Variant report

Variant	nsv1045715
Chromosome Location	chr12:37959632-38219777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3241)
CpG islands
(count:183)
Chromatin interactive
region (count:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3241 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:38032308-38032336	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:38024372-38024405	HepG2	liver:	n/a	n/a
3	ATF1	chr12:38050877-38051247	K562	blood:	n/a	n/a
4	ATF1	chr12:38066738-38067659	K562	blood:	n/a	n/a
5	ATF1	chr12:38011738-38011775	K562	blood:	n/a	n/a
6	ATF1	chr12:38013621-38013821	K562	blood:	n/a	n/a
7	ATF1	chr12:38034993-38035768	K562	blood:	n/a	n/a
8	ATF1	chr12:38045805-38046170	K562	blood:	n/a	n/a
9	ATF1	chr12:38110352-38110437	K562	blood:	n/a	n/a
10	ATF1	chr12:38006705-38007242	K562	blood:	n/a	n/a
11	ATF1	chr12:37991636-37991838	K562	blood:	n/a	n/a
12	ATF1	chr12:38092046-38092248	K562	blood:	n/a	n/a
13	ATF1	chr12:38017022-38017423	K562	blood:	n/a	n/a
14	ATF1	chr12:38053939-38054308	K562	blood:	n/a	n/a
15	ATF1	chr12:38046404-38046604	K562	blood:	n/a	n/a
16	ATF1	chr12:38024205-38024572	K562	blood:	n/a	n/a
17	ATF1	chr12:38027456-38027826	K562	blood:	n/a	n/a
18	ATF1	chr12:38008434-38009553	K562	blood:	n/a	n/a
19	ATF1	chr12:38044386-38044756	K562	blood:	n/a	n/a
20	ATF1	chr12:38016229-38016615	K562	blood:	n/a	n/a
21	ATF1	chr12:38028828-38029308	K562	blood:	n/a	n/a
22	BACH1	chr12:38116407-38117137	K562	blood:	n/a	n/a
23	BACH1	chr12:38082364-38082737	K562	blood:	n/a	n/a
24	BACH1	chr12:38103735-38103763	K562	blood:	n/a	n/a
25	BACH1	chr12:38117525-38117900	K562	blood:	n/a	n/a
26	BACH1	chr12:38108072-38108654	K562	blood:	n/a	n/a
27	BACH1	chr12:38089714-38089893	K562	blood:	n/a	n/a
28	BACH1	chr12:38143854-38144228	K562	blood:	n/a	n/a
29	BACH1	chr12:38036708-38037495	K562	blood:	n/a	n/a
30	BACH1	chr12:38087472-38087697	K562	blood:	n/a	n/a
31	BACH1	chr12:38021138-38021516	K562	blood:	n/a	n/a
32	BACH1	chr12:38008196-38008825	K562	blood:	n/a	n/a
33	BATF	chr12:38045779-38046150	GM12878	blood:	n/a	n/a
34	BATF	chr12:38168677-38168845	GM12878	blood:	n/a	n/a
35	BATF	chr12:37998721-37998953	GM12878	blood:	n/a	n/a
36	BATF	chr12:38035005-38035697	GM12878	blood:	n/a	n/a
37	BATF	chr12:38037919-38038254	GM12878	blood:	n/a	n/a
38	BATF	chr12:38140087-38140251	GM12878	blood:	n/a	n/a
39	BATF	chr12:38109205-38109363	GM12878	blood:	n/a	n/a
40	BATF	chr12:38045464-38045671	GM12878	blood:	n/a	n/a
41	BATF	chr12:37997491-37997711	GM12878	blood:	n/a	n/a
42	BATF	chr12:38178560-38178705	GM12878	blood:	n/a	n/a
43	BATF	chr12:38195163-38195327	GM12878	blood:	n/a	n/a
44	BATF	chr12:38034919-38035701	GM12878	blood:	n/a	n/a
45	BATF	chr12:38098846-38099031	GM12878	blood:	n/a	n/a
46	BATF	chr12:38014314-38014655	GM12878	blood:	n/a	n/a
47	BATF	chr12:38108472-38108953	GM12878	blood:	n/a	n/a
48	BATF	chr12:38093899-38094130	GM12878	blood:	n/a	n/a
49	BATF	chr12:38105958-38106238	GM12878	blood:	n/a	n/a
50	BATF	chr12:38105960-38106220	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:37960160-37960210	BE2_C	brain:	n/a
2	chr12:38117724-38117774	HEEpiC	esophagus:	n/a
