Variant report

Variant	nsv983496
Chromosome Location	chr12:26407082-26428038
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	ARID3A	chr12:26427535-26428034	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:26423977-26424451	K562	blood:	n/a	n/a
3	ARID3A	chr12:26427430-26428053	K562	blood:	n/a	n/a
4	ATF1	chr12:26423967-26424337	K562	blood:	n/a	n/a
5	ATF1	chr12:26427439-26428049	K562	blood:	n/a	n/a
6	ATF2	chr12:26427395-26428159	GM12878	blood:	n/a	n/a
7	ATF2	chr12:26427471-26428143	GM12878	blood:	n/a	n/a
8	ATF2	chr12:26424611-26425244	GM12878	blood:	n/a	n/a
9	ATF2	chr12:26424748-26425166	GM12878	blood:	n/a	n/a
10	ATF3	chr12:26427271-26428104	A549	lung:	n/a	n/a
11	ATF3	chr12:26427259-26428071	K562	blood:	n/a	n/a
12	ATF3	chr12:26427434-26428095	A549	lung:	n/a	n/a
13	ATF3	chr12:26427646-26427923	K562	blood:	n/a	n/a
14	BACH1	chr12:26427577-26427965	K562	blood:	n/a	chr12:26427795-26427809
15	BACH1	chr12:26427733-26427930	H1-hESC	embryonic stem cell:	n/a	chr12:26427795-26427809
16	BACH1	chr12:26424106-26424449	K562	blood:	n/a	n/a
17	BATF	chr12:26424733-26425116	GM12878	blood:	n/a	n/a
18	BATF	chr12:26427595-26428057	GM12878	blood:	n/a	chr12:26427794-26427805
19	BCL11A	chr12:26427557-26428067	GM12878	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807
20	BCL11A	chr12:26427521-26428132	GM12878	blood:	n/a	chr12:26427797-26427806 chr12:26428087-26428095 chr12:26427798-26427807
21	BCL3	chr12:26427369-26428216	A549	lung:	n/a	chr12:26427797-26427806 chr12:26428087-26428095 chr12:26427798-26427807
22	BCL3	chr12:26427194-26428266	A549	lung:	n/a	chr12:26427797-26427806 chr12:26428087-26428095 chr12:26427798-26427807
23	BCL3	chr12:26427578-26428151	GM12878	blood:	n/a	chr12:26427797-26427806 chr12:26428087-26428095 chr12:26427798-26427807
24	BCLAF1	chr12:26424588-26425081	GM12878	blood:	n/a	n/a
25	BCLAF1	chr12:26427509-26428087	GM12878	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807
26	BCLAF1	chr12:26427428-26428192	GM12878	blood:	n/a	chr12:26427797-26427806 chr12:26428087-26428095 chr12:26427798-26427807
27	BHLHE40	chr12:26423978-26425055	K562	blood:	n/a	n/a
28	BHLHE40	chr12:26427563-26428028	HepG2	liver:	n/a	n/a
29	BHLHE40	chr12:26424531-26425304	GM12878	blood:	n/a	n/a
30	BHLHE40	chr12:26426883-26428189	K562	blood:	n/a	n/a
31	BHLHE40	chr12:26427576-26428027	GM12878	blood:	n/a	n/a
32	BRCA1	chr12:26427421-26428037	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr12:26427600-26427800	GM12878	blood:	n/a	n/a
34	BRCA1	chr12:26427913-26427921	HepG2	liver:	n/a	n/a
35	CBX3	chr12:26427302-26428137	K562	blood:	n/a	n/a
36	CBX3	chr12:26427548-26428078	K562	blood:	n/a	n/a
37	CBX3	chr12:26409289-26409561	K562	blood:	n/a	n/a
38	CCNT2	chr12:26424031-26424283	K562	blood:	n/a	n/a
39	CCNT2	chr12:26426907-26428053	K562	blood:	n/a	n/a
40	CEBPB	chr12:26427502-26428183	GM12878	blood:	n/a	n/a
41	CEBPB	chr12:26427274-26428200	HCT-116	colon:	n/a	n/a
42	CEBPB	chr12:26423972-26425149	IMR90	lung:	n/a	n/a
43	CEBPB	chr12:26417204-26417499	HepG2	liver:	n/a	chr12:26417342-26417353 chr12:26417340-26417351
44	CEBPB	chr12:26427615-26428009	HepG2	liver:	n/a	n/a
45	CEBPB	chr12:26427393-26428189	HCT-116	colon:	n/a	n/a
46	CEBPB	chr12:26427367-26428159	A549	lung:	n/a	n/a
47	CEBPB	chr12:26411351-26411564	A549	lung:	n/a	n/a
48	CEBPB	chr12:26427291-26428145	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr12:26427172-26428316	A549	lung:	n/a	n/a
50	CEBPB	chr12:26417188-26417517	IMR90	lung:	n/a	chr12:26417342-26417353 chr12:26417340-26417351

No.	Distal block	Cell Line	Cell type
1	chr12:26427515..26429960-chr12:26436014..26437824,3	K562	blood:
2	chr12:26403059..26405586-chr12:26407529..26409531,2	K562	blood:
3	chr12:26397687..26399446-chr12:26426003..26429309,3	K562	blood:
4	chr12:26419878..26422720-chr12:26427079..26429529,2	K562	blood:
5	chr12:26275957..26278285-chr12:26426218..26428121,2	MCF-7	breast:
6	chr12:26266368..26268567-chr12:26426374..26428182,2	MCF-7	breast:
7	chr12:26419878..26422720-chr12:26427079..26429529,2	K562	blood:
8	chr12:26340370..26340991-chr12:26427254..26427993,2	MCF-7	breast:
9	chr12:26417164..26419767-chr12:26425510..26427946,2	K562	blood:
10	chr12:26272067..26272967-chr12:26427154..26428088,3	MCF-7	breast:
11	chr12:26424790..26426551-chr12:26525844..26528409,2	MCF-7	breast:
12	chr12:26427783..26429500-chr12:26440794..26443678,2	K562	blood:
13	chr12:26427380..26429500-chr12:26439632..26442928,3	K562	blood:
14	chr12:26417287..26420227-chr12:26423236..26425761,3	K562	blood:
15	chr12:26274883..26277038-chr12:26421953..26424842,3	MCF-7	breast:
16	chr12:26419878..26421463-chr12:26428029..26429779,2	K562	blood:
17	chr12:26427065..26429381-chr12:26431183..26432797,2	MCF-7	breast:
18	chr12:26265923..26267917-chr12:26426739..26429196,2	K562	blood:
19	chr12:26422309..26424340-chr12:26424935..26427133,2	MCF-7	breast:
20	chr12:26422309..26424340-chr12:26424935..26427133,2	MCF-7	breast:
21	chr12:26397649..26399446-chr12:26426022..26429309,3	K562	blood:
22	chr12:26417164..26419767-chr12:26425510..26427946,2	K562	blood:
23	chr12:26419878..26421463-chr12:26428029..26429779,2	K562	blood:
24	chr12:26399786..26401567-chr12:26405393..26407956,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITPR2-2	chr12:26424596-26424853	ENSG00000255750.1

Variant related genes	Relation type
ENSG00000255750	TF binding region
ENSG00000255750	chromatin interactions
ENSG00000212549	chromatin interactions
ENSG00000123096	chromatin interactions
ENSG00000123095	chromatin interactions

Extended variants
information (count: 811 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:811 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544119593	chr12:26407108-26407109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562467001	chr12:26407235-26407236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186156630	chr12:26407244-26407245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112861869	chr12:26407253-26407254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551405403	chr12:26407270-26407271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78370822	chr12:26407303-26407304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146999624	chr12:26407314-26407315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533043829	chr12:26407406-26407407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549554049	chr12:26407508-26407509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551435017	chr12:26407511-26407512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192064312	chr12:26407523-26407524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550480535	chr12:26407527-26407528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549332383	chr12:26407528-26407529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138207629	chr12:26407610-26407611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183378975	chr12:26407627-26407628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572409147	chr12:26407639-26407640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536346810	chr12:26407668-26407669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555112471	chr12:26407683-26407684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573515073	chr12:26407713-26407714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189182320	chr12:26407774-26407775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs118114077	chr12:26407813-26407814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577911636	chr12:26407875-26407876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544641538	chr12:26407896-26407897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560099858	chr12:26407949-26407950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375187896	chr12:26407965-26407966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12312234	chr12:26408004-26408005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs61914492	chr12:26408008-26408009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561001666	chr12:26408107-26408108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75178780	chr12:26408130-26408131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550442671	chr12:26408132-26408133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571836732	chr12:26408155-26408156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532849392	chr12:26408162-26408163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547427471	chr12:26408171-26408172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566084616	chr12:26408198-26408199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536309742	chr12:26408275-26408276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150567082	chr12:26408337-26408338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534347422	chr12:26408400-26408401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs537642204	