Variant report

Variant	nsv984551
Chromosome Location	chr8:112391116-112436694
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	chr8:112408330-112408661	Hela-S3	cervix:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
2	CEBPB	chr8:112404307-112404589	A549	lung:	n/a	chr8:112404467-112404478
3	CEBPB	chr8:112408306-112408655	HepG2	liver:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
4	CEBPB	chr8:112408299-112408622	A549	lung:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
5	CEBPB	chr8:112408291-112408670	IMR90	lung:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
6	CEBPB	chr8:112408310-112408678	K562	blood:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
7	CEBPB	chr8:112408312-112408657	H1-hESC	embryonic stem cell:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
8	CEBPB	chr8:112404299-112404642	HepG2	liver:	n/a	chr8:112404467-112404478
9	CEBPB	chr8:112396842-112396953	HepG2	liver:	n/a	chr8:112396875-112396886
10	CEBPB	chr8:112404307-112404637	IMR90	lung:	n/a	chr8:112404467-112404478
11	CEBPB	chr8:112404357-112404500	K562	blood:	n/a	chr8:112404467-112404478
12	CTCF	chr8:112428400-112428550	GM12875	blood:	n/a	n/a
13	CTCF	chr8:112428334-112428693	GM12878	blood:	n/a	n/a
14	CTCF	chr8:112428460-112428610	HRE	kidney:	n/a	n/a
15	CTCF	chr8:112428340-112428685	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr8:112428440-112428590	RPTEC	kidney:	n/a	n/a
17	CTCF	chr8:112428492-112428601	A549	lung:	n/a	n/a
18	CTCF	chr8:112428794-112428826	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr8:112428200-112428350	GM12872	blood:	n/a	n/a
20	CTCF	chr8:112428440-112428590	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr8:112428460-112428610	NB4	blood:	n/a	n/a
22	CTCF	chr8:112428440-112428590	GM12865	blood:	n/a	n/a
23	CTCF	chr8:112428440-112428590	HMEC	breast:	n/a	n/a
24	CTCF	chr8:112426138-112426147	IMR90	lung:	n/a	n/a
25	CTCF	chr8:112428460-112428610	GM12873	blood:	n/a	n/a
26	CTCF	chr8:112428600-112428750	GM12870	blood:	n/a	n/a
27	CTCF	chr8:112428460-112428592	HepG2	liver:	n/a	n/a
28	CTCF	chr8:112428440-112428590	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr8:112428440-112428590	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr8:112428440-112428590	GM12878	blood:	n/a	n/a
31	CTCF	chr8:112428417-112428656	MCF-7	breast:	n/a	n/a
32	CTCF	chr8:112428481-112428620	MCF-7	breast:	n/a	n/a
33	CTCF	chr8:112428495-112428591	K562	blood:	n/a	n/a
34	CTCF	chr8:112428500-112428650	HMEC	breast:	n/a	n/a
35	CTCF	chr8:112428420-112428570	HCT-116	colon:	n/a	n/a
36	CTCF	chr8:112428460-112428610	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr8:112428477-112428771	MCF-7	breast:	n/a	n/a
38	CTCF	chr8:112428460-112428610	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr8:112428460-112428610	GM12864	blood:	n/a	n/a
40	CTCF	chr8:112436602-112436658	LNCaP	prostate:	n/a	n/a
41	CTCF	chr8:112428480-112428630	GM12866	blood:	n/a	n/a
42	CTCF	chr8:112428441-112428593	LNCaP	prostate:	n/a	n/a
43	CTCF	chr8:112428471-112428599	GM12878	blood:	n/a	n/a
44	CTCF	chr8:112428420-112428570	HL-60	blood:	n/a	n/a
45	CTCF	chr8:112428501-112428585	GM12892	blood:	n/a	n/a
46	CTCF	chr8:112428440-112428590	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr8:112428480-112428630	GM12865	blood:	n/a	n/a
48	CTCF	chr8:112428480-112428630	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr8:112428419-112428587	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr8:112428680-112428830	HEEpiC	esophagus:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:112427186..112429388-chr8:112430940..112432715,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-422N16.3.1-4	chr8:112392832-112393097	NONHSAT128327
2	lnc-RP11-422N16.3.1-4	chr8:112392702-112392921	ENSG00000253434.1
3	lnc-RP11-422N16.3.1-4	chr8:112399907-112399971	ENSG00000253434.1
4	lnc-RP11-422N16.3.1-4	chr8:112428744-112428771	ENSG00000253434.1

