Variant report

Variant	rs56249089
Chromosome Location	chr11:71822845-71822846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

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	EP300	chr11:71822480-71824020	K562	blood:	n/a	chr11:71823713-71823722 chr11:71823695-71823711
3	POLR2A	chr11:71822648-71824589	K562	blood:	n/a	n/a
4	TBP	chr11:71822687-71824390	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:71822638-71824547	ProgFib	skin:	n/a	n/a
6	POLR2A	chr11:71822004-71824821	GM12892	blood:	n/a	n/a
7	MAFK	chr11:71822632-71824183	Hela-S3	cervix:	n/a	n/a
8	NFYA	chr11:71822757-71823922	K562	blood:	n/a	chr11:71823551-71823566 chr11:71823551-71823566 chr11:71823553-71823563 chr11:71823457-71823475 chr11:71823551-71823565
9	POLR2A	chr11:71821894-71824788	GM12892	blood:	n/a	n/a
10	MYC	chr11:71822705-71824721	NB4	blood:	n/a	n/a
11	POLR2A	chr11:71822414-71824888	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:71822588-71824612	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:71822508-71822874	U87	brain:	n/a	n/a
14	TAF1	chr11:71822754-71824175	H1-neurons	neurons:	n/a	n/a
15	MXI1	chr11:71822770-71824573	Hela-S3	cervix:	n/a	n/a
16	RCOR1	chr11:71822369-71824146	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:71822329-71824375	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:71822645-71824643	H1-hESC	embryonic stem cell:	n/a	n/a
19	MTA3	chr11:71822660-71823347	GM12878	blood:	n/a	n/a
20	MTA3	chr11:71822263-71824835	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:71822791-71824723	GM12878	blood:	n/a	n/a
22	RELA	chr11:71822768-71824502	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:71822719-71824682	Raji	blood:	n/a	n/a
24	MAX	chr11:71822724-71824556	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:71822744-71824558	GM19193	blood:	n/a	n/a
26	IRF1	chr11:71822561-71824435	K562	blood:	n/a	n/a
27	SMARCC1	chr11:71822115-71824757	Hela-S3	cervix:	n/a	n/a
28	CUX1	chr11:71822807-71824440	K562	blood:	n/a	n/a
29	POLR2A	chr11:71822369-71824831	MCF10A-Er-Src	breast:	n/a	n/a
30	ZMIZ1	chr11:71822492-71824717	K562	blood:	n/a	n/a
31	MXI1	chr11:71822835-71824454	GM12878	blood:	n/a	n/a
32	RFX5	chr11:71822790-71824445	Hela-S3	cervix:	n/a	chr11:71824429-71824438 chr11:71823554-71823563 chr11:71823992-71824008
33	IRF1	chr11:71822598-71824461	K562	blood:	n/a	n/a
34	TEAD4	chr11:71822671-71823527	K562	blood:	n/a	n/a
35	POLR2A	chr11:71822840-71824607	K562	blood:	n/a	n/a
36	MXI1	chr11:71821877-71824738	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr11:71822382-71824609	HUVEC	blood vessel:	n/a	n/a
38	NRF1	chr11:71822689-71824314	GM12878	blood:	n/a	n/a
39	SMC3	chr11:71822641-71824672	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:71822763-71824538	K562	blood:	n/a	n/a
41	POLR2A	chr11:71822581-71824561	GM12891	blood:	n/a	n/a
42	WRNIP1	chr11:71822429-71824469	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:71822649-71824596	GM12891	blood:	n/a	n/a
44	POLR2A	chr11:71822584-71824735	SK-N-SH	brain:	n/a	n/a
45	TBL1XR1	chr11:71822571-71824173	K562	blood:	n/a	n/a
46	POLR2A	chr11:71822407-71824679	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr11:71822771-71824558	K562	blood:	n/a	n/a
48	POLR2A	chr11:71822646-71824698	K562	blood:	n/a	n/a
49	POLR2A	chr11:71822512-71824613	U87	brain:	n/a	n/a
50	POLR2A	chr11:71822765-71824318	H1-neurons	neurons:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71821211..71823051-chr11:71942558..71945428,2	K562	blood:
2	chr11:71638287..71640361-chr11:71821333..71824174,2	MCF-7	breast:
3	chr11:71822074..71824400-chr11:71947784..71949539,2	K562	blood:
4	chr11:71822793..71823782-chr3:73159959..73160606,2	Hela-S3	cervix:
5	chr11:71791731..71794694-chr11:71822498..71824725,2	MCF-7	breast:
6	chr11:71821841..71823408-chr11:72142963..72145568,2	K562	blood:
7	chr11:71749313..71752204-chr11:71820647..71824475,4	MCF-7	breast:
8	chr11:71821560..71824482-chr11:71933153..71936536,4	MCF-7	breast:
9	chr11:71735248..71738213-chr11:71822405..71824486,2	MCF-7	breast:
10	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
11	chr11:71822104..71825137-chr11:71839409..71842719,3	K562	blood:
12	chr11:71822838..71823476-chr5:16465889..16466515,2	Hela-S3	cervix:
13	chr11:71821479..71826547-chr11:71844956..71851162,6	K562	blood:
14	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:
