Variant report

Variant	rs200603499
Chromosome Location	chr11:65429686-65429687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65428366-65431647	GM12878	blood:	n/a	n/a
2	HCFC1	chr11:65428690-65431781	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:65429618-65429864	Hela-S3	cervix:	n/a	n/a
4	RUNX3	chr11:65429624-65430194	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:65429366-65431700	K562	blood:	n/a	n/a
6	POLR2A	chr11:65428919-65431637	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:65429099-65431675	HUVEC	blood vessel:	n/a	n/a
8	MAZ	chr11:65429366-65431754	IMR90	lung:	n/a	chr11:65431210-65431220 chr11:65431262-65431271
9	POLR2A	chr11:65429615-65431639	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr11:65429531-65430145	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:65429501-65431162	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:65429685-65431580	PFSK-1	brain:	n/a	n/a
13	MTA3	chr11:65429542-65430191	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:65429013-65431427	GM12878	blood:	n/a	n/a
15	MXI1	chr11:65429118-65431737	IMR90	lung:	n/a	n/a
16	POLR2A	chr11:65429231-65429796	K562	blood:	n/a	n/a
17	ZNF263	chr11:65429373-65429870	HEK293-T-REx	kidney:	n/a	n/a
18	JUN	chr11:65429642-65431819	K562	blood:	n/a	chr11:65430747-65430756 chr11:65430743-65430752 chr11:65430687-65430700 chr11:65430150-65430159 chr11:65430086-65430098 chr11:65430691-65430700 chr11:65429781-65429791
19	MXI1	chr11:65429210-65431839	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr11:65428425-65431400	HepG2	liver:	n/a	n/a
21	WRNIP1	chr11:65429168-65430074	GM12878	blood:	n/a	n/a
22	MAX	chr11:65429670-65431494	K562	blood:	n/a	chr11:65431210-65431220 chr11:65431262-65431271
23	POLR2A	chr11:65429684-65431550	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr11:65429640-65429790	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr11:65429052-65429885	GM12878	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65412642..65414860-chr11:65428206..65431618,3	MCF-7	breast:
2	chr11:65380932..65386957-chr11:65428679..65431812,7	MCF-7	breast:
3	chr11:65400163..65404871-chr11:65428865..65432129,6	MCF-7	breast:
4	chr11:65428955..65432251-chr11:65654758..65658672,5	K562	blood:
5	chr11:65428959..65430837-chr11:65624739..65627866,4	K562	blood:
6	chr11:65339484..65343401-chr11:65428921..65432383,5	MCF-7	breast:
7	chr11:65428607..65431563-chr11:65477387..65481608,5	MCF-7	breast:
8	chr11:65423887..65432217-chr11:65622069..65628988,12	K562	blood:
9	chr11:65429654..65431219-chr11:65656697..65658398,2	MCF-7	breast:
10	chr11:65429376..65431458-chr8:146016410..146018952,2	MCF-7	breast:
11	chr11:65188743..65190282-chr11:65428876..65431588,2	MCF-7	breast:
12	chr11:65428776..65430910-chr11:65484370..65486909,4	MCF-7	breast:
13	chr11:65429132..65432605-chr11:65622916..65626202,6	MCF-7	breast:
14	chr11:65428985..65431213-chr11:65655731..65657899,2	K562	blood:
15	chr11:65429132..65431872-chr11:65817636..65822281,4	MCF-7	breast:
16	chr11:65265117..65266625-chr11:65429410..65431565,2	K562	blood:
17	chr11:65428607..65430796-chr11:65768393..65771088,2	K562	blood:
18	chr11:65336349..65338989-chr11:65428353..65432348,4	MCF-7	breast:
19	chr11:65381571..65386287-chr11:65427993..65433260,8	MCF-7	breast:
20	chr11:65428923..65432488-chr11:65624731..65627563,6	MCF-7	breast:
21	chr11:65428865..65431305-chr11:65626478..65629718,3	MCF-7	breast:
22	chr11:65428991..65430722-chr11:65553054..65555889,2	MCF-7	breast:

No data

Variant related genes	Relation type
RELA	TF binding region
ENSG00000087365	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000161016	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
2	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
3	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
4	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
5	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
8	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
11	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
12	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
13	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv897754	chr11:65405300-65436888	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
15	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
16	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
17	esv3415004	chr11:65429526-65431424	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 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	chr11:65420800-65429800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65425000-65429800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:65428400-65430000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:65428800-65429800	Flanking Active TSS	HMEC	breast
5	chr11:65428800-65430000	Transcr. at gene 5' and 3'	Fetal Lung	lung
6	chr11:65428800-65430000	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr11:65428800-65430200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr11:65428800-65430200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
9	chr11:65429000-65429800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr11:65429000-65429800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:65429000-65429800	Flanking Active TSS	NHDF-Ad	bronchial
12	chr11:65429000-65430000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:65429000-65430000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:65429000-65431400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:65429000-65431600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:65429200-65429800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
17	chr11:65429200-65429800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr11:65429200-65429800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:65429200-65429800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:65429200-65429800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:65429200-65429800	Flanking Active TSS	Liver	Liver
22	chr11:65429200-65429800	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr11:65429200-65429800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr11:65429200-65429800	Flanking Active TSS	Left Ventricle	heart
25	chr11:65429200-65429800	Flanking Active TSS	Pancreas	Pancrea
26	chr11:65429200-65429800	Flanking Active TSS	Right Atrium	heart
27	chr11:65429200-65429800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr11:65429200-65429800	Flanking Active TSS	HUVEC	blood vessel
29	chr11:65429200-65429800	Flanking Active TSS	NH-A	brain
30	chr11:65429200-65430000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:65429200-65430000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr11:65429200-65430000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:65429200-65430000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:65429200-65430000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr11:65429200-65430000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:65429200-65430000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr11:65429200-65430000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr11:65429200-65430000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr11:65429200-65430000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:65429200-65430000	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr11:65429200-65430000	Flanking Active TSS	Fetal Brain Female	brain
42	chr11:65429200-65430000	Flanking Active TSS	Fetal Thymus	thymus
43	chr11:65429200-65430000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr11:65429200-65430000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr11:65429200-65430000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:65429200-65430200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:65429200-65430200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr11:65429200-65430200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr11:65429200-65430200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
50	chr11:65429200-65430200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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