Variant report

Variant	nsv873245
Chromosome Location	chr1:227683859-227697381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:367)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:227694830-227694953	MCF-7	breast:	n/a	chr1:227694877-227694885
2	CTCF	chr1:227694805-227694931	MCF-7	breast:	n/a	chr1:227694877-227694885
3	CTCF	chr1:227694795-227694938	H1-hESC	embryonic stem cell:	n/a	chr1:227694877-227694885
4	CTCF	chr1:227694794-227694940	MCF-7	breast:	n/a	chr1:227694877-227694885
5	CTCF	chr1:227693617-227693710	GM20000	blood:	n/a	n/a
6	CTCF	chr1:227695775-227695824	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr1:227694828-227694923	Hela-S3	cervix:	n/a	chr1:227694877-227694885
8	CTCF	chr1:227695547-227695598	GM20000	blood:	n/a	n/a
9	CTCF	chr1:227694940-227695034	LNCaP	prostate:	n/a	n/a
10	CTCF	chr1:227694878-227694910	GM12892	blood:	n/a	n/a
11	CTCF	chr1:227694812-227694942	K562	blood:	n/a	chr1:227694877-227694885
12	CTCF	chr1:227694802-227694901	GM19239	blood:	n/a	chr1:227694877-227694885
13	CTCF	chr1:227695610-227695616	GM20000	blood:	n/a	n/a
14	CTCF	chr1:227695819-227695856	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr1:227693268-227693325	GM20000	blood:	n/a	n/a
16	CTCF	chr1:227691552-227691637	GM13976	blood:	n/a	n/a
17	CTCF	chr1:227694831-227694940	MCF-7	breast:	n/a	chr1:227694877-227694885
18	CTCF	chr1:227692982-227693089	LNCaP	prostate:	n/a	n/a
19	CTCF	chr1:227694763-227694964	K562	blood:	n/a	chr1:227694877-227694885
20	CTCF	chr1:227694822-227694919	MCF-7	breast:	n/a	chr1:227694877-227694885
21	CTCF	chr1:227694832-227694911	NHEK	skin:	n/a	chr1:227694877-227694885
22	EBF1	chr1:227686177-227686393	GM12878	blood:	n/a	n/a
23	EBF1	chr1:227690298-227690514	GM12878	blood:	n/a	n/a
24	EP300	chr1:227693548-227693782	GM12878	blood:	n/a	n/a
25	GATA2	chr1:227684393-227684673	K562	blood:	n/a	n/a
26	GATA2	chr1:227691984-227692298	K562	blood:	n/a	n/a
27	MYC	chr1:227695860-227695916	HUVEC	blood vessel:	n/a	n/a
28	NRF1	chr1:227688604-227688609	H1-hESC	embryonic stem cell:	n/a	n/a
29	PBX3	chr1:227693565-227693704	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:227694994-227695123	K562	blood:	n/a	n/a
31	POLR2A	chr1:227696958-227697281	K562	blood:	n/a	n/a
32	POLR2A	chr1:227684578-227684702	K562	blood:	n/a	n/a
33	POLR2A	chr1:227684967-227685387	K562	blood:	n/a	n/a
34	POLR2A	chr1:227695971-227696123	K562	blood:	n/a	n/a
35	POLR2A	chr1:227688749-227688812	K562	blood:	n/a	n/a
36	POU2F2	chr1:227693469-227693883	GM12878	blood:	n/a	n/a
37	SPI1	chr1:227688317-227688472	K562	blood:	n/a	n/a
38	SPI1	chr1:227689355-227689622	GM12878	blood:	n/a	n/a
39	TCF3	chr1:227693576-227693855	GM12878	blood:	n/a	n/a
40	USF1	chr1:227693617-227693743	HepG2	liver:	n/a	n/a
41	USF1	chr1:227694805-227695007	HepG2	liver:	n/a	chr1:227694904-227694915
42	ZBTB33	chr1:227693507-227693826	GM12878	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227684434-227684484	GM12892	blood:	n/a
2	chr1:227684434-227684484	GM12892	blood:	n/a
3	chr1:227684434-227684484	HepG2	liver:	n/a
4	chr1:227696691-227696741	Hela-S3	cervix:	n/a
5	chr1:227696691-227696741	AG10803	skin:	n/a
6	chr1:227695939-227695989	GM12878	blood:	n/a
7	chr1:227689829-227689879	PrEC	prostate:	n/a
8	chr1:227689829-227689879	CMK	blood:	n/a
9	chr1:227695939-227695989	MCF10A-Er-Src	breast:	n/a
10	chr1:227684434-227684484	HUVEC	blood vessel:	n/a
11	chr1:227696691-227696741	HRCEpiC	kidney:	n/a
12	chr1:227692291-227692341	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:227696691-227696741	HIPEpiC	eye:	n/a
14	chr1:227696691-227696741	HEEpiC	esophagus:	n/a
15	chr1:227692291-227692341	A549	lung:	n/a
16	chr1:227692291-227692341	GM06990	blood:	n/a
17	chr1:227684434-227684484	HEK293	kidney:	embryo
18	chr1:227692291-227692341	AG10803	skin:	n/a
19	chr1:227696691-227696741	T-47D	breast:	n/a
20	chr1:227689829-227689879	HRE	kidney:	n/a
21	chr1:227695939-227695989	NB4	blood:	n/a
22	chr1:227692291-227692341	GM12878	blood:	n/a
23	chr1:227689829-227689879	LNCaP	prostate:	n/a
24	chr1:227684434-227684484	ProgFib	skin:	n/a
25	chr1:227686895-227686945	HNPCEpiC	eye:	n/a
26	chr1:227689829-227689879	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:227692291-227692341	PrEC	prostate:	n/a
28	chr1:227689829-227689879	K562	blood:	n/a
29	chr1:227692291-227692341	AoSMC	blood vessel:	n/a
30	chr1:227695939-227695989	U87	brain:	n/a
31	chr1:227686895-227686945	PFSK-1	brain:	n/a
32	chr1:227684434-227684484	PFSK-1	brain:	n/a
33	chr1:227689829-227689879	Caco-2	colon:	n/a
34	chr1:227696691-227696741	HCF	heart:	n/a
35	chr1:227696691-227696741	GM06990	blood:	n/a
36	chr1:227695939-227695989	NHBE	bronchial:	n/a
37	chr1:227689829-227689879	HCPEpiC	choroid plexus:	n/a
38	chr1:227689829-227689879	NB4	blood:	n/a
39	chr1:227686895-227686945	MCF-7	breast:	n/a
40	chr1:227684434-227684484	AG10803	skin:	n/a
41	chr1:227686895-227686945	LNCaP	prostate:	n/a
42	chr1:227692291-227692341	PANC-1	pancreas:	n/a
43	chr1:227692291-227692341	HIPEpiC	eye:	n/a
44	chr1:227692291-227692341	HCT-116	colon:	n/a
45	chr1:227689829-227689879	AG04450	lung:	fetal
46	chr1:227696691-227696741	MCF10A-Er-Src	breast:	n/a
47	chr1:227684434-227684484	RPTEC	kidney:	n/a
48	chr1:227695939-227695989	NHDF-neo	bronchial:	n/a
49	chr1:227692291-227692341	Caco-2	colon:	n/a
50	chr1:227695939-227695989	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:227687608..227690220-chr1:228135013..228137869,2	MCF-7	breast:
2	chr1:227695645..227697944-chr1:227752053..227753592,2	K562	blood:
3	chr1:227696113..227699015-chr1:227705081..227707461,4	K562	blood:
4	chr1:227696655..227700997-chr1:227705079..227707461,4	K562	blood:

No data

Variant related genes	Relation type
TUBB8P10	TF binding region
TUBB8P9	TF binding region
TUBB8P10	CpG island
TUBB8P9	CpG island
ENSG00000143816	chromatin interactions

Extended variants
information (count: 255 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61833930	chr1:227684476-227684477	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs61833931	chr1:227684482-227684483	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	mRNA abundance
3	rs61833932	chr1:227684486-227684487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
4	rs548834381	chr1:227684581-227684582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201732039	chr1:227684669-227684670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs148571287	chr1:227684975-227684976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144589916	chr1:227684987-227684988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541883009	chr1:227685002-227685003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs145563222	chr1:227685003-227685004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs575450205	chr1:227685008-227685009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs545586677	chr1:227685013-227685014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs199920463	chr1:227685025-227685026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs563979918	chr1:227685029-227685030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs368774112	chr1:227685035-227685036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs539967037	chr1:227685044-227685045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561649447	chr1:227685063-227685064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs373457806	chr1:227685083-227685084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs377402916	chr1:227685088-227685089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs142685832	chr1:227685137-227685138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs77378865	chr1:227685174-227685175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs149544458	chr1:227685176-227685177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563960916	chr1:227685212-227685213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531279179	chr1:227685216-227685217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs200268776	chr1:227685304-227685305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs371317452	chr1:227685323-227685324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs200863798	chr1:227685337-227685338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs368798247	chr1:227685349-227685350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs371045496	chr1:227685358-227685359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs367741503	chr1:227686205-227686206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371614161	chr1:227686212-227686213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs535101828	chr1:227686226-227686227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs376219372	chr1:227686228-227686229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2078315	chr1:227686229-227686230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs547045837	chr1:227686295-227686296	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568469434	chr1:227686297-227686298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs115491319	chr1:227686895-227686896	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs149764075	chr1:227686896-227686897	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs182763249	chr1:227686906-227686907	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs117278508	chr1:227686907-227686908	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs550486178	chr1:227686930-227686931	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs145872930	chr1:227686932-227686933	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs566427325	chr1:227687608-227687609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs116571110	chr1:227687616-227687617	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527369382	chr1:227687647-227687648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567380456	chr1:227687692-227687693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188204106	chr1:227687712-227687713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556261420	chr1:227687713-227687714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577824787	chr1:227687733-227687734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141638713	chr1:227687734-227687735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192439240	chr1:227687743-227687744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227696200-227696400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:227696400-227696600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:227696400-227696600	ZNF genes & repeats	Right Atrium	heart
4	chr1:227696600-227699600	Weak transcription	Right Atrium	heart

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