15	chr11:71822594..71824677-chr11:71937330..71938993,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANAPC15	TF binding region
FOLR3	TF binding region
ENSG00000137497	Chromatin interaction
ENSG00000173545	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000257075	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000254469	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55673306	0.86[AFR][1000 genomes]
rs56160537	0.86[AFR][1000 genomes]
rs56304359	1.00[AFR][1000 genomes]
rs56785523	0.86[AFR][1000 genomes]
rs57683667	1.00[AFR][1000 genomes]
rs58408933	0.86[AFR][1000 genomes]
rs59722863	1.00[AFR][1000 genomes]
rs61051812	0.86[AFR][1000 genomes]
rs61537950	0.86[AFR][1000 genomes]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71815000-71823000	Weak transcription	Small Intestine	intestine
2	chr11:71821600-71823000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:71821800-71823000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:71822200-71823000	Flanking Active TSS	GM12878-XiMat	blood
5	chr11:71822200-71823200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr11:71822400-71823000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:71822400-71823000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:71822400-71823000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:71822400-71823000	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr11:71822400-71823000	Flanking Active TSS	Dnd41	blood
11	chr11:71822400-71823200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr11:71822400-71823200	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr11:71822400-71823200	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:71822400-71823200	Flanking Active TSS	Hela-S3	cervix
15	chr11:71822400-71823200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:71822400-71823200	Flanking Active TSS	NH-A	brain
17	chr11:71822400-71823400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr11:71822400-71823600	Weak transcription	Gastric	stomach
19	chr11:71822400-71823600	Weak transcription	Spleen	Spleen
20	chr11:71822400-71824000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:71822600-71823000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:71822600-71823000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:71822600-71823000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:71822600-71823000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:71822600-71823000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:71822600-71823000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:71822600-71823000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:71822600-71823000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:71822600-71823000	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr11:71822600-71823000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:71822600-71823000	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr11:71822600-71823000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr11:71822600-71823000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:71822600-71823000	Flanking Active TSS	Colonic Mucosa	Colon
35	chr11:71822600-71823000	Flanking Active TSS	Fetal Brain Male	brain
36	chr11:71822600-71823000	Flanking Active TSS	Fetal Brain Female	brain
37	chr11:71822600-71823000	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr11:71822600-71823000	Flanking Active TSS	Fetal Kidney	kidney
39	chr11:71822600-71823000	Flanking Active TSS	Fetal Lung	lung
40	chr11:71822600-71823000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr11:71822600-71823000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr11:71822600-71823000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
43	chr11:71822600-71823000	Transcr. at gene 5' and 3'	Thymus	Thymus
44	chr11:71822600-71823000	Flanking Active TSS	A549	lung
45	chr11:71822600-71823000	Flanking Active TSS	K562	blood
46	chr11:71822600-71823000	Flanking Active TSS	NHDF-Ad	bronchial
47	chr11:71822600-71823200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:71822600-71823200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:71822600-71823200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr11:71822600-71823200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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