Variant report

Variant	rs588693
Chromosome Location	chr11:71824268-71824269
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71822603-71824498	HepG2	liver:	n/a	n/a
2	RCOR1	chr11:71823000-71824582	K562	blood:	n/a	n/a
3	CREB1	chr11:71823250-71824382	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr11:71822870-71824488	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:71822648-71824589	K562	blood:	n/a	n/a
6	TBP	chr11:71822687-71824390	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:71822638-71824547	ProgFib	skin:	n/a	n/a
8	POLR2A	chr11:71822918-71824379	GM15510	blood:	n/a	n/a
9	POLR2A	chr11:71822004-71824821	GM12892	blood:	n/a	n/a
10	TBL1XR1	chr11:71822867-71824412	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:71821894-71824788	GM12892	blood:	n/a	n/a
12	MYC	chr11:71822705-71824721	NB4	blood:	n/a	n/a
13	POLR2A	chr11:71822414-71824888	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr11:71822588-71824612	HUVEC	blood vessel:	n/a	n/a
15	SIN3AK20	chr11:71823656-71824268	A549	lung:	n/a	n/a
16	USF2	chr11:71823045-71824365	Hela-S3	cervix:	n/a	chr11:71823708-71823724 chr11:71823190-71823206 chr11:71823700-71823716
17	BRCA1	chr11:71823066-71824476	Hela-S3	cervix:	n/a	chr11:71824425-71824432 chr11:71823376-71823383
18	MXI1	chr11:71822770-71824573	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:71822928-71824513	GM18526	blood:	n/a	n/a
20	POLR2A	chr11:71822329-71824375	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:71822645-71824643	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr11:71823085-71824434	GM12878	blood:	n/a	n/a
23	MTA3	chr11:71822263-71824835	GM12878	blood:	n/a	n/a
24	UBTF	chr11:71823431-71824305	K562	blood:	n/a	n/a
25	POLR2A	chr11:71822791-71824723	GM12878	blood:	n/a	n/a
26	RELA	chr11:71822768-71824502	GM12891	blood:	n/a	n/a
27	TBP	chr11:71823047-71824413	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:71822719-71824682	Raji	blood:	n/a	n/a
29	MAX	chr11:71822724-71824556	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:71822744-71824558	GM19193	blood:	n/a	n/a
31	IRF1	chr11:71822561-71824435	K562	blood:	n/a	n/a
32	SMARCC1	chr11:71822115-71824757	Hela-S3	cervix:	n/a	n/a
33	CUX1	chr11:71822807-71824440	K562	blood:	n/a	n/a
34	POLR2A	chr11:71822369-71824831	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:71822889-71824658	HL-60	blood:	n/a	n/a
36	ZMIZ1	chr11:71822492-71824717	K562	blood:	n/a	n/a
37	MXI1	chr11:71822835-71824454	GM12878	blood:	n/a	n/a
38	RFX5	chr11:71822790-71824445	Hela-S3	cervix:	n/a	chr11:71824429-71824438 chr11:71823554-71823563 chr11:71823992-71824008
39	E2F4	chr11:71822892-71824517	MCF10A-Er-Src	breast:	n/a	chr11:71823783-71823792 chr11:71823815-71823826 chr11:71823688-71823703 chr11:71823816-71823828 chr11:71823445-71823455
40	IRF1	chr11:71822598-71824461	K562	blood:	n/a	n/a
41	POLR2A	chr11:71822840-71824607	K562	blood:	n/a	n/a
42	TCF12	chr11:71822860-71824449	A549	lung:	n/a	n/a
43	MXI1	chr11:71821877-71824738	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr11:71822382-71824609	HUVEC	blood vessel:	n/a	n/a
45	SIN3A	chr11:71822979-71824305	GM12878	blood:	n/a	chr11:71823707-71823720 chr11:71823191-71823204
46	NRF1	chr11:71822689-71824314	GM12878	blood:	n/a	n/a
47	SP1	chr11:71822938-71824313	HCT-116	colon:	n/a	chr11:71823528-71823537 chr11:71823526-71823538
48	SMC3	chr11:71822641-71824672	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:71822763-71824538	K562	blood:	n/a	n/a
50	POLR2A	chr11:71822894-71824635	HEK293	kidney:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71822074..71824400-chr11:71947784..71949539,2	K562	blood:
2	chr11:71791731..71794694-chr11:71822498..71824725,2	MCF-7	breast:
3	chr11:71780985..71784804-chr11:71822969..71825529,4	K562	blood:
4	chr11:71823473..71824353-chr17:56708653..56709308,2	Hela-S3	cervix:
5	chr11:71749313..71752204-chr11:71820647..71824475,4	MCF-7	breast:
6	chr11:71821560..71824482-chr11:71933153..71936536,4	MCF-7	breast:
7	chr11:71722105..71724138-chr11:71823048..71824784,2	K562	blood:
8	chr11:71823629..71824351-chr7:156741973..156742865,2	Hela-S3	cervix:
9	chr11:71823336..71825069-chr11:71869762..71871942,2	K562	blood:
10	chr11:71735248..71738213-chr11:71822405..71824486,2	MCF-7	breast:
11	chr11:71778482..71780847-chr11:71823918..71825568,2	MCF-7	breast:
12	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
13	chr11:71789330..71791508-chr11:71823256..71824800,2	MCF-7	breast:
14	chr11:71822104..71825137-chr11:71839409..71842719,3	K562	blood:
15	chr11:71821479..71826547-chr11:71844956..71851162,6	K562	blood:
16	chr11:71823591..71824486-chr2:74346899..74347812,2	Hela-S3	cervix:
17	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:
18	chr11:71822594..71824677-chr11:71937330..71938993,2	MCF-7	breast:
19	chr11:71823487..71825907-chr11:71932451..71935590,3	K562	blood:

