Variant report

Variant	nsv1043650
Chromosome Location	chr12:37857751-38169729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3099)
CpG islands
(count:1099)
Chromatin interactive
region (count:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3099 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:38024372-38024405	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:38032308-38032336	HepG2	liver:	n/a	n/a
3	ATF1	chr12:38016229-38016615	K562	blood:	n/a	n/a
4	ATF1	chr12:38092046-38092248	K562	blood:	n/a	n/a
5	ATF1	chr12:38050877-38051247	K562	blood:	n/a	n/a
6	ATF1	chr12:37991636-37991838	K562	blood:	n/a	n/a
7	ATF1	chr12:38024205-38024572	K562	blood:	n/a	n/a
8	ATF1	chr12:38066738-38067659	K562	blood:	n/a	n/a
9	ATF1	chr12:38006705-38007242	K562	blood:	n/a	n/a
10	ATF1	chr12:38017022-38017423	K562	blood:	n/a	n/a
11	ATF1	chr12:38008434-38009553	K562	blood:	n/a	n/a
12	ATF1	chr12:38045805-38046170	K562	blood:	n/a	n/a
13	ATF1	chr12:38028828-38029308	K562	blood:	n/a	n/a
14	ATF1	chr12:38046404-38046604	K562	blood:	n/a	n/a
15	ATF1	chr12:38011738-38011775	K562	blood:	n/a	n/a
16	ATF1	chr12:38044386-38044756	K562	blood:	n/a	n/a
17	ATF1	chr12:38110352-38110437	K562	blood:	n/a	n/a
18	ATF1	chr12:38013621-38013821	K562	blood:	n/a	n/a
19	ATF1	chr12:38027456-38027826	K562	blood:	n/a	n/a
20	ATF1	chr12:38034993-38035768	K562	blood:	n/a	n/a
21	ATF1	chr12:38053939-38054308	K562	blood:	n/a	n/a
22	BACH1	chr12:38036708-38037495	K562	blood:	n/a	n/a
23	BACH1	chr12:38116407-38117137	K562	blood:	n/a	n/a
24	BACH1	chr12:38087472-38087697	K562	blood:	n/a	n/a
25	BACH1	chr12:38143854-38144228	K562	blood:	n/a	n/a
26	BACH1	chr12:38103735-38103763	K562	blood:	n/a	n/a
27	BACH1	chr12:38082364-38082737	K562	blood:	n/a	n/a
28	BACH1	chr12:38117525-38117900	K562	blood:	n/a	n/a
29	BACH1	chr12:38021138-38021516	K562	blood:	n/a	n/a
30	BACH1	chr12:38008196-38008825	K562	blood:	n/a	n/a
31	BACH1	chr12:38089714-38089893	K562	blood:	n/a	n/a
32	BACH1	chr12:38108072-38108654	K562	blood:	n/a	n/a
33	BATF	chr12:38096145-38096507	GM12878	blood:	n/a	n/a
34	BATF	chr12:38027275-38027761	GM12878	blood:	n/a	n/a
35	BATF	chr12:38108472-38108953	GM12878	blood:	n/a	n/a
36	BATF	chr12:38066806-38067096	GM12878	blood:	n/a	n/a
37	BATF	chr12:37997490-37997715	GM12878	blood:	n/a	n/a
38	BATF	chr12:38037126-38037384	GM12878	blood:	n/a	n/a
39	BATF	chr12:38028808-38029282	GM12878	blood:	n/a	n/a
40	BATF	chr12:38014308-38014673	GM12878	blood:	n/a	n/a
41	BATF	chr12:38017075-38017391	GM12878	blood:	n/a	n/a
42	BATF	chr12:38090908-38091221	GM12878	blood:	n/a	n/a
43	BATF	chr12:38105958-38106238	GM12878	blood:	n/a	n/a
44	BATF	chr12:38096575-38096869	GM12878	blood:	n/a	n/a
45	BATF	chr12:37998721-37998953	GM12878	blood:	n/a	n/a
46	BATF	chr12:38168677-38168845	GM12878	blood:	n/a	n/a
47	BATF	chr12:38140087-38140251	GM12878	blood:	n/a	n/a
48	BATF	chr12:38045779-38046150	GM12878	blood:	n/a	n/a
49	BATF	chr12:38000500-38000798	GM12878	blood:	n/a	n/a
50	BATF	chr12:38168675-38168891	GM12878	blood:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:38117724-38117774	HL-60	blood:	n/a
2	chr12:38117724-38117774	HL-60	blood:	n/a
3	chr12:37937799-37937849	HMEC	breast:	n/a
4	chr12:37942439-37942489	HRCEpiC	kidney:	n/a
5	chr12:37960372-37960422	Jurkat	blood:	n/a
6	chr12:37937608-37937658	NHBE	bronchial:	n/a
7	chr12:37941348-37941398	K562	blood:	n/a
8	chr12:37935538-37935588	GM19239	blood:	n/a
9	chr12:37941570-37941620	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:37935538-37935588	Hepatocyte	liver:	n/a
11	chr12:37940985-37941035	SK-N-SH	brain:	n/a
12	chr12:37941348-37941398	HAEpiC	amniotic membrane:	n/a
13	chr12:37937608-37937658	U87	brain:	n/a
14	chr12:37940985-37941035	AoSMC	blood vessel:	n/a
15	chr12:37937769-37937819	HEEpiC	esophagus:	n/a
16	chr12:37960372-37960422	HL-60	blood:	n/a
17	chr12:37942267-37942317	ProgFib	skin:	n/a
18	chr12:37936314-37936364	NHDF-neo	bronchial:	n/a
19	chr12:37960160-37960210	RPTEC	kidney:	n/a
20	chr12:37936063-37936113	AG10803	skin:	n/a
21	chr12:37936063-37936113	SAEC	small airway:	n/a
22	chr12:37942400-37942450	AG09319	gingival:	n/a
23	chr12:37937769-37937819	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:38117724-38117774	PrEC	prostate:	n/a
25	chr12:37960372-37960422	BE2_C	brain:	n/a
26	chr12:37942400-37942450	AG09309	skin:	n/a
27	chr12:37942267-37942317	Caco-2	colon:	n/a
28	chr12:37935346-37935396	MCF10A-Er-Src	breast:	n/a
29	chr12:37940985-37941035	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:37935538-37935588	GM06990	blood:	n/a
31	chr12:37941348-37941398	RPTEC	kidney:	n/a
32	chr12:37937799-37937849	ProgFib	skin:	n/a
33	chr12:37941570-37941620	MCF10A-Er-Src	breast:	n/a
34	chr12:37937769-37937819	ECC-1	luminal epithelium:	n/a
35	chr12:37941570-37941620	H1-hESC	embryonic stem cell:	embryo
36	chr12:37937799-37937849	T-47D	breast:	n/a
