Variant report

Variant	nsv558305
Chromosome Location	chr12:34285171-34357023
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	chr12:34328719-34328742	GM12878	blood:	n/a	n/a
3	BRCA1	chr12:34295564-34295571	GM12878	blood:	n/a	n/a
4	CBX3	chr12:34286882-34287265	K562	blood:	n/a	n/a
5	CBX3	chr12:34286464-34286764	K562	blood:	n/a	n/a
6	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
7	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
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	CEBPB	chr12:34343145-34343281	HepG2	liver:	n/a	chr12:34343170-34343181
11	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
12	CEBPB	chr12:34306824-34306969	IMR90	lung:	n/a	n/a
13	CTCF	chr12:34339560-34339710	GM12873	blood:	n/a	n/a
14	CTCF	chr12:34356499-34356528	GM13976	blood:	n/a	n/a
15	CTCF	chr12:34339578-34339709	HepG2	liver:	n/a	n/a
16	CTCF	chr12:34300540-34300690	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr12:34287113-34287137	GM10248	blood:	n/a	n/a
18	CTCF	chr12:34339598-34339689	LNCaP	prostate:	n/a	n/a
19	CTCF	chr12:34347424-34347439	GM10248	blood:	n/a	n/a
20	CTCF	chr12:34339560-34339710	HEK293	kidney:	n/a	n/a
21	CTCF	chr12:34339602-34339679	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr12:34314440-34314590	GM12873	blood:	n/a	n/a
23	CTCF	chr12:34347395-34347415	GM10248	blood:	n/a	n/a
24	CTCF	chr12:34347371-34347413	GM10266	blood:	n/a	n/a
25	CTCF	chr12:34286860-34287010	HEK293	kidney:	n/a	n/a
26	CTCF	chr12:34339353-34339949	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:34339580-34339730	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:34323960-34324110	GM12865	blood:	n/a	n/a
29	CTCF	chr12:34343536-34343539	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:34347332-34347338	GM20000	blood:	n/a	n/a
31	CTCF	chr12:34339540-34339690	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr12:34339524-34339682	HepG2	liver:	n/a	n/a
33	CTCF	chr12:34339640-34339790	HL-60	blood:	n/a	n/a
34	CTCF	chr12:34333015-34333147	GM10248	blood:	n/a	n/a
35	CTCF	chr12:34339420-34339570	A549	lung:	n/a	n/a
36	CTCF	chr12:34343340-34343490	GM12867	blood:	n/a	n/a
37	CTCF	chr12:34339371-34339819	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:34339559-34339718	K562	blood:	n/a	n/a
39	CTCF	chr12:34286920-34287070	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:34339580-34339730	RPTEC	kidney:	n/a	n/a
41	CTCF	chr12:34297847-34297875	GM10266	blood:	n/a	n/a
42	CTCF	chr12:34347390-34347443	GM13977	blood:	n/a	n/a
43	CTCF	chr12:34339616-34339624	GM10248	blood:	n/a	n/a
44	CTCF	chr12:34347339-34347442	GM20000	blood:	n/a	n/a
45	CTCF	chr12:34339529-34339777	T-47D	breast:	n/a	n/a
46	CTCF	chr12:34339421-34339794	K562	blood:	n/a	n/a
47	CTCF	chr12:34347414-34347417	GM10266	blood:	n/a	n/a
48	CTCF	chr12:34339580-34339730	GM12873	blood:	n/a	n/a
49	CTCF	chr12:34356760-34356910	GM12866	blood:	n/a	n/a
50	CTCF	chr12:34339560-34339710	NB4	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:34317569-34317619	GM19239	blood:	n/a
2	chr12:34317569-34317619	GM19239	blood:	n/a
3	chr12:34318704-34318754	NHDF-neo	bronchial:	n/a
4	chr12:34319822-34319872	Jurkat	blood:	n/a
5	chr12:34319822-34319872	ovcar-3	ovarian:	n/a
6	chr12:34319734-34319784	SAEC	small airway:	n/a
7	chr12:34319740-34319790	CMK	blood:	n/a
8	chr12:34318115-34318165	K562	blood:	n/a
9	chr12:34319822-34319872	HMEC	breast:	n/a
10	chr12:34317569-34317619	NH-A	brain:	n/a
11	chr12:34319734-34319784	HRPEpiC	eye:	n/a
12	chr12:34317569-34317619	AG04450	lung:	fetal
13	chr12:34318115-34318165	IMR90	lung:	fetal
14	chr12:34320121-34320171	HUVEC	blood vessel:	n/a
15	chr12:34319939-34319989	Hela-S3	cervix:	n/a
16	chr12:34319939-34319989	HRE	kidney:	n/a
17	chr12:34323943-34323993	NHDF-neo	bronchial:	n/a
18	chr12:34319822-34319872	NH-A	brain:	n/a
19	chr12:34317569-34317619	HCT-116	colon:	n/a
20	chr12:34319939-34319989	Jurkat	blood:	n/a
21	chr12:34319939-34319989	LNCaP	prostate:	n/a
22	chr12:34318704-34318754	GM12891	blood:	n/a
23	chr12:34318115-34318165	U87	brain:	n/a
24	chr12:34318704-34318754	BJ	skin:	n/a
25	chr12:34319939-34319989	PFSK-1	brain:	n/a
26	chr12:34319734-34319784	HCT-116	colon:	n/a
27	chr12:34323943-34323993	SAEC	small airway:	n/a
28	chr12:34317569-34317619	GM12892	blood:	n/a
29	chr12:34318527-34318577	K562	blood:	n/a
30	chr12:34319740-34319790	AG04449	skin:	fetal
31	chr12:34319740-34319790	HMEC	breast:	n/a
32	chr12:34318115-34318165	HNPCEpiC	eye:	n/a
33	chr12:34319822-34319872	MCF-7	breast:	n/a
34	chr12:34320121-34320171	BE2_C	brain:	n/a
35	chr12:34319939-34319989	NH-A	brain:	n/a
36	chr12:34319740-34319790	MCF-7	breast:	n/a
37	chr12:34323943-34323993	GM06990	blood:	n/a
38	chr12:34318115-34318165	GM06990	blood:	n/a
39	chr12:34318115-34318165	GM12878	blood:	n/a
40	chr12:34320121-34320171	GM06990	blood:	n/a
41	chr12:34317569-34317619	T-47D	breast:	n/a
42	chr12:34319740-34319790	GM12878	blood:	n/a
43	chr12:34317569-34317619	H1-hESC	embryonic stem cell:	embryo
44	chr12:34320121-34320171	HNPCEpiC	eye:	n/a
45	chr12:34319822-34319872	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:34317983-34318033	U87	brain:	n/a
47	chr12:34318527-34318577	AG04450	lung:	fetal
48	chr12:34317569-34317619	HUVEC	blood vessel:	n/a
49	chr12:34319939-34319989	HRCEpiC	kidney:	n/a
50	chr12:34319939-34319989	Caco-2	colon:	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
3	lnc-ALG10-2	chr12:34302774-34303105	ENSG00000255628
4	lnc-ALG10-2	chr12:34309116-34309255	ENSG00000255628

