Variant report

Variant	nsv891333
Chromosome Location	chr8:114552521-114643852
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	chr8:114602201-114602508	K562	blood:	n/a	n/a
2	ATF2	chr8:114616410-114616887	GM12878	blood:	n/a	n/a
3	BACH1	chr8:114627036-114627067	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr8:114557470-114557830	GM12878	blood:	n/a	n/a
5	BATF	chr8:114628233-114628445	GM12878	blood:	n/a	chr8:114628409-114628418
6	BATF	chr8:114558289-114558602	GM12878	blood:	n/a	chr8:114558418-114558429
7	BATF	chr8:114616476-114616789	GM12878	blood:	n/a	chr8:114616655-114616666
8	BATF	chr8:114616421-114616811	GM12878	blood:	n/a	chr8:114616655-114616666
9	BCL11A	chr8:114628249-114628426	GM12878	blood:	n/a	n/a
10	BCL11A	chr8:114557482-114557775	GM12878	blood:	n/a	chr8:114557526-114557535
11	BCL11A	chr8:114628223-114628450	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:114558218-114558592	GM12878	blood:	n/a	n/a
13	BCL11A	chr8:114616465-114616808	GM12878	blood:	n/a	n/a
14	BCL11A	chr8:114557538-114557718	GM12878	blood:	n/a	n/a
15	BCL3	chr8:114616534-114616768	GM12878	blood:	n/a	n/a
16	BHLHE40	chr8:114628196-114628460	GM12878	blood:	n/a	n/a
17	BHLHE40	chr8:114632674-114632863	GM12878	blood:	n/a	n/a
18	CEBPB	chr8:114596850-114597177	HepG2	liver:	n/a	chr8:114597009-114597018 chr8:114597009-114597018 chr8:114597008-114597019
19	CEBPB	chr8:114596875-114597158	IMR90	lung:	n/a	chr8:114597009-114597018 chr8:114597009-114597018 chr8:114597008-114597019
20	CEBPB	chr8:114596859-114597169	A549	lung:	n/a	chr8:114597009-114597018 chr8:114597009-114597018 chr8:114597008-114597019
21	CEBPB	chr8:114577900-114578032	A549	lung:	n/a	n/a
22	CEBPB	chr8:114628238-114628438	A549	lung:	n/a	n/a
23	CHD2	chr8:114628229-114628444	GM12878	blood:	n/a	n/a
24	CTCF	chr8:114598691-114598739	MCF-7	breast:	n/a	n/a
25	CUX1	chr8:114605184-114605542	GM12878	blood:	n/a	n/a
26	CUX1	chr8:114564983-114565054	GM12878	blood:	n/a	n/a
27	CUX1	chr8:114628250-114628502	GM12878	blood:	n/a	n/a
28	E2F4	chr8:114605925-114605990	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr8:114582852-114582947	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr8:114593050-114593250	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr8:114573368-114573563	MCF10A-Er-Src	breast:	n/a	chr8:114573514-114573523
32	E2F4	chr8:114632169-114632401	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr8:114632905-114633280	MCF10A-Er-Src	breast:	n/a	n/a
34	EBF1	chr8:114557538-114557795	GM12878	blood:	n/a	chr8:114557674-114557685
35	EBF1	chr8:114558296-114558566	GM12878	blood:	n/a	n/a
36	EBF1	chr8:114628155-114628480	GM12878	blood:	n/a	n/a
37	EBF1	chr8:114632618-114633098	GM12878	blood:	n/a	chr8:114632870-114632881
38	EBF1	chr8:114627740-114627756	GM12878	blood:	n/a	n/a
39	EBF1	chr8:114616380-114616852	GM12878	blood:	n/a	chr8:114616668-114616679
40	EP300	chr8:114627582-114628511	GM12878	blood:	n/a	n/a
41	EP300	chr8:114632645-114632975	GM12878	blood:	n/a	n/a
42	EP300	chr8:114562804-114562878	K562	blood:	n/a	n/a
43	EP300	chr8:114627507-114628578	GM12878	blood:	n/a	n/a
44	EP300	chr8:114585534-114585726	GM12878	blood:	n/a	n/a
45	EP300	chr8:114557337-114557739	GM12878	blood:	n/a	chr8:114557521-114557535 chr8:114557601-114557610 chr8:114557600-114557614
46	EP300	chr8:114616456-114616823	GM12878	blood:	n/a	n/a
47	EP300	chr8:114616503-114616804	GM12878	blood:	n/a	n/a
48	EP300	chr8:114628217-114628477	GM12878	blood:	n/a	n/a
49	EP300	chr8:114558331-114558488	GM12878	blood:	n/a	n/a
50	EP300	chr8:114558210-114558887	GM12878	blood:	n/a	chr8:114558844-114558853 chr8:114558845-114558854

