Variant report

Variant	nsv600
Chromosome Location	chr12:8631646-8645560
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	CHD2	chr12:8637815-8638033	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:8641063-8641127	GM13977	blood:	n/a	n/a
3	CTCF	chr12:8635079-8635145	GM20000	blood:	n/a	n/a
4	CTCF	chr12:8631892-8631907	GM10266	blood:	n/a	n/a
5	E2F4	chr12:8636991-8637220	MCF10A-Er-Src	breast:	n/a	n/a
6	FAM48A	chr12:8641700-8641854	GM12878	blood:	n/a	n/a
7	FAM48A	chr12:8638470-8638665	GM12878	blood:	n/a	n/a
8	GATA2	chr12:8638367-8638640	SH-SY5Y	brain:	n/a	n/a
9	MAFK	chr12:8642225-8642402	HepG2	liver:	n/a	n/a
10	MAFK	chr12:8642239-8642367	HepG2	liver:	n/a	n/a
11	MAFK	chr12:8645243-8645310	HepG2	liver:	n/a	n/a
12	MAX	chr12:8635767-8635967	NB4	blood:	n/a	chr12:8635903-8635913
13	MYC	chr12:8635670-8635733	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr12:8635615-8635669	H1-hESC	embryonic stem cell:	n/a	n/a
15	NFE2	chr12:8638463-8638489	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:8635631-8635705	A549	lung:	n/a	n/a
17	POLR2A	chr12:8635443-8635629	A549	lung:	n/a	n/a
18	POLR2A	chr12:8645519-8646204	HL-60	blood:	n/a	n/a
19	POLR2A	chr12:8635858-8636165	A549	lung:	n/a	n/a
20	SETDB1	chr12:8640560-8640861	U2OS	brain:	n/a	n/a
21	SP1	chr12:8633502-8633746	HepG2	liver:	n/a	n/a
22	SPI1	chr12:8645455-8646088	GM12878	blood:	n/a	chr12:8645868-8645877 chr12:8645869-8645876 chr12:8645974-8645981
23	SRF	chr12:8635780-8635990	GM12878	blood:	n/a	chr12:8635865-8635878 chr12:8635863-8635880 chr12:8635867-8635876 chr12:8635866-8635877 chr12:8635864-8635879 chr12:8635867-8635878 chr12:8635861-8635879 chr12:8635863-8635881 chr12:8635867-8635881 chr12:8635860-8635877 chr12:8635866-8635883 chr12:8635862-8635880 chr12:8635865-8635876
24	SRF	chr12:8635609-8636039	ECC-1	luminal epithelium:	n/a	chr12:8635865-8635878 chr12:8635863-8635880 chr12:8635867-8635876 chr12:8635866-8635877 chr12:8635864-8635879 chr12:8635867-8635878 chr12:8635861-8635879 chr12:8635863-8635881 chr12:8635867-8635881 chr12:8635860-8635877 chr12:8635866-8635883 chr12:8635862-8635880 chr12:8635865-8635876
25	SRF	chr12:8635740-8636004	GM12878	blood:	n/a	chr12:8635865-8635878 chr12:8635863-8635880 chr12:8635867-8635876 chr12:8635866-8635877 chr12:8635864-8635879 chr12:8635867-8635878 chr12:8635861-8635879 chr12:8635863-8635881 chr12:8635867-8635881 chr12:8635860-8635877 chr12:8635866-8635883 chr12:8635862-8635880 chr12:8635865-8635876
26	SRF	chr12:8635694-8636154	ECC-1	luminal epithelium:	n/a	chr12:8635865-8635878 chr12:8635863-8635880 chr12:8635867-8635876 chr12:8635866-8635877 chr12:8635864-8635879 chr12:8635867-8635878 chr12:8635861-8635879 chr12:8635863-8635881 chr12:8635867-8635881 chr12:8635860-8635877 chr12:8635866-8635883 chr12:8635862-8635880 chr12:8635865-8635876
27	SRF	chr12:8635712-8635998	H1-hESC	embryonic stem cell:	n/a	chr12:8635865-8635878 chr12:8635863-8635880 chr12:8635867-8635876 chr12:8635866-8635877 chr12:8635864-8635879 chr12:8635867-8635878 chr12:8635861-8635879 chr12:8635863-8635881 chr12:8635867-8635881 chr12:8635860-8635877 chr12:8635866-8635883 chr12:8635862-8635880 chr12:8635865-8635876
28	SRF	chr12:8635739-8635975	HepG2	liver:	n/a	chr12:8635865-8635878 chr12:8635863-8635880 chr12:8635867-8635876 chr12:8635866-8635877 chr12:8635864-8635879 chr12:8635867-8635878 chr12:8635861-8635879 chr12:8635863-8635881 chr12:8635867-8635881 chr12:8635860-8635877 chr12:8635866-8635883 chr12:8635862-8635880 chr12:8635865-8635876
29	SRF	chr12:8635744-8636002	GM12878	blood:	n/a	chr12:8635865-8635878 chr12:8635863-8635880 chr12:8635867-8635876 chr12:8635866-8635877 chr12:8635864-8635879 chr12:8635867-8635878 chr12:8635861-8635879 chr12:8635863-8635881 chr12:8635867-8635881 chr12:8635860-8635877 chr12:8635866-8635883 chr12:8635862-8635880 chr12:8635865-8635876

