Variant report

Variant	nsv886106
Chromosome Location	chr6:68072138-68186228
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	ATF1	chr6:68143118-68143403	K562	blood:	n/a	n/a
2	ATF1	chr6:68072771-68073293	K562	blood:	n/a	n/a
3	ATF3	chr6:68143086-68143416	K562	blood:	n/a	n/a
4	BATF	chr6:68159574-68159759	GM12878	blood:	n/a	n/a
5	BATF	chr6:68159560-68159863	GM12878	blood:	n/a	n/a
6	BHLHE40	chr6:68112393-68112571	GM12878	blood:	n/a	n/a
7	BHLHE40	chr6:68109011-68109057	GM12878	blood:	n/a	n/a
8	BHLHE40	chr6:68159661-68159872	GM12878	blood:	n/a	n/a
9	BRCA1	chr6:68073065-68073089	HepG2	liver:	n/a	n/a
10	CBX3	chr6:68168194-68168505	K562	blood:	n/a	n/a
11	CBX3	chr6:68104201-68104505	K562	blood:	n/a	n/a
12	CBX3	chr6:68072741-68073220	K562	blood:	n/a	n/a
13	CBX3	chr6:68168187-68168596	K562	blood:	n/a	n/a
14	CCNT2	chr6:68079697-68079914	K562	blood:	n/a	chr6:68079717-68079737
15	CCNT2	chr6:68152042-68152242	K562	blood:	n/a	n/a
16	CCNT2	chr6:68143139-68143339	K562	blood:	n/a	n/a
17	CEBPB	chr6:68101796-68102249	Hela-S3	cervix:	n/a	chr6:68101934-68101947 chr6:68101934-68101947 chr6:68102053-68102066 chr6:68101936-68101947 chr6:68102053-68102064
18	CEBPB	chr6:68139972-68140562	HepG2	liver:	n/a	chr6:68140145-68140156
19	CEBPB	chr6:68149313-68149536	HepG2	liver:	n/a	chr6:68149429-68149440 chr6:68149429-68149442
20	CEBPB	chr6:68140021-68140300	IMR90	lung:	n/a	chr6:68140145-68140156
21	CEBPB	chr6:68096675-68097112	A549	lung:	n/a	chr6:68096763-68096774
22	CEBPB	chr6:68099666-68099744	K562	blood:	n/a	n/a
23	CEBPB	chr6:68092161-68092438	IMR90	lung:	n/a	chr6:68092282-68092293 chr6:68092282-68092295 chr6:68092284-68092295 chr6:68092284-68092293 chr6:68092282-68092295
24	CEBPB	chr6:68092140-68092434	K562	blood:	n/a	chr6:68092282-68092293 chr6:68092282-68092295 chr6:68092284-68092295 chr6:68092284-68092293 chr6:68092282-68092295
25	CEBPB	chr6:68182476-68182771	HepG2	liver:	n/a	chr6:68182587-68182600 chr6:68182589-68182600 chr6:68182587-68182598 chr6:68182587-68182600
26	CEBPB	chr6:68103151-68103385	HepG2	liver:	n/a	chr6:68103300-68103311 chr6:68103301-68103312
27	CEBPB	chr6:68143115-68143284	K562	blood:	n/a	chr6:68143228-68143239
28	CEBPB	chr6:68101890-68102226	HepG2	liver:	n/a	chr6:68101934-68101947 chr6:68101934-68101947 chr6:68102053-68102066 chr6:68101936-68101947 chr6:68102053-68102064
29	CEBPB	chr6:68143053-68143422	K562	blood:	n/a	chr6:68143228-68143239
30	CEBPB	chr6:68078311-68078543	A549	lung:	n/a	n/a
31	CEBPB	chr6:68140017-68140312	K562	blood:	n/a	chr6:68140145-68140156
32	CEBPB	chr6:68118240-68118347	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr6:68072952-68073338	K562	blood:	n/a	chr6:68073141-68073154 chr6:68073141-68073152
34	CEBPB	chr6:68100585-68100828	HepG2	liver:	n/a	chr6:68100678-68100691 chr6:68100679-68100690
35	CEBPB	chr6:68128031-68128251	HepG2	liver:	n/a	chr6:68128128-68128139
36	CEBPB	chr6:68096704-68096831	K562	blood:	n/a	chr6:68096763-68096774
37	CEBPB	chr6:68092189-68092394	A549	lung:	n/a	chr6:68092282-68092293 chr6:68092282-68092295 chr6:68092284-68092295 chr6:68092284-68092293 chr6:68092282-68092295
38	CEBPB	chr6:68143105-68143354	H1-hESC	embryonic stem cell:	n/a	chr6:68143228-68143239
39	CEBPB	chr6:68096628-68096961	HepG2	liver:	n/a	chr6:68096763-68096774
40	CEBPB	chr6:68072857-68073356	K562	blood:	n/a	chr6:68073141-68073154 chr6:68073141-68073152
41	CEBPB	chr6:68072988-68073260	K562	blood:	n/a	chr6:68073141-68073154 chr6:68073141-68073152
42	CEBPB	chr6:68182461-68182760	K562	blood:	n/a	chr6:68182587-68182600 chr6:68182589-68182600 chr6:68182587-68182598 chr6:68182587-68182600
43	CEBPB	chr6:68143076-68143417	HepG2	liver:	n/a	chr6:68143228-68143239
44	CEBPB	chr6:68101891-68102205	K562	blood:	n/a	chr6:68101934-68101947 chr6:68101934-68101947 chr6:68102053-68102066 chr6:68101936-68101947 chr6:68102053-68102064
45	CEBPB	chr6:68092103-68092439	HepG2	liver:	n/a	chr6:68092282-68092293 chr6:68092282-68092295 chr6:68092284-68092295 chr6:68092284-68092293 chr6:68092282-68092295
46	CEBPB	chr6:68143040-68143424	K562	blood:	n/a	chr6:68143228-68143239
47	CEBPB	chr6:68084423-68084603	K562	blood:	n/a	n/a
48	CEBPB	chr6:68182534-68182752	A549	lung:	n/a	chr6:68182587-68182600 chr6:68182589-68182600 chr6:68182587-68182598 chr6:68182587-68182600
49	CEBPB	chr6:68176817-68177041	K562	blood:	n/a	n/a
50	CEBPB	chr6:68101971-68102126	H1-hESC	embryonic stem cell:	n/a	chr6:68102053-68102066 chr6:68102053-68102064

No.	Distal block	Cell Line	Cell type
