
15	CTCF	chr2:113841922-113842127	Hela-S3	cervix:	n/a	n/a
16	ZNF384	chr2:113842053-113842198	GM12878	blood:	n/a	n/a
17	CTCF	chr2:113841755-113842249	HCT-116	colon:	n/a	n/a
18	RAD21	chr2:113841853-113842221	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr2:113841914-113842140	GM12878	blood:	n/a	n/a
20	SRF	chr2:113841850-113842273	HCT-116	colon:	n/a	n/a
21	RAD21	chr2:113841879-113842191	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr2:113841932-113842191	HepG2	liver:	n/a	n/a
23	FOS	chr2:113841873-113842160	MCF10A-Er-Src	breast:	n/a	n/a
24	CTCF	chr2:113841927-113842134	K562	blood:	n/a	n/a
25	CTCF	chr2:113841908-113842135	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr2:113841980-113842130	HVMF	connective:	n/a	n/a
27	CTCF	chr2:113841906-113842126	LNCaP	prostate:	n/a	n/a
28	CTCF	chr2:113842080-113842230	GM12869	blood:	n/a	n/a
29	SMC3	chr2:113841927-113842171	GM12878	blood:	n/a	n/a
30	CTCF	chr2:113841980-113842130	HCT-116	colon:	n/a	n/a
31	CTCF	chr2:113841832-113842245	K562	blood:	n/a	n/a
32	CTCF	chr2:113842040-113842190	RPTEC	kidney:	n/a	n/a
33	MYC	chr2:113841773-113842206	MCF10A-Er-Src	breast:	n/a	n/a
34	RAD21	chr2:113841891-113842210	HepG2	liver:	n/a	n/a
35	RAD21	chr2:113841709-113842328	HCT-116	colon:	n/a	n/a
36	CTCF	chr2:113841888-113842180	IMR90	lung:	n/a	n/a
37	RAD21	chr2:113841752-113842280	A549	lung:	n/a	n/a
38	CTCF	chr2:113841888-113842143	HepG2	liver:	n/a	n/a
39	CBX3	chr2:113841780-113842272	HCT-116	colon:	n/a	n/a
40	RAD21	chr2:113841872-113842171	GM12878	blood:	n/a	n/a
41	STAT3	chr2:113841879-113842152	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr2:113842020-113842170	GM12873	blood:	n/a	n/a
43	MAX	chr2:113841664-113842249	HCT-116	colon:	n/a	n/a
44	RAD21	chr2:113841912-113842172	HepG2	liver:	n/a	n/a
45	CTCF	chr2:113842000-113842150	GM12866	blood:	n/a	n/a
46	MAX	chr2:113841713-113842204	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:113841784-113842225	HepG2	liver:	n/a	n/a
48	CTCF	chr2:113842000-113842150	HCT-116	colon:	n/a	n/a
49	CTCF	chr2:113841956-113842136	Lung_OC	lung:	n/a	n/a
50	STAT3	chr2:113841880-113842151	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113834467..113836706-chr2:113841489..113843964,2	MCF-7	breast:
2	chr2:113842067..113843806-chr2:113845279..113847597,2	K562	blood:
3	chr2:113840473..113842575-chr2:113882514..113884830,2	MCF-7	breast:
4	chr2:113840523..113843293-chr2:113890844..113893174,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1180P	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv511806	chr2:113841061-113844598	Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2002722	chr2:113842124-113842126	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113838200-113842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113838200-113842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:113838200-113842200	Weak transcription	Stomach Mucosa	stomach
4	chr2:113839400-113843600	Weak transcription	Esophagus	oesophagus
5	chr2:113839600-113842200	Weak transcription	HMEC	breast
6	chr2:113840000-113842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:113840800-113842400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:113841400-113847400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:113842000-113843800	Enhancers	NHEK	skin

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