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8637618-8637668	HUVEC	blood vessel:	n/a
2	chr12:8637618-8637668	BE2_C	brain:	n/a
3	chr12:8637618-8637668	HIPEpiC	eye:	n/a
4	chr12:8637618-8637668	AG09319	gingival:	n/a
5	chr12:8637618-8637668	AG10803	skin:	n/a
6	chr12:8637618-8637668	NT2-D1	testis:	n/a
7	chr12:8637618-8637668	HNPCEpiC	eye:	n/a
8	chr12:8637618-8637668	A549	lung:	n/a
9	chr12:8637618-8637668	SK-N-MC	brain:	n/a
10	chr12:8637618-8637668	HEK293	kidney:	embryo
11	chr12:8637618-8637668	AG04450	lung:	fetal
12	chr12:8637618-8637668	PFSK-1	brain:	n/a
13	chr12:8637618-8637668	HRPEpiC	eye:	n/a
14	chr12:8637618-8637668	Hepatocyte	liver:	n/a
15	chr12:8637618-8637668	AoSMC	blood vessel:	n/a
16	chr12:8637618-8637668	CMK	blood:	n/a
17	chr12:8637618-8637668	RPTEC	kidney:	n/a
18	chr12:8637618-8637668	AG04449	skin:	fetal
19	chr12:8637618-8637668	GM06990	blood:	n/a
20	chr12:8637618-8637668	HCM	heart:	n/a
21	chr12:8637618-8637668	HL-60	blood:	n/a
22	chr12:8637618-8637668	U87	brain:	n/a
23	chr12:8637618-8637668	MCF10A-Er-Src	breast:	n/a
24	chr12:8637618-8637668	Hela-S3	cervix:	n/a
25	chr12:8637618-8637668	HEEpiC	esophagus:	n/a
26	chr12:8637618-8637668	PANC-1	pancreas:	n/a
27	chr12:8637618-8637668	GM12892	blood:	n/a
28	chr12:8637618-8637668	K562	blood:	n/a
29	chr12:8637618-8637668	HCPEpiC	choroid plexus:	n/a
30	chr12:8637618-8637668	NB4	blood:	n/a
31	chr12:8637618-8637668	SKMC	muscle:	n/a
32	chr12:8637618-8637668	ECC-1	luminal epithelium:	n/a
33	chr12:8637618-8637668	GM19239	blood:	n/a
34	chr12:8637618-8637668	SK-N-SH_RA	brain:	n/a
35	chr12:8637618-8637668	NH-A	brain:	n/a
36	chr12:8637618-8637668	H1-hESC	embryonic stem cell:	embryo
37	chr12:8637618-8637668	MCF-7	breast:	n/a
38	chr12:8637618-8637668	HCT-116	colon:	n/a
39	chr12:8637618-8637668	HRE	kidney:	n/a
40	chr12:8637618-8637668	SK-N-SH	brain:	n/a
41	chr12:8637618-8637668	ProgFib	skin:	n/a
42	chr12:8637618-8637668	T-47D	breast:	n/a
43	chr12:8637618-8637668	HAEpiC	amniotic membrane:	n/a
44	chr12:8637618-8637668	NHBE	bronchial:	n/a
45	chr12:8637618-8637668	LNCaP	prostate:	n/a
46	chr12:8637618-8637668	BJ	skin:	n/a
47	chr12:8637618-8637668	HCF	heart:	n/a
48	chr12:8637618-8637668	AG09309	skin:	n/a
49	chr12:8637618-8637668	IMR90	lung:	fetal
50	chr12:8637618-8637668	GM12878	blood:	n/a

