Variant report

Variant	nsv898868
Chromosome Location	chr12:20993935-21016568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 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	chr12:21016151-21016207	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:21009320-21009470	A549	lung:	n/a	n/a
4	CTCF	chr12:21009530-21009554	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:21016080-21016230	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr12:21009487-21009574	LNCaP	prostate:	n/a	n/a
7	CTCF	chr12:21016167-21016176	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr12:21016100-21016250	Caco-2	colon:	n/a	n/a
9	CTCF	chr12:21009546-21009596	A549	lung:	n/a	n/a
10	CTCF	chr12:21009590-21009613	GM20000	blood:	n/a	n/a
11	CTCF	chr12:21016018-21016303	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr12:21009478-21009610	LNCaP	prostate:	n/a	n/a
13	CTCF	chr12:20994140-20994290	A549	lung:	n/a	n/a
14	CUX1	chr12:21006808-21006809	GM12878	blood:	n/a	n/a
15	EP300	chr12:21007924-21007986	K562	blood:	n/a	chr12:21007935-21007949
16	JUN	chr12:21005683-21005878	HepG2	liver:	n/a	chr12:21005780-21005793
17	JUND	chr12:21005683-21005941	HepG2	liver:	n/a	n/a
18	MYC	chr12:21006302-21006464	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr12:21007890-21008147	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr12:20995983-20996076	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:21002290-21002435	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:21007922-21007930	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr12:21000478-21000629	MCF10A-Er-Src	breast:	n/a	n/a
24	RAD21	chr12:21016020-21016305	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr12:21015994-21016339	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr12:21016036-21016267	H1-hESC	embryonic stem cell:	n/a	n/a
27	SETDB1	chr12:20995438-20995800	U2OS	brain:	n/a	n/a
28	STAT3	chr12:20999091-20999124	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr12:21001756-21001990	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr12:20999600-20999652	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr12:21005605-21005922	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr12:20999509-20999734	MCF10A-Er-Src	breast:	n/a	chr12:20999670-20999678

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21015340-21015390	HEEpiC	esophagus:	n/a
2	chr12:21014317-21014367	SK-N-SH	brain:	n/a
3	chr12:21014317-21014367	T-47D	breast:	n/a
4	chr12:21014317-21014367	NB4	blood:	n/a
5	chr12:21014317-21014367	LNCaP	prostate:	n/a
6	chr12:21015340-21015390	CMK	blood:	n/a
7	chr12:21014317-21014367	HEK293	kidney:	embryo
8	chr12:21015340-21015390	H1-hESC	embryonic stem cell:	embryo
9	chr12:21014317-21014367	AoSMC	blood vessel:	n/a
10	chr12:21015340-21015390	GM19239	blood:	n/a
11	chr12:21015340-21015390	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:21014317-21014367	HRE	kidney:	n/a
13	chr12:21014317-21014367	HRPEpiC	eye:	n/a
14	chr12:21015340-21015390	Jurkat	blood:	n/a
15	chr12:21014317-21014367	HNPCEpiC	eye:	n/a
16	chr12:21015340-21015390	SKMC	muscle:	n/a
17	chr12:21014317-21014367	GM12878	blood:	n/a
18	chr12:21015340-21015390	HAEpiC	amniotic membrane:	n/a
19	chr12:21014317-21014367	AG10803	skin:	n/a
20	chr12:21014317-21014367	GM12891	blood:	n/a
21	chr12:21015340-21015390	Caco-2	colon:	n/a
22	chr12:21014317-21014367	Jurkat	blood:	n/a
23	chr12:21014317-21014367	HCM	heart:	n/a
24	chr12:21014317-21014367	AG04450	lung:	fetal
25	chr12:21014317-21014367	HCF	heart:	n/a
26	chr12:21014317-21014367	HRCEpiC	kidney:	n/a
27	chr12:21015340-21015390	HCM	heart:	n/a
28	chr12:21014317-21014367	Hela-S3	cervix:	n/a
29	chr12:21015340-21015390	LNCaP	prostate:	n/a
30	chr12:21015340-21015390	AG09309	skin:	n/a
31	chr12:21014317-21014367	IMR90	lung:	fetal
32	chr12:21014317-21014367	AG09319	gingival:	n/a
33	chr12:21014317-21014367	BJ	skin:	n/a
34	chr12:21014317-21014367	A549	lung:	n/a
35	chr12:21015340-21015390	SK-N-MC	brain:	n/a
36	chr12:21015340-21015390	NHBE	bronchial:	n/a
37	chr12:21014317-21014367	HMEC	breast:	n/a
38	chr12:21015340-21015390	AG04449	skin:	fetal
39	chr12:21014317-21014367	CMK	blood:	n/a
40	chr12:21014317-21014367	HCPEpiC	choroid plexus:	n/a
41	chr12:21014317-21014367	AG09309	skin:	n/a
42	chr12:21015340-21015390	ECC-1	luminal epithelium:	n/a
43	chr12:21015340-21015390	T-47D	breast:	n/a
44	chr12:21015340-21015390	A549	lung:	n/a
45	chr12:21015340-21015390	PANC-1	pancreas:	n/a
46	chr12:21015340-21015390	Hela-S3	cervix:	n/a
47	chr12:21014317-21014367	BE2_C	brain:	n/a
48	chr12:21015340-21015390	HL-60	blood:	n/a
49	chr12:21015340-21015390	BJ	skin:	n/a
50	chr12:21015340-21015390	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000256157	TF binding region
SLCO1B3	TF binding region
ENSG00000256157	CpG island
SLCO1B3	CpG island

