Variant report

Variant	nsv973054
Chromosome Location	chr12:34310324-34359169
allele	n/a
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	ATF1	chr12:34340026-34340130	K562	blood:	n/a	n/a
2	BHLHE40	chr12:34357708-34357899	K562	blood:	n/a	n/a
3	BHLHE40	chr12:34328719-34328742	GM12878	blood:	n/a	n/a
4	CEBPB	chr12:34341921-34342283	IMR90	lung:	n/a	chr12:34342091-34342100 chr12:34342091-34342102 chr12:34342119-34342132 chr12:34342120-34342131 chr12:34342089-34342102 chr12:34342089-34342100 chr12:34342119-34342130
5	CEBPB	chr12:34342050-34342161	H1-hESC	embryonic stem cell:	n/a	chr12:34342091-34342100 chr12:34342091-34342102 chr12:34342119-34342132 chr12:34342120-34342131 chr12:34342089-34342102 chr12:34342089-34342100 chr12:34342119-34342130
6	CEBPB	chr12:34341968-34342276	HepG2	liver:	n/a	chr12:34342091-34342100 chr12:34342091-34342102 chr12:34342119-34342132 chr12:34342120-34342131 chr12:34342089-34342102 chr12:34342089-34342100 chr12:34342119-34342130
7	CEBPB	chr12:34343145-34343281	HepG2	liver:	n/a	chr12:34343170-34343181
8	CEBPB	chr12:34341977-34342278	A549	lung:	n/a	chr12:34342091-34342100 chr12:34342091-34342102 chr12:34342119-34342132 chr12:34342120-34342131 chr12:34342089-34342102 chr12:34342089-34342100 chr12:34342119-34342130
9	CEBPB	chr12:34341921-34342286	K562	blood:	n/a	chr12:34342091-34342100 chr12:34342091-34342102 chr12:34342119-34342132 chr12:34342120-34342131 chr12:34342089-34342102 chr12:34342089-34342100 chr12:34342119-34342130
10	CTCF	chr12:34339560-34339710	HepG2	liver:	n/a	n/a
11	CTCF	chr12:34339560-34339710	A549	lung:	n/a	n/a
12	CTCF	chr12:34343470-34343533	ProgFib	skin:	n/a	n/a
13	CTCF	chr12:34339580-34339730	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:34339371-34339819	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:34339578-34339709	HepG2	liver:	n/a	n/a
16	CTCF	chr12:34339560-34339710	GM12873	blood:	n/a	n/a
17	CTCF	chr12:34339540-34339690	Caco-2	colon:	n/a	n/a
18	CTCF	chr12:34339421-34339794	K562	blood:	n/a	n/a
19	CTCF	chr12:34339524-34339682	HepG2	liver:	n/a	n/a
20	CTCF	chr12:34333015-34333147	GM10248	blood:	n/a	n/a
21	CTCF	chr12:34323860-34324010	Caco-2	colon:	n/a	n/a
22	CTCF	chr12:34347424-34347439	GM10248	blood:	n/a	n/a
23	CTCF	chr12:34356499-34356528	GM13976	blood:	n/a	n/a
24	CTCF	chr12:34339571-34339669	Gliobla	brain:	n/a	n/a
25	CTCF	chr12:34347390-34347443	GM13977	blood:	n/a	n/a
26	CTCF	chr12:34343427-34343533	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:34339600-34339750	HCT-116	colon:	n/a	n/a
28	CTCF	chr12:34323960-34324110	K562	blood:	n/a	n/a
29	CTCF	chr12:34347339-34347442	GM20000	blood:	n/a	n/a
30	CTCF	chr12:34339598-34339689	LNCaP	prostate:	n/a	n/a
31	CTCF	chr12:34339627-34339649	GM10248	blood:	n/a	n/a
32	CTCF	chr12:34339486-34339775	MCF-7	breast:	n/a	n/a
33	CTCF	chr12:34339353-34339949	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:34314440-34314590	GM12873	blood:	n/a	n/a
35	CTCF	chr12:34339520-34339670	GM12871	blood:	n/a	n/a
36	CTCF	chr12:34339640-34339790	HL-60	blood:	n/a	n/a
37	CTCF	chr12:34347440-34347456	GM10248	blood:	n/a	n/a
38	CTCF	chr12:34347414-34347417	GM10266	blood:	n/a	n/a
39	CTCF	chr12:34339524-34339769	T-47D	breast:	n/a	n/a
40	CTCF	chr12:34347371-34347413	GM10266	blood:	n/a	n/a
41	CTCF	chr12:34341586-34341651	GM10266	blood:	n/a	n/a
42	CTCF	chr12:34335087-34335161	GM10248	blood:	n/a	n/a
43	CTCF	chr12:34339602-34339679	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr12:34339560-34339710	HEK293	kidney:	n/a	n/a
45	CTCF	chr12:34323980-34324130	AG09309	skin:	n/a	n/a
46	CTCF	chr12:34339600-34339750	NHEK	skin:	n/a	n/a
47	CTCF	chr12:34339547-34339726	LNCaP	prostate:	n/a	n/a
48	CTCF	chr12:34323980-34324130	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:34339537-34339754	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:34343340-34343490	GM12867	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:34319822-34319872	HL-60	blood:	n/a
2	chr12:34319822-34319872	HL-60	blood:	n/a
3	chr12:34320121-34320171	A549	lung:	n/a
4	chr12:34319822-34319872	SAEC	small airway:	n/a
5	chr12:34317983-34318033	MCF10A-Er-Src	breast:	n/a
6	chr12:34318704-34318754	NT2-D1	testis:	n/a
7	chr12:34319740-34319790	HCPEpiC	choroid plexus:	n/a
8	chr12:34320121-34320171	BE2_C	brain:	n/a
9	chr12:34319822-34319872	GM12878	blood:	n/a
10	chr12:34319740-34319790	MCF10A-Er-Src	breast:	n/a