Variant related genes	Relation type
RNU6-275P	TF binding region
RNU6-275P	CpG island

Extended variants
information (count: 325 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191001952	chr12:8631647-8631648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578082174	chr12:8631660-8631661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545498838	chr12:8631714-8631715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182834902	chr12:8631720-8631721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562291768	chr12:8631748-8631749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147046857	chr12:8631763-8631764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs14796	chr12:8631800-8631801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370375241	chr12:8631855-8631856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188237839	chr12:8631893-8631894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34617936	chr12:8631953-8631954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375366056	chr12:8632024-8632025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376064029	chr12:8632086-8632087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73045750	chr12:8632099-8632100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11548733	chr12:8632118-8632119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201890679	chr12:8632147-8632148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398076404	chr12:8632152-8632153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398018349	chr12:8632153-8632154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11045643	chr12:8632256-8632257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs79916895	chr12:8632262-8632263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527603484	chr12:8632331-8632332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373915698	chr12:8632370-8632371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193176056	chr12:8632371-8632372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182783838	chr12:8632428-8632429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188296901	chr12:8632450-8632451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117727827	chr12:8632526-8632527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372460694	chr12:8632641-8632642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551198116	chr12:8632697-8632698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149225236	chr12:8632760-8632761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143377984	chr12:8632771-8632772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7135539	chr12:8632833-8632834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570634585	chr12:8632940-8632941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539594103	chr12:8633098-8633099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549997868	chr12:8633141-8633142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570198684	chr12:8633245-8633246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535932925	chr12:8633263-8633264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183957218	chr12:8633364-8633365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376731123	chr12:8633377-8633378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555755399	chr12:8633400-8633401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199596614	chr12:8633412-8633413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567106090	chr12:8633413-8633414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370677998	chr12:8633478-8633479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111964945	chr12:8633480-8633481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111722577	chr12:8633494-8633495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7960144	chr12:8633544-8633545	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs138626885	chr12:8633661-8633662	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11045652	chr12:8633720-8633721	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs553759956	chr12:8633737-8633738	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs189372552	chr12:8634035-8634036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146193537	chr12:8634185-8634186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367629294	chr12:8634219-8634220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8628000-8638200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:8628400-8637400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:8634400-8636200	Enhancers	Fetal Thymus	thymus
4	chr12:8634400-8636600	Enhancers	Primary T cells from cord blood	blood
5	chr12:8635000-8635600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr12:8635000-8636000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:8635400-8635600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:8635400-8635800	Enhancers	Lung	lung
9	chr12:8635400-8636000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:8635400-8636000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:8635400-8636000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:8635400-8636200	Enhancers	Spleen	Spleen
13	chr12:8635400-8636400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
14	chr12:8635600-8636000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:8635600-8636000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:8635600-8636000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:8635600-8636000	Enhancers	Duodenum Mucosa	Duodenum
18	chr12:8635600-8636200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr12:8635600-8638200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:8635800-8636200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:8636000-8636200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:8636000-8637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:8636600-8636800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:8636800-8637400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:8637200-8638600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:8637200-8638800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:8637400-8637600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:8637400-8638400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:8637400-8638600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:8637400-8638600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr12:8637400-8638600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:8637400-8638800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:8637400-8638800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:8637600-8638200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr12:8637600-8638400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:8637600-8638600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:8637600-8638600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:8637800-8638200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:8638200-8638600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr12:8638200-8638600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr12:8638200-8638600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:8638200-8638800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:8638600-8642200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:8642600-8645200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr12:8642800-8644400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:8643000-8649000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:8643200-8643400	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:8643400-8644000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:8643800-8645600	Enhancers	Primary T cells from cord blood	blood
50	chr12:8644000-8644600	Bivalent Enhancer	Primary B cells from cord blood	blood

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