Variant related genes	Relation type
ENSG00000253434	TF binding region
ENSG00000255033	TF binding region
ENSG00000253434	chromatin interactions

Extended variants
information (count: 605 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530181135	chr8:112391187-112391188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183207734	chr8:112391211-112391212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187375877	chr8:112391229-112391230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532568931	chr8:112391248-112391249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141624952	chr8:112391301-112391302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113648442	chr8:112391363-112391364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150699781	chr8:112391424-112391425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538527160	chr8:112391433-112391434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62520634	chr8:112391434-112391435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192558236	chr8:112391439-112391440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548489798	chr8:112391443-112391444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4876603	chr8:112391681-112391682	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553555366	chr8:112391688-112391689	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576993822	chr8:112391762-112391763	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs539285285	chr8:112391769-112391770	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs185437713	chr8:112391792-112391793	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs556310695	chr8:112391798-112391799	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs190538486	chr8:112391848-112391849	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs541720128	chr8:112391853-112391854	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560949855	chr8:112391870-112391871	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62520635	chr8:112391893-112391894	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540742997	chr8:112391964-112391965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531141864	chr8:112392049-112392050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552662948	chr8:112392056-112392057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560409684	chr8:112392059-112392060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544541482	chr8:112392065-112392066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570828613	chr8:112392066-112392067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374384126	chr8:112392081-112392082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564722719	chr8:112392094-112392095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532621425	chr8:112392118-112392119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77100771	chr8:112392154-112392155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552535723	chr8:112392157-112392158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533316579	chr8:112392315-112392316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192452009	chr8:112392449-112392450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57362637	chr8:112392509-112392510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548856476	chr8:112392513-112392514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568076462	chr8:112392527-112392528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533744393	chr8:112392539-112392540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547350822	chr8:112392581-112392582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377166037	chr8:112392651-112392652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139027124	chr8:112392652-112392653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539512326	chr8:112392658-112392659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556131676	chr8:112392688-112392689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546684089	chr8:112392732-112392733	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs575786375	chr8:112392746-112392747	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs369978139	chr8:112392762-112392763	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs184428908	chr8:112392766-112392767	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs571986488	chr8:112392806-112392807	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs61742370	chr8:112392829-112392830	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs61742374	chr8:112392858-112392859	Weak transcription Enhancers	lncRNA	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112387600-112392400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:112387800-112399600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:112390800-112392400	Weak transcription	Adipose Nuclei	Adipose
4	chr8:112390800-112392600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:112392400-112392600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:112392400-112393000	Enhancers	Adipose Nuclei	Adipose
7	chr8:112392600-112393200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:112397400-112397600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:112397400-112397600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:112397400-112397600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
11	chr8:112397400-112397600	ZNF genes & repeats	Esophagus	oesophagus
12	chr8:112397400-112397600	ZNF genes & repeats	Gastric	stomach
13	chr8:112397400-112397600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
14	chr8:112397400-112397600	Enhancers	Lung	lung
15	chr8:112397400-112397600	ZNF genes & repeats	Pancreas	Pancrea
16	chr8:112397400-112397600	Enhancers	Right Atrium	heart
17	chr8:112397600-112399600	Weak transcription	Pancreas	Pancrea
18	chr8:112399200-112399400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:112399400-112399600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:112399600-112399800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:112399600-112399800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:112399600-112399800	Enhancers	Pancreas	Pancrea
23	chr8:112409800-112410200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:112409800-112410600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:112410000-112410800	Enhancers	Fetal Heart	heart
26	chr8:112410000-112411000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:112410200-112410600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:112410200-112410600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:112410200-112410600	Enhancers	Pancreas	Pancrea
30	chr8:112410200-112410800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:112410200-112410800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:112410200-112410800	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:112423400-112423800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:112423400-112423800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:112423400-112424000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr8:112423400-112424000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:112423600-112423800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:112423600-112424000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:112423600-112424000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr8:112423800-112428200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:112424000-112428200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:112424000-112428200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:112424000-112428200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:112428200-112428400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:112428200-112428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:112428200-112428800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:112428200-112428800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:112428200-112428800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:112428200-112429000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr8:112428400-112428600	Active TSS	HUES6 Cell Line	embryonic stem cell

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