Extended variants
information (count: 1119 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1119 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1588917	chr12:20993935-20993936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35469395	chr12:20993949-20993950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148914555	chr12:20993960-20993961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544559626	chr12:20993974-20993975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374253498	chr12:20994000-20994001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574686657	chr12:20994013-20994014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540338945	chr12:20994029-20994030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144593783	chr12:20994118-20994119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560166567	chr12:20994121-20994122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147885935	chr12:20994155-20994156	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs141613069	chr12:20994191-20994192	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs147067772	chr12:20994209-20994210	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs61219310	chr12:20994211-20994212	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10841668	chr12:20994284-20994285	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112299977	chr12:20994287-20994288	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs12228760	chr12:20994302-20994303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536402373	chr12:20994318-20994319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10841669	chr12:20994327-20994328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566536597	chr12:20994339-20994340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538723731	chr12:20994362-20994363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369660620	chr12:20994365-20994366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142746580	chr12:20994373-20994374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368342445	chr12:20994376-20994377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386761010	chr12:20994397-20994398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112614092	chr12:20994398-20994399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10770749	chr12:20994399-20994400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187750125	chr12:20994401-20994402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554924863	chr12:20994406-20994407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193158063	chr12:20994424-20994425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144547501	chr12:20994443-20994444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540400815	chr12:20994447-20994448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201951376	chr12:20994448-20994449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373253018	chr12:20994449-20994450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77656478	chr12:20994450-20994451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369271564	chr12:20994469-20994470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1515768	chr12:20994485-20994486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs554592772	chr12:20994533-20994534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35221426	chr12:20994536-20994537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117005939	chr12:20994540-20994541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560794019	chr12:20994606-20994607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531567000	chr12:20994635-20994636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550852375	chr12:20994637-20994638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561136148	chr12:20994653-20994654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185016851	chr12:20994676-20994677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532615389	chr12:20994682-20994683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189912252	chr12:20994693-20994694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192759511	chr12:20994698-20994699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566651093	chr12:20994704-20994705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375324296	chr12:20994712-20994713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538775314	chr12:20994731-20994732	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20983400-20996400	Weak transcription	Hela-S3	cervix
2	chr12:20983600-20995600	Weak transcription	Liver	Liver
3	chr12:20995600-20996000	ZNF genes & repeats	Liver	Liver
4	chr12:20995600-20996000	ZNF genes & repeats	A549	lung
5	chr12:20996000-20997400	Weak transcription	A549	lung
6	chr12:20996000-21004800	Weak transcription	Liver	Liver
7	chr12:20997400-20997600	ZNF genes & repeats	A549	lung
8	chr12:20997600-20999200	Weak transcription	A549	lung
9	chr12:20999200-20999600	ZNF genes & repeats	A549	lung
10	chr12:21004800-21005000	ZNF genes & repeats	Liver	Liver
11	chr12:21006200-21011000	Weak transcription	Liver	Liver
12	chr12:21006600-21018000	Weak transcription	A549	lung
13	chr12:21007200-21007800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:21007400-21007800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:21007400-21007800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:21007400-21008200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:21007600-21008000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:21011000-21014600	Strong transcription	Liver	Liver
19	chr12:21014600-21015400	Weak transcription	Liver	Liver
20	chr12:21015400-21018400	Strong transcription	Liver	Liver

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