Variant report

Variant	nsv975330
Chromosome Location	chr11:59663142-59666889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:59666312-59666437	K562	blood:	n/a	n/a
2	BHLHE40	chr11:59666212-59666338	K562	blood:	n/a	n/a
3	CEBPB	chr11:59666059-59666473	Hela-S3	cervix:	n/a	n/a
4	CUX1	chr11:59666381-59666484	K562	blood:	n/a	n/a
5	EP300	chr11:59666240-59666500	K562	blood:	n/a	n/a
6	EP300	chr11:59666128-59666463	Hela-S3	cervix:	n/a	n/a
7	GATA2	chr11:59666113-59666529	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr11:59666157-59666566	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr11:59666193-59666452	SH-SY5Y	brain:	n/a	n/a
10	GATA3	chr11:59666087-59666654	MCF-7	breast:	n/a	n/a
11	GATA3	chr11:59665965-59666577	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr11:59666108-59666448	T-47D	breast:	n/a	n/a
13	JUND	chr11:59666183-59666466	K562	blood:	n/a	n/a
14	MAFF	chr11:59666156-59666480	K562	blood:	n/a	n/a
15	MAFK	chr11:59666199-59666485	K562	blood:	n/a	n/a
16	MAX	chr11:59666195-59666424	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:59666074-59666248	Gliobla	brain:	n/a	n/a
18	POLR2A	chr11:59666544-59666592	MCF10A-Er-Src	breast:	n/a	n/a
19	RAD21	chr11:59666201-59666444	Hela-S3	cervix:	n/a	n/a
20	RAD21	chr11:59666889-59667276	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr11:59666115-59666514	K562	blood:	n/a	n/a
22	RCOR1	chr11:59666249-59666457	K562	blood:	n/a	n/a
23	SMC3	chr11:59666080-59666279	Hela-S3	cervix:	n/a	n/a
24	STAT3	chr11:59666187-59666490	Hela-S3	cervix:	n/a	n/a
25	STAT3	chr11:59664487-59664555	MCF10A-Er-Src	breast:	n/a	n/a
26	TBL1XR1	chr11:59666281-59666483	K562	blood:	n/a	n/a
27	TEAD4	chr11:59666081-59666594	K562	blood:	n/a	n/a
28	USF2	chr11:59666134-59666155	Hela-S3	cervix:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:59664229-59664279	ovcar-3	ovarian:	n/a
2	chr11:59666274-59666324	K562	blood:	n/a
3	chr11:59664229-59664279	BE2_C	brain:	n/a
4	chr11:59664229-59664279	AG10803	skin:	n/a
5	chr11:59663124-59663174	NH-A	brain:	n/a
6	chr11:59665648-59665698	HCF	heart:	n/a
7	chr11:59665698-59665748	LNCaP	prostate:	n/a
8	chr11:59665786-59665836	AoSMC	blood vessel:	n/a
9	chr11:59665648-59665698	GM12878	blood:	n/a
10	chr11:59663124-59663174	HCT-116	colon:	n/a
11	chr11:59664229-59664279	HL-60	blood:	n/a
12	chr11:59665648-59665698	T-47D	breast:	n/a
13	chr11:59664229-59664279	SAEC	small airway:	n/a
14	chr11:59665786-59665836	AG04449	skin:	fetal
15	chr11:59665698-59665748	SK-N-SH	brain:	n/a
16	chr11:59665786-59665836	HRPEpiC	eye:	n/a
17	chr11:59663124-59663174	H1-hESC	embryonic stem cell:	embryo
18	chr11:59664229-59664279	Jurkat	blood:	n/a
19	chr11:59663124-59663174	HUVEC	blood vessel:	n/a
20	chr11:59665648-59665698	NT2-D1	testis:	n/a
21	chr11:59665786-59665836	Hepatocyte	liver:	n/a
22	chr11:59664229-59664279	HRCEpiC	kidney:	n/a
23	chr11:59665786-59665836	AG04450	lung:	fetal
24	chr11:59665786-59665836	ProgFib	skin:	n/a
25	chr11:59663124-59663174	Jurkat	blood:	n/a
26	chr11:59663124-59663174	PFSK-1	brain:	n/a
27	chr11:59663124-59663174	HCM	heart:	n/a
28	chr11:59666274-59666324	HNPCEpiC	eye:	n/a
29	chr11:59666274-59666324	HRPEpiC	eye:	n/a
30	chr11:59666274-59666324	HEEpiC	esophagus:	n/a
31	chr11:59664229-59664279	SK-N-MC	brain:	n/a
32	chr11:59666274-59666324	AG09319	gingival:	n/a
33	chr11:59665786-59665836	GM19239	blood:	n/a
34	chr11:59665648-59665698	NHDF-neo	bronchial:	n/a
35	chr11:59663124-59663174	HMEC	breast:	n/a
36	chr11:59665786-59665836	BJ	skin:	n/a
37	chr11:59665698-59665748	HepG2	liver:	n/a
38	chr11:59665698-59665748	HUVEC	blood vessel:	n/a
39	chr11:59665648-59665698	BE2_C	brain:	n/a
40	chr11:59665698-59665748	A549	lung:	n/a
41	chr11:59666274-59666324	NH-A	brain:	n/a
42	chr11:59665698-59665748	NH-A	brain:	n/a
43	chr11:59666274-59666324	NHDF-neo	bronchial:	n/a
44	chr11:59664229-59664279	GM12891	blood:	n/a
45	chr11:59666274-59666324	Hepatocyte	liver:	n/a
46	chr11:59665786-59665836	PrEC	prostate:	n/a
47	chr11:59665648-59665698	CMK	blood:	n/a
48	chr11:59663124-59663174	HRPEpiC	eye:	n/a
49	chr11:59664229-59664279	HCPEpiC	choroid plexus:	n/a
50	chr11:59666274-59666324	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59661730..59664350-chr11:59667223..59669290,2	K562	blood:

