Variant report

Variant	nsv329
Chromosome Location	chr11:58451044-58478290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:124)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:58473740-58473890	HEK293	kidney:	n/a	n/a
2	CTCF	chr11:58464366-58464472	GM10248	blood:	n/a	n/a
3	CTCF	chr11:58473724-58473925	K562	blood:	n/a	n/a
4	CTCF	chr11:58473800-58473950	GM12872	blood:	n/a	n/a
5	CTCF	chr11:58473773-58473843	HepG2	liver:	n/a	n/a
6	CTCF	chr11:58474120-58474270	GM12875	blood:	n/a	n/a
7	CTCF	chr11:58473740-58473890	K562	blood:	n/a	n/a
8	CTCF	chr11:58472135-58472178	GM10248	blood:	n/a	n/a
9	CTCF	chr11:58473797-58473863	GM12878	blood:	n/a	n/a
10	CTCF	chr11:58474100-58474250	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:58474540-58474690	HepG2	liver:	n/a	n/a
12	CTCF	chr11:58473723-58473960	K562	blood:	n/a	n/a
13	CTCF	chr11:58473768-58473964	K562	blood:	n/a	n/a
14	CTCF	chr11:58464361-58464472	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr11:58473737-58473907	K562	blood:	n/a	n/a
16	FOS	chr11:58456247-58456876	MCF10A-Er-Src	breast:	n/a	chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456441-58456449 chr11:58456440-58456450
17	FOS	chr11:58456258-58456841	MCF10A-Er-Src	breast:	n/a	chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456441-58456449 chr11:58456440-58456450
18	FOS	chr11:58456275-58456778	MCF10A-Er-Src	breast:	n/a	chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456441-58456449 chr11:58456440-58456450
19	FOS	chr11:58456320-58456656	MCF10A-Er-Src	breast:	n/a	chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456441-58456449 chr11:58456440-58456450
20	KAP1	chr11:58475248-58475702	HEK293	kidney:	n/a	n/a
21	MYC	chr11:58456276-58456642	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr11:58456392-58456675	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr11:58453722-58453724	NB4	blood:	n/a	n/a
24	NRF1	chr11:58459077-58459080	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:58471734-58471811	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:58456332-58456428	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:58456283-58456876	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr11:58456366-58456531	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:58459138-58459632	HL-60	blood:	n/a	n/a
30	POLR2A	chr11:58456372-58456873	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr11:58459202-58459555	HL-60	blood:	n/a	n/a
32	POLR2A	chr11:58461923-58462057	GM12878	blood:	n/a	n/a
33	RAD21	chr11:58473745-58473925	K562	blood:	n/a	n/a
34	RAD21	chr11:58473758-58473881	K562	blood:	n/a	n/a
35	SETDB1	chr11:58475284-58475633	U2OS	brain:	n/a	n/a
36	STAT3	chr11:58470159-58470359	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr11:58456359-58456766	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr11:58456356-58456817	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr11:58468004-58468182	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr11:58456325-58456677	MCF10A-Er-Src	breast:	n/a	n/a
41	ZNF143	chr11:58475356-58475556	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF274	chr11:58463187-58463489	K562	blood:	n/a	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58477085-58477135	CMK	blood:	n/a
2	chr11:58477379-58477429	PrEC	prostate:	n/a
3	chr11:58477085-58477135	CMK	blood:	n/a
4	chr11:58477379-58477429	PrEC	prostate:	n/a
5	chr11:58477379-58477429	SAEC	small airway:	n/a
6	chr11:58477085-58477135	U87	brain:	n/a
7	chr11:58477085-58477135	K562	blood:	n/a
8	chr11:58477085-58477135	HepG2	liver:	n/a
9	chr11:58477085-58477135	HCT-116	colon:	n/a
10	chr11:58477379-58477429	SKMC	muscle:	n/a
11	chr11:58477085-58477135	ProgFib	skin:	n/a
12	chr11:58477379-58477429	NHDF-neo	bronchial:	n/a
13	chr11:58477379-58477429	SK-N-SH_RA	brain:	n/a
14	chr11:58477085-58477135	AG04449	skin:	fetal
15	chr11:58477085-58477135	HUVEC	blood vessel:	n/a
16	chr11:58477085-58477135	PFSK-1	brain:	n/a
17	chr11:58477085-58477135	GM19239	blood:	n/a
18	chr11:58477085-58477135	GM12892	blood:	n/a
19	chr11:58477379-58477429	HL-60	blood:	n/a
20	chr11:58477085-58477135	HL-60	blood:	n/a
21	chr11:58477379-58477429	AG10803	skin:	n/a
22	chr11:58477085-58477135	AG10803	skin:	n/a
23	chr11:58477085-58477135	NB4	blood:	n/a
24	chr11:58477379-58477429	NB4	blood:	n/a
25	chr11:58477085-58477135	MCF-7	breast:	n/a
26	chr11:58477085-58477135	HEK293	kidney:	embryo
27	chr11:58477085-58477135	SAEC	small airway:	n/a
28	chr11:58477085-58477135	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:58477085-58477135	MCF10A-Er-Src	breast:	n/a
30	chr11:58477379-58477429	ProgFib	skin:	n/a
31	chr11:58477379-58477429	BE2_C	brain:	n/a
32	chr11:58477379-58477429	HUVEC	blood vessel:	n/a
33	chr11:58477085-58477135	HRE	kidney:	n/a
34	chr11:58477085-58477135	Caco-2	colon:	n/a
35	chr11:58477379-58477429	PANC-1	pancreas:	n/a
36	chr11:58477085-58477135	PANC-1	pancreas:	n/a
37	chr11:58477379-58477429	A549	lung:	n/a
38	chr11:58477379-58477429	Jurkat	blood:	n/a
39	chr11:58477379-58477429	H1-hESC	embryonic stem cell:	embryo
40	chr11:58477085-58477135	HCF	heart:	n/a
41	chr11:58477379-58477429	T-47D	breast:	n/a
42	chr11:58477085-58477135	HAEpiC	amniotic membrane:	n/a
43	chr11:58477085-58477135	GM12878	blood:	n/a
44	chr11:58477085-58477135	AG09319	gingival:	n/a
45	chr11:58477085-58477135	SK-N-SH_RA	brain:	n/a
46	chr11:58477379-58477429	GM06990	blood:	n/a
47	chr11:58477085-58477135	SKMC	muscle:	n/a
48	chr11:58477379-58477429	LNCaP	prostate:	n/a
49	chr11:58477379-58477429	HRCEpiC	kidney:	n/a
50	chr11:58477379-58477429	AG09319	gingival:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:58455564..58457856-chr11:58460321..58462093,2	K562	blood:
2	chr11:58455564..58457856-chr11:58460321..58462093,2	K562	blood:
3	chr11:58469853..58471664-chr11:58475530..58477386,2	K562	blood:
4	chr11:58469853..58471664-chr11:58475530..58477386,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GLYAT	hsa-miR-30b-5p	chr11:58476269-58476289
2	GLYAT	hsa-miR-30a-5p	chr11:58476269-58476290

