Variant report

Variant	nsv970127
Chromosome Location	chr6:58182826-58206161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:58192220-58192422	GM12878	blood:	n/a	n/a
2	BATF	chr6:58205099-58205316	GM12878	blood:	n/a	n/a
3	BCL11A	chr6:58205087-58205300	GM12878	blood:	n/a	n/a
4	CTCF	chr6:58198616-58198623	GM13976	blood:	n/a	n/a
5	CTCF	chr6:58200600-58200651	GM20000	blood:	n/a	n/a
6	CTCF	chr6:58198624-58198735	GM13976	blood:	n/a	n/a
7	CTCF	chr6:58191101-58191131	GM13976	blood:	n/a	n/a
8	CTCF	chr6:58199015-58199109	GM13976	blood:	n/a	n/a
9	EBF1	chr6:58205147-58205460	GM12878	blood:	n/a	n/a
10	EP300	chr6:58192148-58192518	GM12878	blood:	n/a	n/a
11	FOSL2	chr6:58187380-58187723	HepG2	liver:	n/a	n/a
12	FOSL2	chr6:58182588-58182839	HepG2	liver:	n/a	n/a
13	FOSL2	chr6:58186839-58187252	HepG2	liver:	n/a	n/a
14	FOSL2	chr6:58183979-58184234	HepG2	liver:	n/a	n/a
15	FOXA1	chr6:58204715-58205133	HepG2	liver:	n/a	n/a
16	FOXA1	chr6:58191216-58191580	HepG2	liver:	n/a	n/a
17	FOXA1	chr6:58196068-58196508	HepG2	liver:	n/a	n/a
18	FOXA1	chr6:58186888-58187339	HepG2	liver:	n/a	n/a
19	GABPA	chr6:58203061-58203326	HL-60	blood:	n/a	n/a
20	GATA2	chr6:58192242-58192672	K562	blood:	n/a	chr6:58192417-58192433 chr6:58192417-58192433 chr6:58192415-58192436 chr6:58192611-58192622
21	GATA2	chr6:58196102-58196353	K562	blood:	n/a	n/a
22	IRF4	chr6:58205033-58205491	GM12878	blood:	n/a	n/a
23	JUND	chr6:58186975-58187151	HepG2	liver:	n/a	n/a
24	JUND	chr6:58192220-58192403	HepG2	liver:	n/a	chr6:58192387-58192397 chr6:58192387-58192397 chr6:58192387-58192397
25	JUND	chr6:58196080-58196251	HepG2	liver:	n/a	n/a
26	MAX	chr6:58199225-58199424	NB4	blood:	n/a	chr6:58199287-58199297 chr6:58199250-58199260 chr6:58199263-58199273
27	PAX5	chr6:58187510-58187697	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:58204609-58204967	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr6:58199859-58199985	Gliobla	brain:	n/a	n/a
30	POU2F2	chr6:58202177-58202429	GM12878	blood:	n/a	n/a
31	RXRA	chr6:58192011-58192487	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr6:58196145-58196307	HepG2	liver:	n/a	n/a
33	SIX5	chr6:58192136-58192385	K562	blood:	n/a	n/a
34	SPI1	chr6:58205039-58205505	GM12891	blood:	n/a	n/a
35	SPI1	chr6:58203086-58203322	K562	blood:	n/a	n/a
36	SPI1	chr6:58203035-58203305	K562	blood:	n/a	n/a
37	SPI1	chr6:58203025-58203294	GM12878	blood:	n/a	n/a
38	SPI1	chr6:58203048-58203313	HL-60	blood:	n/a	n/a
39	SPI1	chr6:58205068-58205407	K562	blood:	n/a	n/a
40	SPI1	chr6:58203329-58203500	K562	blood:	n/a	n/a
41	SPI1	chr6:58205123-58205354	HL-60	blood:	n/a	n/a
42	SPI1	chr6:58204982-58205479	GM12891	blood:	n/a	n/a
43	SPI1	chr6:58205108-58205391	GM12878	blood:	n/a	n/a
44	SPI1	chr6:58204809-58205670	GM12878	blood:	n/a	n/a
45	SPI1	chr6:58203057-58203212	GM12878	blood:	n/a	n/a
46	SPI1	chr6:58203043-58203337	HL-60	blood:	n/a	n/a
47	SPI1	chr6:58205102-58205356	K562	blood:	n/a	n/a
48	SPI1	chr6:58203313-58203506	GM12878	blood:	n/a	n/a
49	SPI1	chr6:58202955-58203380	GM12891	blood:	n/a	n/a
50	SPI1	chr6:58202970-58203481	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:58182993-58183043	SAEC	small airway:	n/a
2	chr6:58182993-58183043	IMR90	lung:	fetal
3	chr6:58182993-58183043	HNPCEpiC	eye:	n/a
4	chr6:58182993-58183043	HCF	heart:	n/a
5	chr6:58182993-58183043	K562	blood:	n/a
6	chr6:58182993-58183043	HRCEpiC	kidney:	n/a
7	chr6:58182993-58183043	HRPEpiC	eye:	n/a
8	chr6:58182993-58183043	PANC-1	pancreas:	n/a
9	chr6:58182993-58183043	HCM	heart:	n/a
10	chr6:58182993-58183043	MCF-7	breast:	n/a
11	chr6:58182993-58183043	U87	brain:	n/a
12	chr6:58182993-58183043	CMK	blood:	n/a
13	chr6:58182993-58183043	AoSMC	blood vessel:	n/a
14	chr6:58182993-58183043	ovcar-3	ovarian:	n/a
15	chr6:58182993-58183043	HCT-116	colon:	n/a
16	chr6:58182993-58183043	HRE	kidney:	n/a
17	chr6:58182993-58183043	AG10803	skin:	n/a
18	chr6:58182993-58183043	NT2-D1	testis:	n/a
19	chr6:58182993-58183043	NHBE	bronchial:	n/a
20	chr6:58182993-58183043	GM12892	blood:	n/a
21	chr6:58182993-58183043	PrEC	prostate:	n/a
22	chr6:58182993-58183043	HAEpiC	amniotic membrane:	n/a
23	chr6:58182993-58183043	H1-hESC	embryonic stem cell:	embryo
24	chr6:58182993-58183043	HMEC	breast:	n/a
25	chr6:58182993-58183043	SK-N-MC	brain:	n/a
26	chr6:58182993-58183043	HEEpiC	esophagus:	n/a
27	chr6:58182993-58183043	NH-A	brain:	n/a
28	chr6:58182993-58183043	SKMC	muscle:	n/a
29	chr6:58182993-58183043	ECC-1	luminal epithelium:	n/a
30	chr6:58182993-58183043	T-47D	breast:	n/a
31	chr6:58182993-58183043	MCF10A-Er-Src	breast:	n/a
32	chr6:58182993-58183043	A549	lung:	n/a
33	chr6:58182993-58183043	HUVEC	blood vessel:	n/a
34	chr6:58182993-58183043	LNCaP	prostate:	n/a
35	chr6:58182993-58183043	BE2_C	brain:	n/a
36	chr6:58182993-58183043	GM12878	blood:	n/a
37	chr6:58182993-58183043	GM19239	blood:	n/a
38	chr6:58182993-58183043	Jurkat	blood:	n/a
39	chr6:58182993-58183043	HIPEpiC	eye:	n/a
40	chr6:58182993-58183043	RPTEC	kidney:	n/a
41	chr6:58182993-58183043	HL-60	blood:	n/a
42	chr6:58182993-58183043	PFSK-1	brain:	n/a
43	chr6:58182993-58183043	AG09319	gingival:	n/a
44	chr6:58182993-58183043	NHDF-neo	bronchial:	n/a
45	chr6:58182993-58183043	Hepatocyte	liver:	n/a
46	chr6:58182993-58183043	HEK293	kidney:	embryo
47	chr6:58182993-58183043	AG09309	skin:	n/a
48	chr6:58182993-58183043	Caco-2	colon:	n/a
49	chr6:58182993-58183043	GM12891	blood:	n/a
50	chr6:58182993-58183043	AG04450	lung:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAG2-4	chr6:58186873-58187271	XLOC_005332
2	lnc-BAG2-4	chr6:58182220-58183029	XLOC_005332
3	lnc-RAB23-17	chr6:58192326-58192620	NONHSAT113305
4	lnc-RAB23-17	chr6:58186881-58187205	NONHSAT113305