3	chr12:38117724-38117774	Hepatocyte	liver:	n/a
4	chr12:38117724-38117774	PFSK-1	brain:	n/a
5	chr12:37960160-37960210	IMR90	lung:	fetal
6	chr12:37960372-37960422	HIPEpiC	eye:	n/a
7	chr12:37960160-37960210	AG10803	skin:	n/a
8	chr12:37960160-37960210	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:37960372-37960422	SAEC	small airway:	n/a
10	chr12:37960372-37960422	ProgFib	skin:	n/a
11	chr12:38117724-38117774	SK-N-SH_RA	brain:	n/a
12	chr12:38117724-38117774	Caco-2	colon:	n/a
13	chr12:37960372-37960422	Caco-2	colon:	n/a
14	chr12:38117724-38117774	BJ	skin:	n/a
15	chr12:38117724-38117774	GM12891	blood:	n/a
16	chr12:38117724-38117774	U87	brain:	n/a
17	chr12:37960372-37960422	AG04449	skin:	fetal
18	chr12:37960160-37960210	Jurkat	blood:	n/a
19	chr12:37960372-37960422	NHDF-neo	bronchial:	n/a
20	chr12:38117724-38117774	HIPEpiC	eye:	n/a
21	chr12:38117724-38117774	SAEC	small airway:	n/a
22	chr12:37960160-37960210	AG04449	skin:	fetal
23	chr12:37960160-37960210	SAEC	small airway:	n/a
24	chr12:38117724-38117774	HUVEC	blood vessel:	n/a
25	chr12:37960372-37960422	HRCEpiC	kidney:	n/a
26	chr12:38117724-38117774	HRCEpiC	kidney:	n/a
27	chr12:38117724-38117774	K562	blood:	n/a
28	chr12:37960372-37960422	NT2-D1	testis:	n/a
29	chr12:37960160-37960210	Caco-2	colon:	n/a
30	chr12:37960372-37960422	NHBE	bronchial:	n/a
31	chr12:37960160-37960210	PrEC	prostate:	n/a
32	chr12:37960160-37960210	ECC-1	luminal epithelium:	n/a
33	chr12:37960372-37960422	GM19239	blood:	n/a
34	chr12:37960160-37960210	H1-hESC	embryonic stem cell:	embryo
35	chr12:37960160-37960210	NB4	blood:	n/a
36	chr12:37960160-37960210	GM12891	blood:	n/a
37	chr12:38117724-38117774	H1-hESC	embryonic stem cell:	embryo
38	chr12:37960160-37960210	GM06990	blood:	n/a
39	chr12:37960160-37960210	HCT-116	colon:	n/a
40	chr12:37960372-37960422	HUVEC	blood vessel:	n/a
41	chr12:37960160-37960210	A549	lung:	n/a
42	chr12:37960372-37960422	IMR90	lung:	fetal
43	chr12:38117724-38117774	MCF10A-Er-Src	breast:	n/a
44	chr12:37960160-37960210	HEK293	kidney:	embryo
45	chr12:38117724-38117774	GM12878	blood:	n/a
46	chr12:37960372-37960422	Jurkat	blood:	n/a
47	chr12:38117724-38117774	T-47D	breast:	n/a
48	chr12:37960160-37960210	MCF-7	breast:	n/a
49	chr12:37960372-37960422	HEK293	kidney:	embryo
50	chr12:37960160-37960210	AoSMC	blood vessel:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:38143553..38144054-chr18:18519761..18520264,2	MCF-7	breast:
2	chr12:38062177..38062716-chr12:38709963..38710509,2	MCF-7	breast:
3	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
4	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
5	chr12:38038013..38039001-chr3:156392284..156392894,2	MCF-7	breast:
6	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
7	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
8	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
9	chr12:38092578..38093097-chr2:92306640..92307159,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10B-10	chr12:37970091-37970186	NONHSAT027668
2	lnc-ALG10B-10	chr12:37970091-37970259	NONHSAT027669
3	lnc-ALG10B-10	chr12:37969251-37969555	NONHSAT027668
4	lnc-ALG10B-10	chr12:37969385-37969515	NONHSAT027669