Variant related genes	Relation type
ENSG00000197254	TF binding region
ENSG00000197254	CpG island

Extended variants
information (count: 733 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545196480	chr11:58453426-58453427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553900550	chr11:58453427-58453428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370403657	chr11:58453453-58453454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551147229	chr11:58453455-58453456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572280747	chr11:58453467-58453468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542898667	chr11:58453506-58453507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561154771	chr11:58453507-58453508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571236114	chr11:58453516-58453517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs609036	chr11:58453529-58453530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs543381893	chr11:58453587-58453588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140549940	chr11:58453628-58453629	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs532197841	chr11:58453633-58453634	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs547184522	chr11:58453655-58453656	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191437809	chr11:58453679-58453680	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs527876043	chr11:58453700-58453701	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs183707041	chr11:58453715-58453716	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs549206128	chr11:58453736-58453737	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs34170594	chr11:58453769-58453770	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs567604990	chr11:58453833-58453834	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538184577	chr11:58453880-58453881	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs550121551	chr11:58453907-58453908	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs571569478	chr11:58453910-58453911	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs35050456	chr11:58453983-58453984	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573632317	chr11:58454007-58454008	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs611191	chr11:58454010-58454011	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs611223	chr11:58454027-58454028	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187541355	chr11:58454035-58454036	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374913601	chr11:58454037-58454038	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs554829618	chr11:58454068-58454069	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs144408181	chr11:58454119-58454120	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73472048	chr11:58454121-58454122	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564856445	chr11:58454122-58454123	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs139783449	chr11:58454166-58454167	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs541066295	chr11:58454197-58454198	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541531260	chr11:58454220-58454221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559012713	chr11:58454254-58454255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140541581	chr11:58454257-58454258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71929142	chr11:58454258-58454259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386373885	chr11:58454260-58454261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74309177	chr11:58454261-58454262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60232230	chr11:58454262-58454263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372283228	chr11:58454377-58454378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371141567	chr11:58454447-58454448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549144563	chr11:58454453-58454454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543488466	chr11:58454459-58454460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190868095	chr11:58454552-58454553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561168092	chr11:58454561-58454562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568988070	chr11:58454588-58454589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73472049	chr11:58454639-58454640	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550218897	chr11:58454699-58454700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58453400-58453600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:58453400-58453800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr11:58453400-58454000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:58453400-58454200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:58453400-58454200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr11:58453400-58456000	Enhancers	Primary hematopoietic stem cells	blood
7	chr11:58453600-58454000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:58453600-58454200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:58453600-58454200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr11:58453600-58454200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:58453800-58454600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:58454000-58454200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:58454200-58454400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:58454200-58457400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:58454400-58456400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:58454600-58455000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:58455000-58455200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:58455200-58458400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:58455800-58457600	Enhancers	HMEC	breast
20	chr11:58456000-58457200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:58456000-58457600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:58456000-58457600	Enhancers	NHEK	skin
23	chr11:58456200-58457400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:58456200-58457400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:58456200-58457800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:58456400-58459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:58457200-58461600	Enhancers	Primary hematopoietic stem cells	blood
28	chr11:58457400-58457600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:58457600-58457800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr11:58457800-58461200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:58458400-58459600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:58459200-58459800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr11:58459400-58460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:58459600-58460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:58460000-58460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:58460000-58462000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:58460400-58460800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:58460800-58462200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:58469200-58474600	ZNF genes & repeats	Liver	Liver
40	chr11:58470600-58471000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:58470600-58474400	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr11:58470800-58471800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:58474400-58476800	Weak transcription	Adipose Nuclei	Adipose
44	chr11:58474600-58476800	Weak transcription	Liver	Liver
45	chr11:58476800-58481800	Strong transcription	Adipose Nuclei	Adipose
46	chr11:58476800-58485400	Strong transcription	Liver	Liver
47	chr11:58477400-58478200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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