Variant report

Variant	rs7946909
Chromosome Location	chr11:65083061-65083062
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	MYBL2	chr11:65082854-65083340	HepG2	liver:	n/a	n/a
2	HDAC2	chr11:65082677-65083491	MCF-7	breast:	n/a	n/a
3	YY1	chr11:65083019-65083371	GM12892	blood:	n/a	chr11:65083225-65083239 chr11:65083223-65083234
4	MYC	chr11:65082918-65084197	MCF10A-Er-Src	breast:	n/a	chr11:65084019-65084029
5	ZNF263	chr11:65082864-65083471	HEK293-T-REx	kidney:	n/a	chr11:65082986-65082995 chr11:65083318-65083327
6	MTA3	chr11:65082861-65083473	GM12878	blood:	n/a	n/a
7	MAX	chr11:65083036-65083282	HepG2	liver:	n/a	n/a
8	HDAC2	chr11:65082965-65083443	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:65081889-65083394	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:65081754-65083562	K562	blood:	n/a	n/a
11	MAX	chr11:65081658-65083483	K562	blood:	n/a	chr11:65082096-65082105 chr11:65081854-65081863 chr11:65082895-65082905
12	E2F6	chr11:65083029-65083317	K562	blood:	n/a	n/a
13	CTCF	chr11:65083038-65083416	A549	lung:	n/a	chr11:65083213-65083226 chr11:65083212-65083228 chr11:65083206-65083227 chr11:65083211-65083229 chr11:65083213-65083226 chr11:65083216-65083229
14	CHD2	chr11:65081953-65083368	Hela-S3	cervix:	n/a	chr11:65082498-65082508 chr11:65083316-65083326 chr11:65082488-65082498
15	NFIC	chr11:65082831-65083533	HepG2	liver:	n/a	n/a
16	GATA3	chr11:65082032-65083382	A549	lung:	n/a	chr11:65082266-65082274 chr11:65082771-65082784
17	GABPA	chr11:65082841-65083169	A549	lung:	n/a	n/a
18	BCLAF1	chr11:65082975-65083415	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:65081851-65083319	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr11:65081975-65083243	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:65081776-65083456	U87	brain:	n/a	n/a
22	MAX	chr11:65082819-65083580	H1-hESC	embryonic stem cell:	n/a	chr11:65082895-65082905
23	TBL1XR1	chr11:65083053-65083268	K562	blood:	n/a	n/a
24	RAD21	chr11:65082944-65083480	Hela-S3	cervix:	n/a	chr11:65083209-65083228 chr11:65083213-65083227 chr11:65083276-65083290
25	JUND	chr11:65082803-65083458	A549	lung:	n/a	n/a
26	MYC	chr11:65081689-65083710	A549	lung:	n/a	chr11:65082096-65082105 chr11:65081854-65081863 chr11:65082895-65082905
27	POLR2A	chr11:65082112-65083531	H1-neurons	neurons:	n/a	n/a
28	MYC	chr11:65082857-65083402	Hela-S3	cervix:	n/a	chr11:65082895-65082905
29	BACH1	chr11:65082896-65083222	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr11:65082900-65083429	K562	blood:	n/a	n/a
31	TAF7	chr11:65082799-65083410	H1-hESC	embryonic stem cell:	n/a	n/a
32	EBF1	chr11:65083026-65083270	GM12878	blood:	n/a	n/a
33	E2F6	chr11:65082856-65083623	H1-hESC	embryonic stem cell:	n/a	chr11:65083313-65083325
34	MXI1	chr11:65081576-65084865	SK-N-SH	brain:	n/a	n/a
35	RAD21	chr11:65081663-65083962	SK-N-SH	brain:	n/a	chr11:65083209-65083228 chr11:65083213-65083227 chr11:65081887-65081894 chr11:65083276-65083290
36	MAX	chr11:65082759-65083483	ECC-1	luminal epithelium:	n/a	chr11:65082895-65082905
37	TEAD4	chr11:65082888-65083680	K562	blood:	n/a	n/a
38	SMC3	chr11:65081767-65083885	SK-N-SH	brain:	n/a	chr11:65082165-65082175 chr11:65083213-65083223 chr11:65083213-65083227
39	POLR2A	chr11:65082706-65083337	PANC-1	pancreas:	n/a	n/a
40	ZBTB7A	chr11:65082739-65083379	HepG2	liver:	n/a	chr11:65083212-65083221 chr11:65082906-65082914 chr11:65083024-65083033
41	ZNF143	chr11:65083030-65083641	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3AK20	chr11:65082943-65083287	HepG2	liver:	n/a	n/a
43	RAD21	chr11:65082998-65083435	GM12878	blood:	n/a	chr11:65083209-65083228 chr11:65083213-65083227 chr11:65083276-65083290