No data

Variant related genes	Relation type
ANAPC15	TF binding region
FOLR3	TF binding region
ENSG00000256518	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000257075	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000146909	Chromatin interaction
ENSG00000263742	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10898821	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828745	1.00[MEX][hapmap]
rs3898386	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71822600-71824400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr11:71822600-71824400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:71822800-71824400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:71823000-71824400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:71823000-71824400	Active TSS	Aorta	Aorta
6	chr11:71823000-71824400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:71823000-71824800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:71823200-71824400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:71823800-71824400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:71823800-71824400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:71823800-71824400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr11:71823800-71824400	Flanking Active TSS	NH-A	brain
13	chr11:71823800-71824400	Flanking Active TSS	NHLF	lung
14	chr11:71823800-71824400	Flanking Active TSS	Osteobl	bone
15	chr11:71823800-71824600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr11:71823800-71824800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:71823800-71826600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:71824000-71824400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:71824000-71824400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:71824000-71824400	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr11:71824000-71824400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr11:71824000-71824400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr11:71824000-71824400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr11:71824000-71824400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr11:71824000-71824400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:71824000-71824400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr11:71824000-71824400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr11:71824000-71824400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr11:71824000-71824400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:71824000-71824400	Flanking Active TSS	Liver	Liver
31	chr11:71824000-71824400	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr11:71824000-71824400	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr11:71824000-71824400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:71824000-71824400	Flanking Active TSS	Fetal Brain Male	brain
35	chr11:71824000-71824400	Flanking Active TSS	Fetal Brain Female	brain
36	chr11:71824000-71824400	Flanking Active TSS	Fetal Heart	heart
37	chr11:71824000-71824400	Flanking Active TSS	Fetal Lung	lung
38	chr11:71824000-71824400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr11:71824000-71824400	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr11:71824000-71824400	Flanking Active TSS	Thymus	Thymus
41	chr11:71824000-71824400	Flanking Active TSS	HMEC	breast
42	chr11:71824000-71824400	Flanking Active TSS	HSMM	muscle
43	chr11:71824000-71824400	Flanking Active TSS	HUVEC	blood vessel
44	chr11:71824000-71824400	Flanking Active TSS	K562	blood
45	chr11:71824000-71824600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:71824000-71824600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:71824000-71824600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:71824000-71824600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr11:71824000-71824600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:71824000-71824600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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