Variant report

Variant	nsv433251
Chromosome Location	chr8:112400841-112455664
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	ARID3A	chr8:112449828-112449990	HepG2	liver:	n/a	n/a
2	CEBPB	chr8:112408330-112408661	Hela-S3	cervix:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
3	CEBPB	chr8:112404299-112404642	HepG2	liver:	n/a	chr8:112404467-112404478
4	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
5	CEBPB	chr8:112404307-112404637	IMR90	lung:	n/a	chr8:112404467-112404478
6	CEBPB	chr8:112404307-112404589	A549	lung:	n/a	chr8:112404467-112404478
7	CEBPB	chr8:112408291-112408670	IMR90	lung:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
8	CEBPB	chr8:112404357-112404500	K562	blood:	n/a	chr8:112404467-112404478
9	CEBPB	chr8:112408299-112408622	A549	lung:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
10	CEBPB	chr8:112408306-112408655	HepG2	liver:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
11	CEBPB	chr8:112408310-112408678	K562	blood:	n/a	chr8:112408484-112408497 chr8:112408486-112408495 chr8:112408485-112408496 chr8:112408486-112408495 chr8:112408486-112408495
12	CTCF	chr8:112437580-112437730	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr8:112439400-112439550	RPTEC	kidney:	n/a	chr8:112439500-112439518 chr8:112439504-112439511 chr8:112439502-112439523 chr8:112439501-112439517
14	CTCF	chr8:112428430-112428626	LNCaP	prostate:	n/a	n/a
15	CTCF	chr8:112428440-112428590	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr8:112437766-112437942	K562	blood:	n/a	n/a
17	CTCF	chr8:112428477-112428771	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:112428495-112428620	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr8:112439340-112439490	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr8:112439420-112439570	RPTEC	kidney:	n/a	chr8:112439500-112439518 chr8:112439504-112439511 chr8:112439502-112439523 chr8:112439501-112439517
21	CTCF	chr8:112428417-112428656	MCF-7	breast:	n/a	n/a
22	CTCF	chr8:112439600-112439750	HCT-116	colon:	n/a	n/a
23	CTCF	chr8:112439360-112439510	HEK293	kidney:	n/a	n/a
24	CTCF	chr8:112437720-112437870	HCFaa	heart:	n/a	n/a
25	CTCF	chr8:112439040-112439190	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr8:112439400-112439550	HRPEpiC	eye:	n/a	chr8:112439500-112439518 chr8:112439504-112439511 chr8:112439502-112439523 chr8:112439501-112439517
27	CTCF	chr8:112439480-112439630	GM12864	blood:	n/a	chr8:112439500-112439518 chr8:112439504-112439511 chr8:112439502-112439523 chr8:112439501-112439517
28	CTCF	chr8:112428420-112428570	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr8:112428466-112428556	GM10266	blood:	n/a	n/a
30	CTCF	chr8:112428480-112428630	GM12866	blood:	n/a	n/a
31	CTCF	chr8:112437751-112437953	GM13977	blood:	n/a	n/a
32	CTCF	chr8:112439437-112439531	GM12878	blood:	n/a	chr8:112439500-112439518 chr8:112439504-112439511 chr8:112439502-112439523 chr8:112439501-112439517
33	CTCF	chr8:112437803-112437925	GM13976	blood:	n/a	n/a
34	CTCF	chr8:112437800-112437950	GM12875	blood:	n/a	n/a
35	CTCF	chr8:112437780-112437930	GM12870	blood:	n/a	n/a
36	CTCF	chr8:112439400-112439550	GM12865	blood:	n/a	chr8:112439500-112439518 chr8:112439504-112439511 chr8:112439502-112439523 chr8:112439501-112439517
37	CTCF	chr8:112437780-112437930	GM12871	blood:	n/a	n/a
38	CTCF	chr8:112437800-112437950	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr8:112439360-112439510	HMEC	breast:	n/a	n/a
40	CTCF	chr8:112437740-112437890	GM12874	blood:	n/a	n/a
41	CTCF	chr8:112428480-112428630	BE2_C	brain:	n/a	n/a
42	CTCF	chr8:112437600-112437750	HCT-116	colon:	n/a	n/a
43	CTCF	chr8:112439340-112439490	HMF	breast:	n/a	n/a
44	CTCF	chr8:112437600-112437750	GM12871	blood:	n/a	n/a
45	CTCF	chr8:112437702-112437929	HepG2	liver:	n/a	n/a
46	CTCF	chr8:112437580-112437730	GM12878	blood:	n/a	n/a
47	CTCF	chr8:112428420-112428570	HCT-116	colon:	n/a	n/a
48	CTCF	chr8:112428492-112428601	A549	lung:	n/a	n/a
49	CTCF	chr8:112437804-112437926	GM10248	blood:	n/a	n/a
50	CTCF	chr8:112437480-112437630	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:112427186..112429388-chr8:112430940..112432715,2	K562	blood:
2	chr8:112439221..112439930-chr8:112809136..112809948,2	MCF-7	breast:
3	chr8:112437770..112438280-chr8:112809131..112809707,2	MCF-7	breast:
4	chr8:112438643..112439991-chr8:112809151..112809703,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-422N16.3.1-4	chr8:112428744-112428771	ENSG00000253434.1