chr12:26408401-26408402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs529138518	chr12:26408419-26408420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs3082372	chr12:26408420-26408421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs192594635	chr12:26408421-26408422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs397839159	chr12:26408432-26408433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76838363	chr12:26408433-26408434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556335249	chr12:26408437-26408438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs554411945	chr12:26408449-26408450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183269937	chr12:26408571-26408572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs545311294	chr12:26408601-26408602	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75595075	chr12:26408621-26408622	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572055287	chr12:26408648-26408649	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542673810	chr12:26408655-26408656	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26402800-26408400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:26408400-26409800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:26408600-26409200	Enhancers	Hela-S3	cervix
4	chr12:26408600-26409800	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr12:26408600-26410200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:26409000-26409400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:26410000-26416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:26413000-26413800	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:26413400-26413800	Enhancers	Primary B cells from cord blood	blood
10	chr12:26416800-26417000	Enhancers	Esophagus	oesophagus
11	chr12:26416800-26418400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:26416800-26419000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:26416800-26419000	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:26416800-26419200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:26416800-26420400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:26416800-26420400	Enhancers	HMEC	breast
17	chr12:26416800-26420400	Enhancers	NHEK	skin
18	chr12:26416800-26424200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:26417400-26418600	Enhancers	Fetal Intestine Small	intestine
20	chr12:26417600-26418600	Enhancers	Fetal Intestine Large	intestine
21	chr12:26417800-26418000	Enhancers	Esophagus	oesophagus
22	chr12:26417800-26419200	Enhancers	Stomach Mucosa	stomach
23	chr12:26418200-26418600	Enhancers	Small Intestine	intestine
24	chr12:26418400-26419600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:26418600-26421000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:26418600-26421000	Weak transcription	Fetal Intestine Small	intestine
27	chr12:26418600-26421400	Weak transcription	Small Intestine	intestine
28	chr12:26419000-26419600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:26419000-26421400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:26419200-26421400	Weak transcription	Stomach Mucosa	stomach
31	chr12:26419600-26420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:26419600-26420400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:26420400-26423800	Weak transcription	HMEC	breast
34	chr12:26420400-26423800	Weak transcription	NHEK	skin
35	chr12:26420400-26424000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:26420400-26424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:26420400-26424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:26421000-26421800	Enhancers	Adipose Nuclei	Adipose
39	chr12:26421000-26423600	Enhancers	Fetal Intestine Large	intestine
40	chr12:26421000-26429000	Enhancers	Fetal Intestine Small	intestine
41	chr12:26421400-26421800	Enhancers	Liver	Liver
42	chr12:26421400-26421800	Enhancers	Gastric	stomach
43	chr12:26421400-26421800	Enhancers	Psoas Muscle	Psoas
44	chr12:26421400-26422000	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:26421400-26422000	Enhancers	Pancreas	Pancrea
46	chr12:26421400-26422000	Enhancers	Small Intestine	intestine
47	chr12:26421400-26422000	Enhancers	HepG2	liver
48	chr12:26421400-26422800	Enhancers	Stomach Mucosa	stomach
49	chr12:26421600-26423200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:26421600-26423200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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