44	ZNF143	chr11:65083049-65083562	K562	blood:	n/a	n/a
45	POLR2A	chr11:65081960-65084648	IMR90	lung:	n/a	n/a
46	CHD1	chr11:65081648-65085415	IMR90	lung:	n/a	chr11:65082498-65082508 chr11:65083316-65083326 chr11:65082488-65082498 chr11:65084855-65084865 chr11:65084802-65084812
47	CTCF	chr11:65082883-65083639	HCT-116	colon:	n/a	chr11:65083213-65083226 chr11:65083212-65083228 chr11:65083206-65083227 chr11:65083211-65083229 chr11:65083213-65083226 chr11:65083216-65083229
48	YY1	chr11:65082992-65083373	K562	blood:	n/a	chr11:65083225-65083239 chr11:65083223-65083234
49	ELK4	chr11:65083007-65083235	Hela-S3	cervix:	n/a	n/a
50	USF1	chr11:65083017-65083453	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64992972..64993724-chr11:65082707..65083305,4	K562	blood:
2	chr11:65060136..65062858-chr11:65077231..65083212,5	K562	blood:
3	chr11:65027502..65029318-chr11:65081265..65083607,2	K562	blood:
4	chr11:65082224..65084911-chr11:65099875..65102878,3	K562	blood:
5	chr11:65083030..65083556-chr11:65278266..65278827,2	MCF-7	breast:
6	chr11:65081427..65084124-chr11:65189898..65193664,4	K562	blood:
7	chr11:64972244..64972959-chr11:65082972..65083582,3	K562	blood:
8	chr11:65081201..65083940-chr11:65084529..65087415,2	K562	blood:
9	chr11:65081631..65084592-chr11:65099872..65104597,5	K562	blood:
10	chr11:65042082..65043119-chr11:65082469..65083465,6	MCF-7	breast:
11	chr11:65082593..65083477-chr2:232328717..232329309,2	NB4	blood:
12	chr11:65082107..65083673-chr11:65189217..65191365,2	MCF-7	breast:
13	chr11:65082835..65083713-chr11:65096911..65098005,7	MCF-7	breast:
14	chr11:64645160..64647408-chr11:65080658..65083337,2	MCF-7	breast:
15	chr11:65082505..65084241-chr11:65264979..65266487,2	MCF-7	breast:
16	chr11:65027939..65030134-chr11:65081779..65083802,2	MCF-7	breast:
17	chr11:65082714..65084483-chr11:65273862..65276637,2	MCF-7	breast:
18	chr11:65082652..65084199-chr11:65148129..65151019,2	K562	blood:
19	chr11:65029024..65031738-chr11:65081307..65084090,2	K562	blood:
20	chr11:65049333..65051598-chr11:65082376..65084933,2	K562	blood:
21	chr11:65081725..65083668-chr11:65190037..65191956,2	MCF-7	breast:
22	chr11:65067238..65069227-chr11:65082339..65083846,2	MCF-7	breast:
23	chr11:65082396..65084824-chr11:65098924..65101432,3	MCF-7	breast:
24	chr11:65082453..65085480-chr11:65264257..65268362,4	K562	blood:
25	chr11:65045088..65048799-chr11:65081591..65084821,5	MCF-7	breast:
26	chr11:65082393..65084495-chr11:65317065..65320000,2	MCF-7	breast:
27	chr11:65082018..65083571-chr11:65121331..65123313,2	MCF-7	breast:
28	chr11:65082872..65083624-chr11:65097156..65098099,4	MCF-7	breast:
29	chr11:65081207..65084199-chr11:65149055..65151019,2	K562	blood:
30	chr11:65028586..65031401-chr11:65080311..65084684,5	MCF-7	breast:
31	chr11:65081241..65085742-chr11:65099388..65103053,6	MCF-7	breast:

Variant related genes	Relation type
CDC42EP2	TF binding region
ENSG00000014138	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000162241	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000115053	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17881362	1.00[AMR][1000 genomes]
rs56941891	1.00[AMR][1000 genomes]
rs58175858	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60560944	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482232	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482946	1.00[AMR][1000 genomes]
rs73482948	1.00[AMR][1000 genomes]
rs73482966	1.00[AMR][1000 genomes]
rs73482968	1.00[AMR][1000 genomes]
