Variant report

Variant	nsv898873
Chromosome Location	chr12:21008004-21015760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:21015510-21015751	A549	lung:	n/a	n/a
2	CTCF	chr12:21009546-21009596	A549	lung:	n/a	n/a
3	CTCF	chr12:21009478-21009610	LNCaP	prostate:	n/a	n/a
4	CTCF	chr12:21009487-21009574	LNCaP	prostate:	n/a	n/a
5	CTCF	chr12:21009590-21009613	GM20000	blood:	n/a	n/a
6	CTCF	chr12:21009320-21009470	A549	lung:	n/a	n/a
7	CTCF	chr12:21009530-21009554	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:21007890-21008147	H1-neurons	neurons:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21015340-21015390	AG10803	skin:	n/a
2	chr12:21014317-21014367	HCF	heart:	n/a
3	chr12:21015340-21015390	GM06990	blood:	n/a
4	chr12:21014317-21014367	HIPEpiC	eye:	n/a
5	chr12:21015340-21015390	U87	brain:	n/a
6	chr12:21015340-21015390	T-47D	breast:	n/a
7	chr12:21014317-21014367	LNCaP	prostate:	n/a
8	chr12:21014317-21014367	SK-N-SH_RA	brain:	n/a
9	chr12:21015340-21015390	ProgFib	skin:	n/a
10	chr12:21014317-21014367	K562	blood:	n/a
11	chr12:21015340-21015390	A549	lung:	n/a
12	chr12:21014317-21014367	BE2_C	brain:	n/a
13	chr12:21015340-21015390	NHBE	bronchial:	n/a
14	chr12:21015340-21015390	BJ	skin:	n/a
15	chr12:21015340-21015390	MCF10A-Er-Src	breast:	n/a
16	chr12:21014317-21014367	GM19239	blood:	n/a
17	chr12:21014317-21014367	Hepatocyte	liver:	n/a
18	chr12:21015340-21015390	AoSMC	blood vessel:	n/a
19	chr12:21014317-21014367	HEEpiC	esophagus:	n/a
20	chr12:21014317-21014367	NHBE	bronchial:	n/a
21	chr12:21014317-21014367	GM06990	blood:	n/a
22	chr12:21014317-21014367	CMK	blood:	n/a
23	chr12:21014317-21014367	MCF10A-Er-Src	breast:	n/a
24	chr12:21014317-21014367	SAEC	small airway:	n/a
25	chr12:21015340-21015390	HL-60	blood:	n/a
26	chr12:21014317-21014367	AG09309	skin:	n/a
27	chr12:21015340-21015390	Hela-S3	cervix:	n/a
28	chr12:21015340-21015390	PFSK-1	brain:	n/a
29	chr12:21015340-21015390	SK-N-MC	brain:	n/a
30	chr12:21014317-21014367	Caco-2	colon:	n/a
31	chr12:21015340-21015390	HCPEpiC	choroid plexus:	n/a
32	chr12:21014317-21014367	GM12892	blood:	n/a
33	chr12:21015340-21015390	GM12891	blood:	n/a
34	chr12:21015340-21015390	PrEC	prostate:	n/a
35	chr12:21014317-21014367	AG04449	skin:	fetal
36	chr12:21015340-21015390	AG09309	skin:	n/a
37	chr12:21015340-21015390	MCF-7	breast:	n/a
38	chr12:21014317-21014367	HAEpiC	amniotic membrane:	n/a
39	chr12:21014317-21014367	PANC-1	pancreas:	n/a
40	chr12:21015340-21015390	K562	blood:	n/a
41	chr12:21014317-21014367	ProgFib	skin:	n/a
42	chr12:21015340-21015390	NHDF-neo	bronchial:	n/a
43	chr12:21014317-21014367	HUVEC	blood vessel:	n/a
44	chr12:21015340-21015390	HRCEpiC	kidney:	n/a
45	chr12:21014317-21014367	T-47D	breast:	n/a
46	chr12:21015340-21015390	NH-A	brain:	n/a
47	chr12:21015340-21015390	HIPEpiC	eye:	n/a
48	chr12:21014317-21014367	SKMC	muscle:	n/a
49	chr12:21014317-21014367	MCF-7	breast:	n/a
50	chr12:21015340-21015390	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
SLCO1B3	TF binding region
SLCO1B3	CpG island

Extended variants
information (count: 417 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11045565	chr12:21008004-21008005	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs578259935	chr12:21008018-21008019	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs57325543	chr12:21008031-21008032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117554616	chr12:21008039-21008040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374761449	chr12:21008042-21008043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190960788	chr12:21008058-21008059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543120401	chr12:21008064-21008065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151295214	chr12:21008067-21008068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558592800	chr12:21008080-21008081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374641951	chr12:21008086-21008087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368817817	chr12:21008088-21008089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200473248	chr12:21008090-21008091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528572408	chr12:21008141-21008142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7302920	chr12:21008143-21008144	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180681772	chr12:21008192-21008193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533061572	chr12:21008207-21008208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575641112	chr12:21008220-21008221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187214472	chr12:21008300-21008301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4149109	chr12:21008356-21008357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs35308450	chr12:21008396-21008397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529051077	chr12:21008409-21008410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560925909	chr12:21008410-21008411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4149110	chr12:21008432-21008433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7303743	chr12:21008498-21008499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs371185830	chr12:21008512-21008513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373603904	chr12:21008556-21008557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138010878	chr12:21008561-21008562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567202916	chr12:21008592-21008593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35056493	chr12:21008593-21008594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35228554	chr12:21008730-21008731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77638597	chr12:21008846-21008847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143555681	chr12:21008888-21008889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74067318	chr12:21008908-21008909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201000252	chr12:21008970-21008971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543127592	chr12:21008990-21008991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557334065	chr12:21009003-21009004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190885888	chr12:21009012-21009013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183098103	chr12:21009045-21009046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10841672	chr12:21009049-21009050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145926334	chr12:21009069-21009070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564922119	chr12:21009080-21009081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531137971	chr12:21009145-21009146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187606474	chr12:21009149-21009150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10841673	chr12:21009213-21009214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190566022	chr12:21009218-21009219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10841674	chr12:21009253-21009254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529171266	chr12:21009310-21009311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548945487	chr12:21009329-21009330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10841675	chr12:21009359-21009360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138844062	chr12:21009370-21009371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21006200-21011000	Weak transcription	Liver	Liver
2	chr12:21006600-21018000	Weak transcription	A549	lung
3	chr12:21007400-21008200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:21011000-21014600	Strong transcription	Liver	Liver
5	chr12:21014600-21015400	Weak transcription	Liver	Liver
6	chr12:21015400-21018400	Strong transcription	Liver	Liver

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