Variant report

Variant	rs71465620
Chromosome Location	chr11:85904430-85904431
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	GABPA	chr11:85904137-85905137	MCF-7	breast:	n/a	n/a
2	MAFF	chr11:85904369-85904882	K562	blood:	n/a	n/a
3	RAD21	chr11:85904418-85904972	GM12878	blood:	n/a	chr11:85904752-85904766 chr11:85904748-85904767
4	SPI1	chr11:85904349-85904701	K562	blood:	n/a	chr11:85904516-85904529 chr11:85904518-85904525 chr11:85904515-85904528 chr11:85904517-85904526
5	BATF	chr11:85904411-85904925	GM12878	blood:	n/a	n/a
6	SP1	chr11:85904401-85904945	A549	lung:	n/a	n/a
7	ATF2	chr11:85904290-85904905	GM12878	blood:	n/a	n/a
8	ELF1	chr11:85904384-85904882	A549	lung:	n/a	chr11:85904517-85904528
9	RAD21	chr11:85904335-85905109	HCT-116	colon:	n/a	chr11:85904752-85904766 chr11:85904748-85904767
10	MYC	chr11:85904023-85904860	MCF10A-Er-Src	breast:	n/a	n/a
11	GTF2F1	chr11:85904430-85905065	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr11:85904417-85904954	MCF-7	breast:	n/a	chr11:85904752-85904766 chr11:85904748-85904767
13	CUX1	chr11:85903864-85905212	K562	blood:	n/a	n/a
14	STAT3	chr11:85903994-85904927	MCF10A-Er-Src	breast:	n/a	chr11:85904628-85904639 chr11:85904615-85904638 chr11:85904676-85904688 chr11:85904630-85904638
15	STAT3	chr11:85904183-85905039	Hela-S3	cervix:	n/a	chr11:85904628-85904639 chr11:85904615-85904638 chr11:85904676-85904688 chr11:85904630-85904638
16	STAT3	chr11:85903956-85904923	MCF10A-Er-Src	breast:	n/a	chr11:85904628-85904639 chr11:85904615-85904638 chr11:85904676-85904688 chr11:85904630-85904638
17	FOS	chr11:85904385-85904928	MCF10A-Er-Src	breast:	n/a	n/a
18	MAX	chr11:85904412-85904994	A549	lung:	n/a	n/a
19	CEBPB	chr11:85904358-85904926	K562	blood:	n/a	n/a
20	CBX3	chr11:85904056-85904962	K562	blood:	n/a	n/a
21	SPI1	chr11:85904268-85904900	GM12891	blood:	n/a	chr11:85904516-85904529 chr11:85904518-85904525 chr11:85904515-85904528 chr11:85904517-85904526
22	BCLAF1	chr11:85904316-85904962	GM12878	blood:	n/a	n/a
23	RAD21	chr11:85904374-85904936	GM12878	blood:	n/a	chr11:85904752-85904766 chr11:85904748-85904767
24	NR2F2	chr11:85904365-85904939	K562	blood:	n/a	n/a
25	EP300	chr11:85903956-85904807	GM12878	blood:	n/a	chr11:85904539-85904548 chr11:85904517-85904526 chr11:85904568-85904575 chr11:85904513-85904527 chr11:85904488-85904497
26	POLR2A	chr11:85904335-85904765	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:85904333-85904561	MCF10A-Er-Src	breast:	n/a	n/a
28	SPI1	chr11:85904262-85904923	HL-60	blood:	n/a	chr11:85904516-85904529 chr11:85904518-85904525 chr11:85904515-85904528 chr11:85904517-85904526
29	RAD21	chr11:85904215-85905328	SK-N-SH	brain:	n/a	chr11:85904752-85904766 chr11:85904748-85904767
30	MAX	chr11:85904316-85904836	GM12878	blood:	n/a	n/a
31	JUN	chr11:85904373-85904948	K562	blood:	n/a	n/a
32	JUND	chr11:85904386-85904993	K562	blood:	n/a	n/a
33	SPI1	chr11:85904373-85904726	K562	blood:	n/a	chr11:85904516-85904529 chr11:85904518-85904525 chr11:85904515-85904528 chr11:85904517-85904526
34	STAT3	chr11:85903956-85905178	MCF10A-Er-Src	breast:	n/a	chr11:85904628-85904639 chr11:85904615-85904638 chr11:85904676-85904688 chr11:85904630-85904638
35	MAX	chr11:85904172-85904926	Hela-S3	cervix:	n/a	n/a
36	EP300	chr11:85904018-85905290	Hela-S3	cervix:	n/a	chr11:85904539-85904548 chr11:85904517-85904526 chr11:85904568-85904575 chr11:85904513-85904527 chr11:85904488-85904497
37	CHD2	chr11:85904254-85904899	Hela-S3	cervix:	n/a	n/a
38	MAFK	chr11:85904059-85904956	K562	blood:	n/a	n/a
39	NFIC	chr11:85904110-85904863	GM12878	blood:	n/a	n/a
40	ARID3A	chr11:85904092-85905037	K562	blood:	n/a	n/a
41	SPI1	chr11:85903569-85905008	GM12878	blood:	n/a	chr11:85904516-85904529 chr11:85904518-85904525 chr11:85904515-85904528 chr11:85904517-85904526
42	SMC3	chr11:85904361-85905218	Hela-S3	cervix:	n/a	chr11:85904752-85904766 chr11:85904543-85904551
43	PML	chr11:85904223-85904954	K562	blood:	n/a	n/a
44	RCOR1	chr11:85904117-85904925	K562	blood:	n/a	n/a
45	ELF1	chr11:85904325-85904989	MCF-7	breast:	n/a	chr11:85904517-85904528
46	NFIC	chr11:85903908-85904997	GM12878	blood:	n/a	n/a
47	TBP	chr11:85904272-85905109	Hela-S3	cervix:	n/a	n/a
48	MAX	chr11:85904365-85904935	Hela-S3	cervix:	n/a	n/a
49	RAD21	chr11:85904321-85905000	Hela-S3	cervix:	n/a	chr11:85904752-85904766 chr11:85904748-85904767
50	EBF1	chr11:85904349-85905024	GM12878	blood:	n/a	chr11:85904710-85904721