1	chr6:68105788..68108558-chr6:68122131..68123769,2	K562	blood:
2	chr6:68151435..68153326-chr6:68157000..68158589,2	MCF-7	breast:
3	chr6:68150563..68152778-chr6:68155646..68157250,2	K562	blood:
4	chr6:68085152..68088022-chr6:68089241..68092194,2	MCF-7	breast:
5	chr6:68149200..68150953-chr6:68151779..68154440,2	K562	blood:
6	chr6:68170096..68172631-chr6:68173230..68175635,2	K562	blood:
7	chr6:68117687..68119606-chr6:68122416..68125394,2	K562	blood:
8	chr6:68099897..68102194-chr6:68105769..68107802,2	K562	blood:
9	chr6:68148314..68150953-chr6:68152002..68154440,2	K562	blood:
10	chr6:68075451..68077006-chr6:68082097..68085010,2	K562	blood:
11	chr6:68161779..68164395-chr6:68176566..68178656,2	K562	blood:
12	chr6:68142298..68144870-chr6:68147425..68149399,2	K562	blood:
13	chr3:40565910..40566852-chr6:68076614..68077483,2	MCF-7	breast:
14	chr6:68077520..68081954-chr6:68082718..68085102,4	K562	blood:
15	chr6:68150563..68152778-chr6:68155646..68157250,2	K562	blood:
16	chr6:68166848..68170482-chr6:68173830..68176877,3	K562	blood:
17	chr6:68170096..68172631-chr6:68173230..68175635,2	K562	blood:
18	chr6:68117687..68119606-chr6:68122416..68125394,2	K562	blood:
19	chr14:90865957..90866488-chr6:68144436..68144955,2	MCF-7	breast:
20	chr6:68100365..68102401-chr6:68111000..68113004,2	K562	blood:
21	chr6:68184037..68187227-chr6:68190203..68192968,3	K562	blood:
22	chr6:68026494..68028999-chr6:68072957..68074504,2	K562	blood:
23	chr6:68153475..68156180-chr6:68165524..68167480,2	K562	blood:
24	chr6:68151435..68153326-chr6:68157000..68158589,2	MCF-7	breast:
25	chr6:68077520..68081954-chr6:68082718..68085102,4	K562	blood:
26	chr6:68155527..68157923-chr6:68158676..68160978,2	K562	blood:
27	chr6:68100365..68102401-chr6:68111000..68113004,2	K562	blood:
28	chr6:68105788..68108558-chr6:68122131..68123769,2	K562	blood:
29	chr6:68116391..68119187-chr6:68123257..68125394,2	K562	blood:
30	chr6:68130955..68133450-chr6:68149900..68151602,2	MCF-7	breast:
31	chr6:68149200..68150953-chr6:68151779..68154440,2	K562	blood:
32	chr6:68117073..68119552-chr6:68122982..68124774,2	MCF-7	breast:
33	chr6:68130955..68133450-chr6:68149900..68151602,2	MCF-7	breast:
34	chr6:68148937..68151078-chr6:68174672..68177614,2	K562	blood:
35	chr6:68142298..68144870-chr6:68147425..68149399,2	K562	blood:
36	chr6:68116391..68119187-chr6:68123257..68125394,2	K562	blood:
37	chr6:68155527..68157923-chr6:68158676..68160978,2	K562	blood:
38	chr6:68075451..68077006-chr6:68082097..68085010,2	K562	blood:
39	chr6:68117073..68119552-chr6:68122982..68124774,2	MCF-7	breast:
40	chr6:68148314..68150953-chr6:68152002..68154440,2	K562	blood:
41	chr6:68099897..68102194-chr6:68105769..68107802,2	K562	blood:
42	chr6:68085152..68088022-chr6:68089241..68092194,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAI3-4	chr6:68095844-68095887	XLOC_005337
2	lnc-BAI3-4	chr6:68095954-68096267	XLOC_005337
3	lnc-BAI3-8	chr6:68162493-68162620	NONHSAT113386
4	lnc-BAI3-8	chr6:68172696-68172760	NONHSAT113386
5	lnc-AL713998.1-5	chr6:68166239-68167143	NONHSAT113387
6	lnc-BAI3-8	chr6:68169681-68171236	NONHSAT113386
7	lnc-BAI3-8	chr6:68172396-68172434	NONHSAT113386

Variant related genes	Relation type
ENSG00000271111	TF binding region
RNA5SP208	TF binding region
ENSG00000251965	chromatin interactions
ENSG00000198668	chromatin interactions
ENSG00000271111	chromatin interactions
ENSG00000172888	chromatin interactions
EIF2A	miRNA target sites
LRRFIP1	miRNA target sites

Extended variants
information (count: 1081 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1081 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7765600	chr6:68072138-68072139	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150367375	chr6:68072155-68072156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs372832891	chr6:68072165-68072166	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192506123	chr6:68072182-68072183	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs138054315	chr6:68072228-68072229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184375063	chr6:68072261-68072262	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528367574	chr6:68072265-68072266	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548132866	chr6:68072284-68072285	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189728172	chr6:68072309-68072310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201675898	