Variant related genes	Relation type
ENSG00000256986	TF binding region
ENSG00000272435	TF binding region
TUBB8P4	TF binding region
ENSG00000255628	TF binding region
ENSG00000256986	CpG island
ENSG00000272435	CpG island
TUBB8P4	CpG island
ENSG00000255628	CpG island

Extended variants
information (count: 1282 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548664561	chr12:34286234-34286235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35594070	chr12:34286323-34286324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80197280	chr12:34286329-34286330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537441436	chr12:34286331-34286332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191482973	chr12:34286374-34286375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182579053	chr12:34286410-34286411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187091025	chr12:34286427-34286428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538528134	chr12:34286428-34286429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192985782	chr12:34286462-34286463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558732863	chr12:34286477-34286478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57104223	chr12:34286478-34286479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569256425	chr12:34286506-34286507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113775503	chr12:34286527-34286528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79593301	chr12:34286528-34286529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185143371	chr12:34286532-34286533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534578986	chr12:34286576-34286577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151022112	chr12:34286636-34286637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563664659	chr12:34286651-34286652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577490584	chr12:34286667-34286668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553050850	chr12:34286669-34286670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373031891	chr12:34286691-34286692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190423352	chr12:34286697-34286698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60104166	chr12:34286714-34286715	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548747489	chr12:34286715-34286716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530964505	chr12:34286718-34286719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551015479	chr12:34286719-34286720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570721109	chr12:34286728-34286729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538934108	chr12:34286755-34286756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552140452	chr12:34286780-34286781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541921035	chr12:34286823-34286824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565911799	chr12:34286847-34286848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534498098	chr12:34286918-34286919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554277828	chr12:34286949-34286950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145819720	chr12:34295415-34295416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200493781	chr12:34295454-34295455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs114205047	chr12:34295485-34295486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs114681370	chr12:34295486-34295487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190085256	chr12:34295493-34295494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11830140	chr12:34295504-34295505	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565225576	chr12:34295530-34295531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs11832550	chr12:34295545-34295546	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75070268	chr12:34295568-34295569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs561292237	chr12:34295570-34295571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11830127	chr12:34295582-34295583	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs75816962	chr12:34295590-34295591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78415502	chr12:34295591-34295592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75490608	chr12:34295602-34295603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78121251	chr12:34295613-34295614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78967285	chr12:34295619-34295620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs76416220	chr12:34295627-34295628	ZNF genes & repeats	n/a	n/a	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	chr12:34286200-34287000	Enhancers	Placenta	Placenta
2	chr12:34295400-34296000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:34304000-34304400	Enhancers	Ovary	ovary
4	chr12:34304400-34308800	Weak transcription	Aorta	Aorta
5	chr12:34314000-34320600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:34319200-34320200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:34319800-34320000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:34328600-34328800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
9	chr12:34336800-34345400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr12:34338000-34340200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr12:34339200-34340000	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:34340000-34341600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:34341200-34341600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:34341400-34341800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr12:34341600-34342200	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:34342200-34342600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:34342400-34343000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:34342400-34343400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:34342600-34343800	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:34342600-34343800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:34342600-34344400	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:34343000-34343600	Enhancers	Primary B cells from cord blood	blood
23	chr12:34343400-34343600	Enhancers	Spleen	Spleen
24	chr12:34356800-34359400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:34357000-34358400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:34357000-34359200	Enhancers	Primary B cells from peripheral blood	blood

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