No data

Variant related genes	Relation type
SRD5A3P1	TF binding region
SRD5A3P1	CpG island

Extended variants
information (count: 137 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549364534	chr11:59663146-59663147	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs140841038	chr11:59663152-59663153	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs563352601	chr11:59663162-59663163	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs373091564	chr11:59663177-59663178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546167454	chr11:59663200-59663201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564255576	chr11:59663212-59663213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188021540	chr11:59663215-59663216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149805449	chr11:59663219-59663220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568211939	chr11:59663247-59663248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191642123	chr11:59663288-59663289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183639359	chr11:59663302-59663303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545494231	chr11:59663304-59663305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375947835	chr11:59663312-59663313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568969305	chr11:59663320-59663321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539481513	chr11:59663348-59663349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187736621	chr11:59663398-59663399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571087181	chr11:59663442-59663443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192649147	chr11:59663475-59663476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61678206	chr11:59663503-59663504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574654232	chr11:59663508-59663509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112945018	chr11:59663525-59663526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183563355	chr11:59663569-59663570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557081123	chr11:59663648-59663649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117210019	chr11:59663679-59663680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144668588	chr11:59663725-59663726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564475360	chr11:59663755-59663756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186556182	chr11:59663845-59663846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116523392	chr11:59663850-59663851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561867203	chr11:59663866-59663867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115962920	chr11:59663883-59663884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550786946	chr11:59663901-59663902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79201580	chr11:59663910-59663911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533037889	chr11:59663913-59663914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148517973	chr11:59663920-59663921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566432474	chr11:59663938-59663939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535019583	chr11:59663939-59663940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370035580	chr11:59663977-59663978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372721716	chr11:59664018-59664019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191333018	chr11:59664028-59664029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111516375	chr11:59664112-59664113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575351957	chr11:59664155-59664156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531435400	chr11:59664162-59664163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs517997	chr11:59664187-59664188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184709870	chr11:59664212-59664213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189571656	chr11:59664230-59664231	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs142971918	chr11:59664249-59664250	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs75308205	chr11:59664288-59664289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73490973	chr11:59664340-59664341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544448458	chr11:59664356-59664357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562644738	chr11:59664411-59664412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59660000-59666400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:59660000-59667000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:59660000-59668800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:59662800-59668200	Weak transcription	NHEK	skin
5	chr11:59662800-59668400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:59665600-59665800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:59665600-59665800	Enhancers	Fetal Brain Male	brain
8	chr11:59665800-59667200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:59666000-59666200	ZNF genes & repeats	Spleen	Spleen
10	chr11:59666000-59666400	Enhancers	K562	blood
11	chr11:59666000-59667000	Weak transcription	Fetal Brain Male	brain
12	chr11:59666000-59667200	Enhancers	Hela-S3	cervix
13	chr11:59666200-59669800	Weak transcription	Spleen	Spleen
14	chr11:59666400-59668800	Weak transcription	K562	blood
15	chr11:59666800-59667400	Enhancers	Dnd41	blood
16	chr11:59666800-59667600	Enhancers	HUVEC	blood vessel

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