Variant report

Variant	nsv611905
Chromosome Location	chr8:112735588-112791866
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	CEBPB	chr8:112753993-112754235	HepG2	liver:	n/a	n/a
2	CEBPB	chr8:112780227-112780716	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr8:112758400-112758550	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr8:112763178-112763245	MCF-7	breast:	n/a	n/a
5	CTCF	chr8:112763173-112763286	MCF-7	breast:	n/a	n/a
6	CTCF	chr8:112766323-112766344	Medullo	brain:	n/a	n/a
7	CTCF	chr8:112763170-112763228	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:112764130-112764203	GM13976	blood:	n/a	n/a
9	CTCF	chr8:112778726-112778761	GM20000	blood:	n/a	n/a
10	CTCF	chr8:112758360-112758510	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr8:112758360-112758510	HMEC	breast:	n/a	n/a
12	CTCF	chr8:112758403-112758514	MCF-7	breast:	n/a	n/a
13	CTCF	chr8:112758362-112758549	GM12878	blood:	n/a	n/a
14	CTCF	chr8:112758280-112758570	HMEC	breast:	n/a	n/a
15	CTCF	chr8:112758360-112758510	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr8:112758360-112758510	MCF-7	breast:	n/a	n/a
17	CTCF	chr8:112758448-112758501	Gliobla	brain:	n/a	n/a
18	CTCF	chr8:112758420-112758570	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr8:112786560-112786565	GM13976	blood:	n/a	n/a
20	CTCF	chr8:112758407-112758520	HepG2	liver:	n/a	n/a
21	CTCF	chr8:112758400-112758550	GM12878	blood:	n/a	n/a
22	CTCF	chr8:112758462-112758495	LNCaP	prostate:	n/a	n/a
23	CTCF	chr8:112763174-112763284	MCF-7	breast:	n/a	n/a
24	CTCF	chr8:112783440-112783590	GM12869	blood:	n/a	n/a
25	CTCF	chr8:112758222-112758579	MCF-7	breast:	n/a	n/a
26	CTCF	chr8:112758312-112758612	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr8:112786514-112786557	GM13976	blood:	n/a	n/a
28	CTCF	chr8:112758445-112758509	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:112758349-112758614	MCF-7	breast:	n/a	n/a
30	CTCF	chr8:112758440-112758590	MCF-7	breast:	n/a	n/a
31	CTCF	chr8:112763159-112763309	MCF-7	breast:	n/a	n/a
32	E2F4	chr8:112741319-112741391	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr8:112758044-112758148	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr8:112751209-112751406	MCF10A-Er-Src	breast:	n/a	n/a
35	EP300	chr8:112779670-112780889	ECC-1	luminal epithelium:	n/a	chr8:112780088-112780097
36	EP300	chr8:112754513-112754550	GM12878	blood:	n/a	n/a
37	EP300	chr8:112780232-112780807	ECC-1	luminal epithelium:	n/a	n/a
38	EP300	chr8:112751695-112752136	T-47D	breast:	n/a	n/a
39	ESR1	chr8:112751764-112752026	T-47D	breast:	n/a	n/a
40	FOS	chr8:112754372-112754736	MCF10A-Er-Src	breast:	n/a	chr8:112754552-112754563 chr8:112754553-112754563 chr8:112754554-112754563 chr8:112754555-112754566 chr8:112754554-112754561 chr8:112754553-112754563
41	FOS	chr8:112754364-112754739	MCF10A-Er-Src	breast:	n/a	chr8:112754552-112754563 chr8:112754553-112754563 chr8:112754554-112754563 chr8:112754555-112754566 chr8:112754554-112754561 chr8:112754553-112754563
42	FOS	chr8:112754377-112754690	HUVEC	blood vessel:	n/a	chr8:112754552-112754563 chr8:112754553-112754563 chr8:112754554-112754563 chr8:112754555-112754566 chr8:112754554-112754561 chr8:112754553-112754563
43	FOS	chr8:112754407-112754718	MCF10A-Er-Src	breast:	n/a	chr8:112754552-112754563 chr8:112754553-112754563 chr8:112754554-112754563 chr8:112754555-112754566 chr8:112754554-112754561 chr8:112754553-112754563
44	FOS	chr8:112754370-112754944	MCF10A-Er-Src	breast:	n/a	chr8:112754552-112754563 chr8:112754553-112754563 chr8:112754554-112754563 chr8:112754555-112754566 chr8:112754554-112754561 chr8:112754553-112754563
45	FOSL2	chr8:112751247-112751575	MCF-7	breast:	n/a	n/a
46	FOXA1	chr8:112751645-112752155	T-47D	breast:	n/a	chr8:112751931-112751946
47	FOXA1	chr8:112751826-112752043	T-47D	breast:	n/a	chr8:112751931-112751946
48	FOXM1	chr8:112779801-112780891	ECC-1	luminal epithelium:	n/a	n/a
49	FOXM1	chr8:112780033-112780840	ECC-1	luminal epithelium:	n/a	n/a
50	FOXP2	chr8:112780336-112780687	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:112753150..112755193-chr8:112756669..112758806,2	MCF-7	breast:
2	chr8:112765107..112767231-chr8:112771782..112773764,2	K562	blood:
3	chr8:112456214..112456969-chr8:112758072..112758694,3	MCF-7	breast:
4	chr8:112765107..112767231-chr8:112771782..112773764,2	K562	blood:
5	chr8:112753150..112755193-chr8:112756669..112758806,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-67H2.1.1-2	chr8:112757671-112757916	XLOC_006903
2	lnc-RP11-67H2.1.1-2	chr8:112768535-112768629	ENSG00000254262
3	lnc-RP11-67H2.1.1-2	chr8:112754241-112754312	ENSG00000254262
4	lnc-RP11-67H2.1.1-2	chr8:112768739-112770625	XLOC_006903
5	lnc-RP11-67H2.1.1-2	chr8:112768738-112770625	NONHSAT128333
6	lnc-RP11-67H2.1.1-2	chr8:112757671-112757836	XLOC_006903
7	lnc-RP11-67H2.1.1-2	chr8:112757670-112757836	NONHSAT128333
8	lnc-RP11-67H2.1.1-2	chr8:112757671-112757836	ENSG00000254262
9	lnc-RP11-67H2.1.1-2	chr8:112768739-112769213	XLOC_006903
10	lnc-RP11-67H2.1.1-2	chr8:112754207-112754312	XLOC_006903
11	lnc-RP11-67H2.1.1-2	chr8:112754225-112754312	XLOC_006903
12	lnc-RP11-67H2.1.1-2	chr8:112768536-112768629	XLOC_006903
13	lnc-RP11-67H2.1.1-2	chr8:112754224-112754312	NONHSAT128333
14	lnc-RP11-67H2.1.1-2	chr8:112768739-112768861	ENSG00000254262