No.	Distal block	Cell Line	Cell type
1	chr11:85779917..85781059-chr11:85904304..85905143,3	K562	blood:
2	chr11:85776467..85780584-chr11:85902948..85906650,5	MCF-7	breast:
3	chr11:85777862..85782517-chr11:85902953..85907117,7	K562	blood:
4	chr11:85780842..85782517-chr11:85902552..85904453,2	K562	blood:

Variant related genes	Relation type
ENSG00000254502	TF binding region
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12786136	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12801046	1.00[AMR][1000 genomes]
rs12807379	1.00[AMR][1000 genomes]
rs12808260	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35035977	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35766408	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62619894	1.00[AMR][1000 genomes]
rs71465618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71465624	1.00[AMR][1000 genomes]

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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2757460	chr11:85869944-85905513	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759846	chr11:85869944-85905513	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv555660	chr11:85891661-85905715	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85894400-85904600	Weak transcription	Pancreas	Pancrea
2	chr11:85898400-85913400	Weak transcription	Left Ventricle	heart
3	chr11:85902000-85908800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:85902800-85905200	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:85902800-85907000	Enhancers	Hela-S3	cervix
6	chr11:85903000-85904800	Enhancers	HepG2	liver
7	chr11:85903000-85905200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:85903400-85904800	Flanking Active TSS	GM12878-XiMat	blood
9	chr11:85903400-85905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:85903600-85904600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:85903600-85904600	Enhancers	Right Ventricle	heart
12	chr11:85903600-85905000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr11:85903600-85905200	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:85903800-85904800	Enhancers	Dnd41	blood
15	chr11:85903800-85904800	Flanking Active TSS	K562	blood
16	chr11:85903800-85905000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr11:85903800-85905200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:85903800-85905200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:85903800-85905800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr11:85904000-85904600	Enhancers	NH-A	brain
21	chr11:85904000-85904800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:85904000-85904800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr11:85904000-85904800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:85904000-85904800	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr11:85904000-85904800	Enhancers	Fetal Intestine Large	intestine
26	chr11:85904000-85904800	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr11:85904000-85904800	Active TSS	Right Atrium	heart
28	chr11:85904000-85905000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:85904000-85905000	Enhancers	Fetal Muscle Leg	muscle
30	chr11:85904000-85905000	Enhancers	Placenta	Placenta
31	chr11:85904000-85905000	Enhancers	HMEC	breast
32	chr11:85904000-85905000	Enhancers	HSMM	muscle
33	chr11:85904000-85905200	Enhancers	NHLF	lung
34	chr11:85904000-85905400	Enhancers	Brain Angular Gyrus	brain
35	chr11:85904200-85904600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:85904200-85904600	Active TSS	Liver	Liver
37	chr11:85904200-85904600	Flanking Active TSS	Fetal Heart	heart
38	chr11:85904200-85904800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:85904200-85904800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:85904200-85904800	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr11:85904200-85904800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:85904200-85904800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:85904200-85904800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr11:85904200-85904800	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr11:85904200-85904800	Flanking Active TSS	HUVEC	blood vessel
46	chr11:85904200-85905000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:85904200-85905000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr11:85904200-85905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:85904400-85904600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:85904400-85904600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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