37	chr12:37937799-37937849	AG10803	skin:	n/a
38	chr12:37936063-37936113	Jurkat	blood:	n/a
39	chr12:37935346-37935396	PANC-1	pancreas:	n/a
40	chr12:37941570-37941620	ECC-1	luminal epithelium:	n/a
41	chr12:37960372-37960422	HUVEC	blood vessel:	n/a
42	chr12:37937799-37937849	IMR90	lung:	fetal
43	chr12:37940985-37941035	HMEC	breast:	n/a
44	chr12:37939694-37939744	H1-hESC	embryonic stem cell:	embryo
45	chr12:37937608-37937658	LNCaP	prostate:	n/a
46	chr12:37941348-37941398	HEK293	kidney:	embryo
47	chr12:37939694-37939744	HRPEpiC	eye:	n/a
48	chr12:37935346-37935396	HCM	heart:	n/a
49	chr12:37936314-37936364	SAEC	small airway:	n/a
50	chr12:37935538-37935588	SAEC	small airway:	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	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
3	chr12:38038013..38039001-chr3:156392284..156392894,2	MCF-7	breast:
4	chr12:38092578..38093097-chr2:92306640..92307159,2	MCF-7	breast:
5	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
6	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
7	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
8	chr12:38062177..38062716-chr12:38709963..38710509,2	MCF-7	breast:
9	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000257933	TF binding region
ENSG00000258368	TF binding region
ENSG00000257794	TF binding region
ENSG00000257899	TF binding region
ENSG00000257933	CpG island
ENSG00000258368	CpG island
ENSG00000257794	CpG island
ENSG00000257899	CpG island
ENSG00000175548	chromatin interactions
ENSG00000163659	chromatin interactions

Extended variants
information (count: 21083 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:21083 , 50 per page) page: 1 2 3 4 5 6 7 ... 422

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532965872	chr12:37879207-37879208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4002716	chr12:37879229-37879230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61921987	chr12:37879233-37879234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540124761	chr12:37879238-37879239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143577881	chr12:37879245-37879246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202198290	chr12:37879249-37879250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150711778	chr12:37879258-37879259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560407947	chr12:37879267-37879268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4002715	chr12:37879329-37879330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529035709	chr12:37879337-37879338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4002745	chr12:37879353-37879354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61921988	chr12:37879366-37879367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76877803	chr12:37879382-37879383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549199097	chr12:37879386-37879387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568788256	chr12:37879398-37879399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4002744	chr12:37879409-37879410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4002743	chr12:37879416-37879417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531001566	chr12:37879433-37879434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551115456	chr12:37879434-37879435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570720892	chr12:37879476-37879477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539829092	chr12:37879479-37879480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200137328	chr12:37879495-37879496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546929094	chr12:37879499-37879500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4123920	chr12:37879504-37879505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201409709	chr12:37879525-37879526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200609204	chr12:37879526-37879527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201342334	chr12:37879548-37879549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77772504	chr12:37879564-37879565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374012560	chr12:37879569-37879570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535786791	chr12:37879598-37879599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555526798	chr12:37879600-37879601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113587317	chr12:37879601-37879602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371030893	chr12:37879602-37879603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111726696	chr12:37879627-37879628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4002742	chr12:37879638-37879639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4002741	chr12:37879643-37879644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4002740	