11	chr12:34318115-34318165	Hela-S3	cervix:	n/a
12	chr12:34320121-34320171	HNPCEpiC	eye:	n/a
13	chr12:34323943-34323993	A549	lung:	n/a
14	chr12:34319822-34319872	NB4	blood:	n/a
15	chr12:34319939-34319989	PrEC	prostate:	n/a
16	chr12:34323943-34323993	AG10803	skin:	n/a
17	chr12:34317569-34317619	HMEC	breast:	n/a
18	chr12:34319740-34319790	ECC-1	luminal epithelium:	n/a
19	chr12:34317983-34318033	MCF-7	breast:	n/a
20	chr12:34358399-34358449	LNCaP	prostate:	n/a
21	chr12:34317983-34318033	SAEC	small airway:	n/a
22	chr12:34319734-34319784	HCM	heart:	n/a
23	chr12:34317983-34318033	PrEC	prostate:	n/a
24	chr12:34319734-34319784	LNCaP	prostate:	n/a
25	chr12:34318115-34318165	HNPCEpiC	eye:	n/a
26	chr12:34319740-34319790	AG09309	skin:	n/a
27	chr12:34319740-34319790	RPTEC	kidney:	n/a
28	chr12:34319939-34319989	BE2_C	brain:	n/a
29	chr12:34319822-34319872	PFSK-1	brain:	n/a
30	chr12:34318704-34318754	HCT-116	colon:	n/a
31	chr12:34319740-34319790	SK-N-SH	brain:	n/a
32	chr12:34317983-34318033	AG04449	skin:	fetal
33	chr12:34317569-34317619	HNPCEpiC	eye:	n/a
34	chr12:34319734-34319784	HMEC	breast:	n/a
35	chr12:34318704-34318754	BE2_C	brain:	n/a
36	chr12:34318527-34318577	HRPEpiC	eye:	n/a
37	chr12:34318704-34318754	SKMC	muscle:	n/a
38	chr12:34320121-34320171	IMR90	lung:	fetal
39	chr12:34319822-34319872	HAEpiC	amniotic membrane:	n/a
40	chr12:34358399-34358449	K562	blood:	n/a
41	chr12:34317569-34317619	MCF10A-Er-Src	breast:	n/a
42	chr12:34319939-34319989	ECC-1	luminal epithelium:	n/a
43	chr12:34317983-34318033	AG09309	skin:	n/a
44	chr12:34319822-34319872	GM06990	blood:	n/a
45	chr12:34319822-34319872	AG09309	skin:	n/a
46	chr12:34319740-34319790	Hepatocyte	liver:	n/a
47	chr12:34318115-34318165	AG09309	skin:	n/a
48	chr12:34318527-34318577	PrEC	prostate:	n/a
49	chr12:34323943-34323993	NH-A	brain:	n/a
50	chr12:34319740-34319790	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:34275679..34276702-chr12:34339057..34340086,5	MCF-7	breast:
2	chr12:34275785..34276629-chr12:34339119..34339912,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10-3	chr12:34315397-34315903	NONHSAT027653
2	lnc-ALG10-2	chr12:34315112-34315173	ENSG00000255628

Variant related genes	Relation type
ENSG00000256986	TF binding region
ENSG00000272435	TF binding region
TUBB8P4	TF binding region
ENSG00000256986	CpG island
ENSG00000272435	CpG island
TUBB8P4	CpG island

Extended variants
information (count: 1055 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1055 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552516542	chr12:34310800-34310801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368437964	chr12:34310817-34310818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142260769	chr12:34310824-34310825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs187138310	chr12:34310834-34310835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201375499	chr12:34310862-34310863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs202046377	chr12:34310884-34310885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs151285208	chr12:34310905-34310906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs80225474	chr12:34310924-34310925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547135785	chr12:34311467-34311468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs75178095	chr12:34313834-34313835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs55679728	chr12:34313841-34313842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546526698	chr12:34313848-34313849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs75803311	chr12:34313874-34313875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs78109593	chr12:34313884-34313885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs116141512	chr12:34313899-34313900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs199803103	chr12:34313903-34313904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201171083	chr12:34313929-34313930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534258591	chr12:34313975-34313976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112959599	chr12:34313977-34313978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs180765365	chr12:34313996-34313997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs554059458	chr12:34314034-34314035	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs573967526	chr12:34314044-34314045	