No data

Variant related genes	Relation type
ENSG00000258368	TF binding region
ENSG00000258368	CpG island
ENSG00000163659	chromatin interactions
ENSG00000175548	chromatin interactions

Extended variants
information (count: 23259 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:23259 , 50 per page) page: 1 2 3 4 5 6 7 ... 466

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117689188	chr12:37960202-37960203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528871288	chr12:37960235-37960236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185811109	chr12:37960240-37960241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562724562	chr12:37960255-37960256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531646135	chr12:37960289-37960290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12317934	chr12:37960291-37960292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571485716	chr12:37960319-37960320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149617467	chr12:37960323-37960324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546761237	chr12:37960328-37960329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567003109	chr12:37960338-37960339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191999686	chr12:37960339-37960340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555354063	chr12:37960344-37960345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575501617	chr12:37960345-37960346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538169263	chr12:37960367-37960368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548690264	chr12:37960369-37960370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558058449	chr12:37960375-37960376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144269518	chr12:37960376-37960377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540863804	chr12:37960379-37960380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370728774	chr12:37960386-37960387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148750262	chr12:37960410-37960411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376162248	chr12:37960416-37960417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112757624	chr12:37960417-37960418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182103791	chr12:37960442-37960443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570135088	chr12:37960448-37960449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531605535	chr12:37960452-37960453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142367564	chr12:37960467-37960468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538053460	chr12:37960469-37960470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565216618	chr12:37960486-37960487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371233520	chr12:37960498-37960499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187651313	chr12:37960499-37960500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377326045	chr12:37960500-37960501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71447695	chr12:37960502-37960503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566814718	chr12:37960521-37960522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71065466	chr12:37960522-37960523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549961488	chr12:37960541-37960542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192004763	chr12:37960544-37960545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548940374	chr12:37960575-37960576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568890499	chr12:37960623-37960624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182110302	chr12:37960626-37960627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558021619	chr12:37960634-37960635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs578228088	chr12:37960671-37960672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534084569	chr12:37960677-37960678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554353963	chr12:37960687-37960688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538967220	chr12:37960709-37960710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542763564	chr12:37960808-37960809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562596320	chr12:37960821-37960822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576089250	chr12:37960860-37960861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545060389	chr12:37960861-37960862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186839976	chr12:37960900-37960901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553771162	chr12:37960946-37960947	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20858243	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD

Chromatin state (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37960200-37960600	Enhancers	Spleen	Spleen
2	chr12:37960600-37961200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:37982200-37982600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:37989600-37991400	Weak transcription	HUVEC	blood vessel
5	chr12:37989800-38041200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr12:37990000-37990400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:37990000-37990400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
8	chr12:37990000-37990400	ZNF genes & repeats	Psoas Muscle	Psoas
9	chr12:37990000-37993400	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr12:37990000-38040800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr12:37990400-37993600	Weak transcription	Psoas Muscle	Psoas
12	chr12:37990400-38014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:37991400-37991600	ZNF genes & repeats	HUVEC	blood vessel
14	chr12:37991400-37992200	ZNF genes & repeats	Fetal Heart	heart
15	chr12:37991400-37993200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr12:37991600-37992200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:37991600-37994000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr12:37991600-37994400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr12:37991800-37992200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
20	chr12:37991800-37992200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
21	chr12:37991800-37998200	Weak transcription	K562	blood
22	chr12:37993600-37994400	Active TSS	Psoas Muscle	Psoas
23	chr12:37995200-38003400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr12:37997200-38000200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:37997400-37997800	ZNF genes & repeats	Fetal Brain Male	brain
26	chr12:37997400-37998400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:37997800-37998800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr12:37997800-38000200	ZNF genes & repeats	HepG2	liver
29	chr12:37998000-37998400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr12:37998000-37998600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr12:37998000-38002400	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr12:37998000-38002800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr12:37998200-37998400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:37998200-37998400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:37998200-37998400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:37998200-37998400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
38	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
40	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:37998200-37998400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
42	chr12:37998200-37998400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:37998200-37998400	Enhancers	Aorta	Aorta
44	chr12:37998200-37998400	ZNF genes & repeats	Liver	Liver
45	chr12:37998200-37998400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
46	chr12:37998200-37998400	ZNF genes & repeats	Brain Hippocampus Middle	brain
47	chr12:37998200-37998400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
48	chr12:37998200-37998400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:37998200-37998400	ZNF genes & repeats	Brain Substantia Nigra	brain
50	chr12:37998200-37998400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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