Variant related genes	Relation type
ENSG00000254262	TF binding region
ENSG00000254262	chromatin interactions
RPRD1A	miRNA target sites

Extended variants
information (count: 1346 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74378855	chr8:112740808-112740809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190619376	chr8:112740818-112740819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10111391	chr8:112740830-112740831	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552962287	chr8:112740835-112740836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181322239	chr8:112740846-112740847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11998070	chr8:112740847-112740848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78379926	chr8:112740911-112740912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575556982	chr8:112740913-112740914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73336321	chr8:112740952-112740953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563839635	chr8:112740965-112740966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573918156	chr8:112741001-112741002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538454732	chr8:112741014-112741015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543030642	chr8:112741024-112741025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559749541	chr8:112741061-112741062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7813372	chr8:112741133-112741134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs190602109	chr8:112741162-112741163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565136573	chr8:112741177-112741178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531041135	chr8:112741180-112741181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550367478	chr8:112741195-112741196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567373213	chr8:112741197-112741198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10955596	chr8:112741199-112741200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs182825702	chr8:112741226-112741227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566513730	chr8:112741324-112741325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371290241	chr8:112741334-112741335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558918689	chr8:112741348-112741349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144148540	chr8:112741350-112741351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7830258	chr8:112741367-112741368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557147434	chr8:112741374-112741375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574084743	chr8:112741410-112741411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201555103	chr8:112741414-112741415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148262556	chr8:112741433-112741434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13280154	chr8:112741522-112741523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs545277271	chr8:112741560-112741561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565274305	chr8:112741570-112741571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143545706	chr8:112741599-112741600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397704255	chr8:112741609-112741610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116765021	chr8:112741612-112741613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142837512	chr8:112741614-112741615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540966693	chr8:112741664-112741665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113458546	chr8:112741687-112741688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185719993	chr8:112741703-112741704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546423977	chr8:112741738-112741739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114801226	chr8:112741743-112741744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538671323	chr8:112741756-112741757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552465797	chr8:112741765-112741766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569196884	chr8:112741775-112741776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564791038	chr8:112747602-112747603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1871407	chr8:112747656-112747657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527381953	chr8:112747688-112747689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535569190	chr8:112747699-112747700	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112740800-112741400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr8:112740800-112741600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:112741000-112741800	Enhancers	Brain Germinal Matrix	brain
4	chr8:112747600-112747800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:112747800-112752200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:112749200-112749400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:112749400-112751400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:112751400-112751600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:112751400-112753400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:112751600-112752400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:112752200-112752600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:112752400-112753200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:112752600-112753000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:112753200-112757600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:112753400-112753600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:112753600-112754000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:112753600-112754000	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr8:112753800-112754800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:112754000-112757200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:112757000-112758200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:112757200-112758000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:112757200-112758200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:112757200-112758200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:112757400-112757800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:112757600-112758200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:112757600-112758400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:112757800-112767000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:112766000-112766400	Enhancers	Fetal Brain Female	brain
29	chr8:112766000-112767000	Enhancers	Fetal Brain Male	brain
30	chr8:112766600-112767000	Enhancers	Fetal Lung	lung
31	chr8:112767000-112767200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:112767800-112768000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:112768000-112778600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:112771000-112771400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:112771000-112771600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:112778600-112778800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:112780000-112780600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:112781200-112782200	Enhancers	Fetal Brain Male	brain

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