No data

Variant related genes	Relation type
ENSG00000272541	TF binding region
ENSG00000272541	CpG island

Extended variants
information (count: 201 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2743060	chr6:58182888-58182889	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570677565	chr6:58182945-58182946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs527611454	chr6:58182957-58182958	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs138677212	chr6:58182959-58182960	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs539301443	chr6:58182962-58182963	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs565869278	chr6:58182976-58182977	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs536363237	chr6:58182977-58182978	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs555509739	chr6:58182993-58182994	Inactive region	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs1826200	chr6:58182998-58182999	Inactive region	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs553120913	chr6:58183008-58183009	Inactive region	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs2743062	chr6:58183022-58183023	Inactive region	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs570087382	chr6:58183959-58183960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs138313196	chr6:58183974-58183975	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs549975959	chr6:58183981-58183982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs571473128	chr6:58183984-58183985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs188013655	chr6:58184002-58184003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs12661590	chr6:58184032-58184033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs138557859	chr6:58184041-58184042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs565664699	chr6:58184053-58184054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs372472027	chr6:58184083-58184084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs9500352	chr6:58184108-58184109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554632098	chr6:58184135-58184136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs576020524	chr6:58184136-58184137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528651240	chr6:58184197-58184198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs558678034	chr6:58184212-58184213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577031587	chr6:58184222-58184223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs562209685	chr6:58186844-58186845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs114461005	chr6:58186855-58186856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs541974028	chr6:58186862-58186863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563164282	chr6:58186893-58186894	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs371267561	chr6:58186904-58186905	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs142192287	chr6:58186959-58186960	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs2758387	chr6:58186967-58186968	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs545700713	chr6:58186997-58186998	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs563727855	chr6:58187017-58187018	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs150730782	chr6:58187055-58187056	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs546354330	chr6:58187114-58187115	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs551027446	chr6:58187187-58187188	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs528997084	chr6:58187215-58187216	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs9391420	chr6:58187267-58187268	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs2258186	chr6:58187282-58187283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
42	rs540098486	chr6:58187305-58187306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs558529566	chr6:58187325-58187326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2258185	chr6:58187327-58187328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
45	rs555492617	chr6:58187396-58187397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs574050227	chr6:58187413-58187414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537954779	chr6:58187426-58187427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs186680477	chr6:58187460-58187461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs545686684	chr6:58187476-58187477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs4087121	chr6:58187492-58187493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58198400-58201000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:58199000-58200000	ZNF genes & repeats	Fetal Lung	lung
3	chr6:58199200-58199800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr6:58199200-58199800	ZNF genes & repeats	Dnd41	blood
5	chr6:58199400-58200000	ZNF genes & repeats	Fetal Heart	heart
6	chr6:58199800-58200000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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