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs145611649	chr12:34314067-34314068	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs74073504	chr12:34314115-34314116	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576499046	chr12:34314116-34314117	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185216876	chr12:34314118-34314119	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs188514944	chr12:34314129-34314130	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs527670337	chr12:34314140-34314141	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs547776091	chr12:34314162-34314163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560470357	chr12:34314207-34314208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148836111	chr12:34314281-34314282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548912686	chr12:34314293-34314294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569031822	chr12:34314307-34314308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567969938	chr12:34314315-34314316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181599834	chr12:34314331-34314332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs528930148	chr12:34314332-34314333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550241837	chr12:34314352-34314353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs11613903	chr12:34314362-34314363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs79922818	chr12:34314366-34314367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78826540	chr12:34314371-34314372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113687782	chr12:34314417-34314418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs373325645	chr12:34314426-34314427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs58974949	chr12:34314428-34314429	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs75894858	chr12:34314469-34314470	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs568648732	chr12:34314508-34314509	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533565491	chr12:34314533-34314534	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs553305388	chr12:34314540-34314541	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs569893751	chr12:34314563-34314564	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567629677	chr12:34314567-34314568	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs537587626	chr12:34314570-34314571	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34314000-34320600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:34319200-34320200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:34319800-34320000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:34328600-34328800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
5	chr12:34336800-34345400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr12:34338000-34340200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr12:34339200-34340000	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:34340000-34341600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:34341200-34341600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:34341400-34341800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr12:34341600-34342200	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:34342200-34342600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:34342400-34343000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:34342400-34343400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:34342600-34343800	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:34342600-34343800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:34342600-34344400	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:34343000-34343600	Enhancers	Primary B cells from cord blood	blood
19	chr12:34343400-34343600	Enhancers	Spleen	Spleen
20	chr12:34356800-34359400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:34357000-34358400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:34357000-34359200	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:34357200-34357600	Enhancers	Primary B cells from cord blood	blood
24	chr12:34357600-34357800	Enhancers	Spleen	Spleen
25	chr12:34358400-34358600	Enhancers	Spleen	Spleen
26	chr12:34358800-34359000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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