Variant report

Variant	rs13009247
Chromosome Location	chr2:111878263-111878264
allele	C/T
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	CTCF	chr2:111878120-111878270	HRE	kidney:	n/a	chr2:111878244-111878257
2	EGR1	chr2:111878243-111878516	GM12878	blood:	n/a	chr2:111878412-111878421 chr2:111878428-111878443 chr2:111878405-111878427 chr2:111878410-111878424 chr2:111878409-111878422 chr2:111878411-111878421 chr2:111878409-111878422 chr2:111878409-111878423 chr2:111878409-111878422 chr2:111878412-111878422 chr2:111878410-111878421 chr2:111878409-111878422
3	POLR2A	chr2:111877810-111878697	A549	lung:	n/a	n/a
4	POLR2A	chr2:111877869-111878790	HCT-116	colon:	n/a	n/a
5	ARID3A	chr2:111877971-111878550	HepG2	liver:	n/a	n/a
6	E2F6	chr2:111877408-111879340	K562	blood:	n/a	chr2:111878414-111878423 chr2:111877747-111877759 chr2:111877478-111877490 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111878285-111878294 chr2:111878171-111878181
7	MYBL2	chr2:111877719-111878714	HepG2	liver:	n/a	n/a
8	TAF1	chr2:111877903-111878737	A549	lung:	n/a	n/a
9	MAX	chr2:111877563-111881015	NB4	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
10	MAX	chr2:111877317-111879304	H1-hESC	embryonic stem cell:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
11	E2F6	chr2:111876311-111880584	H1-hESC	embryonic stem cell:	n/a	chr2:111876443-111876455 chr2:111878414-111878423 chr2:111880549-111880558 chr2:111880095-111880104 chr2:111877747-111877759 chr2:111877347-111877357 chr2:111876622-111876632 chr2:111877478-111877490 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111880318-111880330 chr2:111878285-111878294 chr2:111878171-111878181 chr2:111880053-111880060
12	POLR2A	chr2:111877782-111879129	MCF-7	breast:	n/a	n/a
13	CREB1	chr2:111877860-111878690	A549	lung:	n/a	n/a
14	FOS	chr2:111878238-111878522	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr2:111878105-111878356	Spleen_OC	spleen:	n/a	chr2:111878244-111878257
16	NFYA	chr2:111878259-111878539	Hela-S3	cervix:	n/a	n/a
17	EP300	chr2:111877870-111878996	SK-N-SH	brain:	n/a	chr2:111878469-111878485 chr2:111878110-111878126 chr2:111878390-111878406 chr2:111878168-111878177 chr2:111878159-111878175 chr2:111878171-111878180
18	CREB1	chr2:111878014-111878911	K562	blood:	n/a	n/a
19	MAX	chr2:111877825-111879196	SK-N-SH	brain:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693
20	PML	chr2:111877945-111878708	K562	blood:	n/a	n/a
21	TCF12	chr2:111877680-111880212	A549	lung:	n/a	n/a
22	FOXA2	chr2:111878043-111878434	HepG2	liver:	n/a	n/a
23	ELF1	chr2:111877976-111878501	HepG2	liver:	n/a	chr2:111878173-111878182 chr2:111878166-111878178
24	SIN3AK20	chr2:111877611-111881217	MCF-7	breast:	n/a	n/a
25	RCOR1	chr2:111877851-111878973	HepG2	liver:	n/a	n/a
26	TAF7	chr2:111878146-111878623	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr2:111877835-111878982	PFSK-1	brain:	n/a	n/a
28	TCF7L2	chr2:111877977-111878441	PANC-1	pancreas:	n/a	n/a
29	GTF2F1	chr2:111878092-111878545	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr2:111877517-111879634	ECC-1	luminal epithelium:	n/a	n/a
31	TBP	chr2:111878206-111878641	Hela-S3	cervix:	n/a	n/a
32	NR2F2	chr2:111877591-111878775	MCF-7	breast:	n/a	n/a
33	POLR2A	chr2:111878137-111878791	SK-N-MC	brain:	n/a	n/a
34	RAD21	chr2:111877974-111878293	SK-N-SH_RA	brain:	n/a	n/a
35	POLR2A	chr2:111877971-111878943	HCT-116	colon:	n/a	n/a
36	MYBL2	chr2:111877844-111878570	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:111877945-111878731	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr2:111877806-111880414	GM12878	blood:	n/a	n/a
39	HCFC1	chr2:111877979-111880854	K562	blood:	n/a	n/a
40	POLR2A	chr2:111877738-111878830	K562	blood:	n/a	n/a
41	SUZ12	chr2:111874709-111878454	NT2-D1	testis:	n/a	n/a
42	POLR2A	chr2:111877942-111881067	IMR90	lung:	n/a	n/a
43	POLR2A	chr2:111877963-111879180	K562	blood:	n/a	n/a
44	STAT1	chr2:111877756-111878558	GM12878	blood:	n/a	n/a
45	CTCF	chr2:111878077-111878322	NHEK	skin:	n/a	chr2:111878244-111878257
46	IRF1	chr2:111878028-111878677	K562	blood:	n/a	chr2:111878413-111878427 chr2:111878485-111878496 chr2:111878397-111878411
47	ZNF143	chr2:111878004-111878466	K562	blood:	n/a	n/a
48	CTCF	chr2:111878140-111878290	HCT-116	colon:	n/a	chr2:111878244-111878257
49	YY1	chr2:111877944-111878574	K562	blood:	n/a	chr2:111878164-111878173 chr2:111878499-111878510 chr2:111878164-111878175 chr2:111878165-111878179 chr2:111878414-111878423 chr2:111878039-111878050 chr2:111878168-111878182 chr2:111878285-111878299 chr2:111878170-111878179 chr2:111878159-111878173 chr2:111878164-111878178
50	EBF1	chr2:111878082-111878449	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
2	chr2:111877393..111879713-chr2:112235053..112237981,2	K562	blood:
3	chr17:39845098..39845687-chr2:111878260..111879017,2	Hela-S3	cervix:
4	chr2:111878015..111878894-chr21:30391308..30391895,2	Hela-S3	cervix:
5	chr2:111876826..111879311-chr2:111966028..111968773,2	K562	blood:
6	chr12:28120103..28122878-chr2:111877498..111879183,2	MCF-7	breast:

Variant related genes	Relation type
BCL2L11	TF binding region
ENSG00000173812	Chromatin interaction
ENSG00000204581	Chromatin interaction
ENSG00000172965	Chromatin interaction
ENSG00000087494	Chromatin interaction
ENSG00000156253	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv829618	chr2:111875627-111881547	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3338590	chr2:111876081-111880479	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3373707	chr2:111877306-111879854	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:111874600-111878400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
6	chr2:111875600-111880000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
8	chr2:111876200-111880000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:111876400-111878400	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr2:111876400-111880000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:111877000-111881000	Active TSS	Small Intestine	intestine
12	chr2:111877000-111881400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:111877200-111878400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr2:111877200-111879200	Active TSS	Rectal Smooth Muscle	rectum
15	chr2:111877200-111880800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:111877400-111879200	Transcr. at gene 5' and 3'	Right Atrium	heart
17	chr2:111877600-111878400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:111877600-111879200	Active TSS	Brain Cingulate Gyrus	brain
19	chr2:111877600-111879200	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:111877600-111879400	Active TSS	HSMM	muscle
21	chr2:111877600-111879800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:111877600-111881000	Active TSS	Esophagus	oesophagus
23	chr2:111877600-111881200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:111877600-111881200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:111877600-111881400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:111877800-111878600	Active TSS	HepG2	liver
27	chr2:111877800-111879000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:111877800-111879200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr2:111877800-111879200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:111877800-111879200	Active TSS	Brain Angular Gyrus	brain
31	chr2:111877800-111879200	Active TSS	Placenta Amnion	Placenta Amnion
32	chr2:111877800-111879200	Active TSS	K562	blood
33	chr2:111877800-111879400	Active TSS	Fetal Heart	heart
34	chr2:111877800-111880000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr2:111877800-111880800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:111877800-111881000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr2:111877800-111881000	Active TSS	A549	lung
38	chr2:111877800-111881000	Active TSS	Hela-S3	cervix
39	chr2:111877800-111881200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr2:111877800-111881400	Active TSS	Ovary	ovary
41	chr2:111877800-111881400	Active TSS	HSMMtube	muscle
42	chr2:111878000-111878400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr2:111878000-111878600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr2:111878000-111878800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr2:111878000-111878800	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr2:111878000-111878800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:111878000-111878800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:111878000-111878800	Active TSS	Colon Smooth Muscle	Colon
49	chr2:111878000-111878800	Active TSS	Placenta	Placenta
50	chr2:111878000-111879000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle

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