chr12:37879666-37879667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199764301	chr12:37879687-37879688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200561165	chr12:37879704-37879705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4002739	chr12:37879719-37879720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537521213	chr12:37879748-37879749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11561452	chr12:37879750-37879751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201966701	chr12:37879757-37879758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187634691	chr12:37879778-37879779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4002738	chr12:37879785-37879786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71447687	chr12:37879822-37879823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550360044	chr12:37879823-37879824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567265296	chr12:37879824-37879825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192824689	chr12:37879851-37879852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199676567	chr12:37879855-37879856	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Osteosarcoma	21215367	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:892 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37879200-37880200	Enhancers	Dnd41	blood
2	chr12:37891400-37892600	Enhancers	Dnd41	blood
3	chr12:37895600-37896000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:37919800-37920600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:37920600-37921200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:37921200-37921400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:37921400-37922400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:37922400-37922800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:37934000-37935000	ZNF genes & repeats	Spleen	Spleen
10	chr12:37934000-37942000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:37934000-37942400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:37936200-37942000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:37941200-37942000	Active TSS	K562	blood
14	chr12:37941400-37941800	ZNF genes & repeats	Placenta	Placenta
15	chr12:37960200-37960600	Enhancers	Spleen	Spleen
16	chr12:37960600-37961200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:37982200-37982600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:37989600-37991400	Weak transcription	HUVEC	blood vessel
19	chr12:37989800-38041200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr12:37990000-37990400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:37990000-37990400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
22	chr12:37990000-37990400	ZNF genes & repeats	Psoas Muscle	Psoas
23	chr12:37990000-37993400	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr12:37990000-38040800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr12:37990400-37993600	Weak transcription	Psoas Muscle	Psoas
26	chr12:37990400-38014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:37991400-37991600	ZNF genes & repeats	HUVEC	blood vessel
28	chr12:37991400-37992200	ZNF genes & repeats	Fetal Heart	heart
29	chr12:37991400-37993200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr12:37991600-37992200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:37991600-37994000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr12:37991600-37994400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr12:37991800-37992200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr12:37991800-37992200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr12:37991800-37998200	Weak transcription	K562	blood
36	chr12:37993600-37994400	Active TSS	Psoas Muscle	Psoas
37	chr12:37995200-38003400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr12:37997200-38000200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:37997400-37997800	ZNF genes & repeats	Fetal Brain Male	brain
40	chr12:37997400-37998400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:37997800-37998800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr12:37997800-38000200	ZNF genes & repeats	HepG2	liver
43	chr12:37998000-37998400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr12:37998000-37998600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
45	chr12:37998000-38002400	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr12:37998000-38002800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr12:37998200-37998400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:37998200-37998400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:37998200-37998400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:37998200-37998400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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