rs73482973	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482979	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484946	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484983	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484993	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897714	chr11:65076918-65091609	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr11:65079200-65085400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:65081200-65083800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:65081400-65083200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:65081400-65083200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr11:65081400-65083600	Active TSS	Brain Hippocampus Middle	brain
6	chr11:65081400-65083600	Active TSS	Fetal Stomach	stomach
7	chr11:65081400-65084400	Active TSS	HSMM	muscle
8	chr11:65081400-65084800	Active TSS	Lung	lung
9	chr11:65081400-65084800	Active TSS	Right Ventricle	heart
10	chr11:65081400-65085000	Active TSS	Right Atrium	heart
11	chr11:65081400-65085000	Active TSS	NHLF	lung
12	chr11:65081400-65085400	Active TSS	NHDF-Ad	bronchial
13	chr11:65081600-65083200	Active TSS	Duodenum Mucosa	Duodenum
14	chr11:65081600-65083400	Active TSS	Spleen	Spleen
15	chr11:65081600-65085000	Active TSS	Fetal Kidney	kidney
16	chr11:65081600-65085000	Active TSS	Left Ventricle	heart
17	chr11:65081800-65083200	Active TSS	Aorta	Aorta
18	chr11:65081800-65083400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:65081800-65083400	Active TSS	Colon Smooth Muscle	Colon
20	chr11:65081800-65083400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr11:65081800-65083400	Active TSS	Fetal Brain Female	brain
22	chr11:65081800-65083400	Active TSS	Fetal Lung	lung
23	chr11:65081800-65083400	Active TSS	Gastric	stomach
24	chr11:65081800-65083400	Active TSS	Ovary	ovary
25	chr11:65081800-65083600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:65081800-65083600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:65081800-65083600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:65081800-65083800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr11:65081800-65083800	Active TSS	Small Intestine	intestine
30	chr11:65081800-65084000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr11:65081800-65084000	Active TSS	Esophagus	oesophagus
32	chr11:65081800-65085000	Active TSS	Psoas Muscle	Psoas
33	chr11:65082000-65083200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr11:65082000-65083200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:65082000-65083200	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr11:65082000-65083200	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:65082000-65083200	Active TSS	Brain Cingulate Gyrus	brain
38	chr11:65082000-65083200	Active TSS	Fetal Heart	heart
39	chr11:65082000-65083200	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr11:65082000-65083200	Active TSS	NH-A	brain
41	chr11:65082000-65083400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr11:65082000-65083400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:65082000-65083400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:65082000-65083400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:65082000-65083400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:65082000-65083400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr11:65082000-65083400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr11:65082000-65083400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:65082000-65083400	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr11:65082000-65083400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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