Variant report

Variant	rs73482232
Chromosome Location	chr11:65078437-65078438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TFAP2C	chr11:65078328-65079185	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:65077791-65078823	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:65078112-65078871	MCF-7	breast:	n/a	n/a
4	STAT3	chr11:65078417-65078567	MCF10A-Er-Src	breast:	n/a	n/a
5	RCOR1	chr11:65078358-65079255	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:65077655-65079212	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr11:65078296-65079270	MCF10A-Er-Src	breast:	n/a	chr11:65079105-65079116
8	POLR2A	chr11:65078105-65079374	U87	brain:	n/a	n/a
9	POLR2A	chr11:65078315-65079162	HL-60	blood:	n/a	n/a
10	POLR2A	chr11:65078420-65079220	U87	brain:	n/a	n/a
11	ZNF263	chr11:65078337-65078558	HEK293-T-REx	kidney:	n/a	n/a
12	POLR2A	chr11:65078374-65079195	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:65078381-65079254	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:65078067-65079380	U87	brain:	n/a	n/a
15	STAT3	chr11:65078417-65078480	MCF10A-Er-Src	breast:	n/a	n/a
16	SMC3	chr11:65078415-65079193	Hela-S3	cervix:	n/a	n/a
17	FOS	chr11:65078419-65079219	MCF10A-Er-Src	breast:	n/a	n/a
18	TFAP2A	chr11:65078324-65079132	Hela-S3	cervix:	n/a	chr11:65078915-65078926
19	STAT3	chr11:65078409-65078504	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:65077700-65080063	HepG2	liver:	n/a	n/a
21	MYC	chr11:65078376-65079195	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:65078353-65079070	K562	blood:	n/a	n/a
23	TCF7L2	chr11:65078367-65079221	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr11:65078400-65078550	WERI-Rb-1	eye:	n/a	n/a
25	POLR2A	chr11:65077702-65079184	ECC-1	luminal epithelium:	n/a	n/a
26	STAT3	chr11:65078408-65078504	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:65077468-65079228	SK-N-MC	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65060136..65062858-chr11:65077231..65083212,5	K562	blood:
2	chr11:65045586..65047170-chr11:65078296..65080185,2	MCF-7	breast:
3	chr11:65075418..65078976-chr11:65080570..65084670,6	MCF-7	breast:
4	chr11:65077300..65079510-chr20:52343639..52345662,2	MCF-7	breast:
5	chr11:65077010..65079617-chr11:65101633..65103467,2	K562	blood:
6	chr11:65074798..65079854-chr11:65080462..65084374,8	K562	blood:
7	chr11:65073855..65075835-chr11:65076767..65078469,2	MCF-7	breast:
8	chr11:65072805..65075705-chr11:65077209..65079832,4	K562	blood:

No data

Variant related genes	Relation type
CDC42EP2	TF binding region
ENSG00000014138	Chromatin interaction
ENSG00000149798	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17881362	1.00[AMR][1000 genomes]
rs4149847	0.94[AFR][1000 genomes]
rs56941891	1.00[AMR][1000 genomes]
rs58175858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60560944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482946	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482948	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482966	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7946909	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65063800-65081200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr11:65065000-65081800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:65065000-65081800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:65066000-65081800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:65066400-65080800	Weak transcription	Brain Germinal Matrix	brain
6	chr11:65066600-65081600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:65066600-65081800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:65067000-65081800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:65068200-65079200	Genic enhancers	Fetal Intestine Small	intestine
10	chr11:65068600-65079800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:65072000-65081000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:65072800-65081800	Weak transcription	Dnd41	blood
13	chr11:65073400-65079000	Weak transcription	Thymus	Thymus
14	chr11:65074200-65079200	Genic enhancers	Fetal Stomach	stomach
15	chr11:65074800-65079400	Enhancers	NHDF-Ad	bronchial
16	chr11:65075000-65078800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr11:65075000-65078800	Enhancers	Left Ventricle	heart
18	chr11:65075000-65079200	Enhancers	Right Ventricle	heart
19	chr11:65075000-65079800	Bivalent Enhancer	Placenta	Placenta
20	chr11:65075200-65079200	Enhancers	Lung	lung
21	chr11:65075400-65080800	Enhancers	Duodenum Mucosa	Duodenum
22	chr11:65075600-65079800	Enhancers	Spleen	Spleen
23	chr11:65075800-65079800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:65076400-65081000	Weak transcription	Fetal Heart	heart
25	chr11:65076400-65081000	Weak transcription	Fetal Kidney	kidney
26	chr11:65076400-65081800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:65076600-65080000	Enhancers	Fetal Muscle Trunk	muscle
28	chr11:65076600-65080600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr11:65076600-65080800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:65076600-65081800	Weak transcription	GM12878-XiMat	blood
31	chr11:65076800-65081000	Enhancers	Fetal Muscle Leg	muscle
32	chr11:65076800-65081800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:65076800-65081800	Weak transcription	K562	blood
34	chr11:65077000-65078600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:65077000-65081000	Weak transcription	HUVEC	blood vessel
36	chr11:65077200-65079000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:65077200-65079200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:65077200-65079400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:65077200-65079800	Enhancers	HepG2	liver
40	chr11:65077400-65078600	Enhancers	Brain Anterior Caudate	brain
41	chr11:65077400-65079000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:65077400-65079000	Enhancers	Right Atrium	heart
43	chr11:65077400-65079200	Enhancers	Brain Hippocampus Middle	brain
44	chr11:65077400-65079200	Enhancers	Fetal Lung	lung
45	chr11:65077400-65079200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr11:65077400-65079400	Enhancers	Fetal Intestine Large	intestine
47	chr11:65077400-65079400	Enhancers	A549	lung
48	chr11:65077600-65078600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:65077600-65078600	Weak transcription	Ovary	ovary
50	chr11:65077600-65078800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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