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

Extended variants
information (count: 662 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185573336	chr8:112409822-112409823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190299592	chr8:112409832-112409833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532856769	chr8:112409867-112409868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1346654	chr8:112409868-112409869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563295902	chr8:112409928-112409929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529202187	chr8:112409952-112409953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548975878	chr8:112409970-112409971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114688850	chr8:112409974-112409975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527721243	chr8:112410013-112410014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547802392	chr8:112410015-112410016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571003985	chr8:112410034-112410035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539501083	chr8:112410075-112410076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148663527	chr8:112410106-112410107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192784867	chr8:112410127-112410128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536169194	chr8:112410150-112410151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533233803	chr8:112410170-112410171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143311719	chr8:112410215-112410216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572392791	chr8:112410220-112410221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540668017	chr8:112410292-112410293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557330269	chr8:112410301-112410302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538940924	chr8:112410309-112410310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543112925	chr8:112410335-112410336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115507232	chr8:112410371-112410372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529102636	chr8:112410478-112410479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542791182	chr8:112410486-112410487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140248761	chr8:112410523-112410524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144001195	chr8:112410567-112410568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9656888	chr8:112410638-112410639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564432899	chr8:112410653-112410654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76388413	chr8:112410673-112410674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184317617	chr8:112410720-112410721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570114012	chr8:112410764-112410765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551158112	chr8:112410845-112410846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535706731	chr8:112410849-112410850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549158666	chr8:112410907-112410908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565901189	chr8:112410987-112410988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75351309	chr8:112410994-112410995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541178661	chr8:112423413-112423414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564224928	chr8:112423441-112423442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533250151	chr8:112423452-112423453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35660218	chr8:112423454-112423455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397770184	chr8:112423455-112423456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572914211	chr8:112423472-112423473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552642038	chr8:112423494-112423495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562851703	chr8:112423519-112423520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192934031	chr8:112423538-112423539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3054261	chr8:112423541-112423542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548718830	chr8:112423558-112423559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62520655	chr8:112423575-112423576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114527956	chr8:112423579-112423580	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112409800-112410200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:112409800-112410600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:112410000-112410800	Enhancers	Fetal Heart	heart
4	chr8:112410000-112411000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:112410200-112410600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:112410200-112410600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:112410200-112410600	Enhancers	Pancreas	Pancrea
8	chr8:112410200-112410800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:112410200-112410800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:112410200-112410800	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:112423400-112423800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:112423400-112423800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:112423400-112424000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:112423400-112424000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:112423600-112423800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:112423600-112424000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:112423600-112424000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:112423800-112428200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:112424000-112428200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:112424000-112428200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:112424000-112428200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:112428200-112428400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:112428200-112428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:112428200-112428800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:112428200-112428800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:112428200-112428800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:112428200-112429000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr8:112428400-112428600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr8:112428400-112428800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr8:112428600-112428800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:112428600-112428800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr8:112428600-112428800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:112440800-112441000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr8:112440800-112441800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr8:112441400-112442000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr8:112442000-112442200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:112447400-112448800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:112447600-112448600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:112448200-112448800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:112448600-112465600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:112450200-112451200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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