chr6:68072362-68072363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200398805	chr6:68072367-68072368	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs115896523	chr6:68072437-68072438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550217135	chr6:68072439-68072440	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs143608133	chr6:68072475-68072476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374363412	chr6:68072500-68072501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546561676	chr6:68072528-68072529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567096185	chr6:68072547-68072548	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536136377	chr6:68072566-68072567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs36050045	chr6:68072725-68072726	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147179198	chr6:68072743-68072744	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs538362973	chr6:68072745-68072746	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140393866	chr6:68072749-68072750	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540101114	chr6:68072765-68072766	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370905094	chr6:68072768-68072769	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs113532751	chr6:68072780-68072781	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181139383	chr6:68072794-68072795	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554133590	chr6:68072851-68072852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs573096361	chr6:68072904-68072905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs373939964	chr6:68072930-68072931	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184608034	chr6:68073023-68073024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs540773398	chr6:68073069-68073070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs188879882	chr6:68073135-68073136	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543921611	chr6:68073244-68073245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs34480323	chr6:68073348-68073349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs142728929	chr6:68073371-68073372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181944749	chr6:68073463-68073464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs115526601	chr6:68073464-68073465	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566420613	chr6:68073496-68073497	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs207467114	chr6:68073500-68073501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551756912	chr6:68073511-68073512	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549533133	chr6:68073523-68073524	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549623835	chr6:68073531-68073532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs569487803	chr6:68073548-68073549	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs538475354	chr6:68073558-68073559	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs558361739	chr6:68073601-68073602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571816718	chr6:68073610-68073611	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115962103	chr6:68073630-68073631	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs148394585	chr6:68073638-68073639	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs570376877	chr6:68073672-68073673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs117410381	chr6:68073674-68073675	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68071200-68073800	Active TSS	K562	blood
2	chr6:68073800-68074000	Flanking Active TSS	K562	blood
3	chr6:68094200-68095000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:68108400-68109000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:68112200-68112600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:68112400-68112600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:68120800-68121400	Enhancers	HUVEC	blood vessel
8	chr6:68121000-68121400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:68143200-68143600	Enhancers	K562	blood
10	chr6:68156000-68156600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr6:68159400-68159800	Enhancers	Fetal Heart	heart
12	chr6:68159800-68163000	Weak transcription	Fetal Heart	heart
13	chr6:68163000-68163400	Enhancers	Fetal Heart	heart
14	chr6:68167600-68168600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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