No.	Distal block	Cell Line	Cell type
1	chr8:114612946..114615304-chr8:114616262..114619018,2	K562	blood:
2	chr8:114612946..114615304-chr8:114616262..114619018,2	K562	blood:
3	chr7:150045798..150047502-chr8:114590956..114592459,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253207	TF binding region

Extended variants
information (count: 657 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:657 , 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	rs571677370	chr8:114555205-114555206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112000783	chr8:114555242-114555243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530707406	chr8:114555312-114555313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537168468	chr8:114555323-114555324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141942023	chr8:114555338-114555339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115642467	chr8:114555474-114555475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536289471	chr8:114555483-114555484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536988876	chr8:114555522-114555523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12680782	chr8:114555573-114555574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573057442	chr8:114555598-114555599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113670309	chr8:114555624-114555625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558489759	chr8:114555627-114555628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575272982	chr8:114555650-114555651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544307103	chr8:114555669-114555670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561005808	chr8:114555798-114555799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574481175	chr8:114555813-114555814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542067629	chr8:114555847-114555848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145653704	chr8:114555880-114555881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559953216	chr8:114555881-114555882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528794749	chr8:114555901-114555902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551922116	chr8:114555973-114555974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183027967	chr8:114556005-114556006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565312837	chr8:114556008-114556009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531045639	chr8:114556090-114556091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186988795	chr8:114556118-114556119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567469757	chr8:114556143-114556144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529993689	chr8:114556154-114556155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562037290	chr8:114556166-114556167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544000871	chr8:114556286-114556287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546598904	chr8:114556304-114556305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368155512	chr8:114556313-114556314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12541897	chr8:114556364-114556365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372866288	chr8:114556385-114556386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538579339	chr8:114556398-114556399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558845435	chr8:114556423-114556424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568948184	chr8:114556432-114556433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138316992	chr8:114556451-114556452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs16884823	chr8:114556487-114556488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570797639	chr8:114556518-114556519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574591840	chr8:114556547-114556548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77689086	chr8:114556551-114556552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533188631	chr8:114556554-114556555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540198422	chr8:114556563-114556564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149590934	chr8:114556578-114556579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190107472	chr8:114556597-114556598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549159358	chr8:114569843-114569844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188435764	chr8:114569844-114569845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528432287	chr8:114569890-114569891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551381398	chr8:114569953-114569954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189993513	chr8:114569958-114569959	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114555200-114556200	Enhancers	Fetal Brain Male	brain
2	chr8:114556200-114556600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:114569800-114570200	Enhancers	Fetal Brain Male	brain
4	chr8:114569800-114570600	Enhancers	Dnd41	blood
5	chr8:114571400-114571800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:114599400-114607400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:114605400-114605800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:114613800-114614400	Enhancers	Brain Hippocampus Middle	brain
9	chr8:114613800-114614400	Enhancers	Brain Substantia Nigra	brain
10	chr8:114614000-114614400	Enhancers	Brain Anterior Caudate	brain
11	chr8:114614000-114614400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr8:114614200-114615000	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:114614400-114615400	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:114615600-114615800	Enhancers	Brain Hippocampus Middle	brain
15	chr8:114615600-114616000	Enhancers	Dnd41	blood
16	chr8:114630000-114630400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:114631600-114632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:114632000-114632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:114632400-114633600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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