Variant report

Variant	nsv969302
Chromosome Location	chr6:49767553-49782099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:49774694-49775119	K562	blood:	n/a	n/a
2	CEBPB	chr6:49767726-49767798	K562	blood:	n/a	chr6:49767748-49767761
3	CEBPB	chr6:49781078-49781274	K562	blood:	n/a	n/a
4	CTCF	chr6:49770320-49770470	NHEK	skin:	n/a	n/a
5	CTCF	chr6:49770107-49770213	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:49770160-49770310	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:49770120-49770270	HEK293	kidney:	n/a	n/a
8	CTCF	chr6:49770060-49770210	NHEK	skin:	n/a	n/a
9	CTCF	chr6:49770100-49770250	GM12872	blood:	n/a	n/a
10	CTCF	chr6:49770120-49770218	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr6:49770100-49770250	HepG2	liver:	n/a	n/a
12	CTCF	chr6:49770080-49770230	GM12872	blood:	n/a	n/a
13	CTCF	chr6:49778208-49778313	Lung_OC	lung:	n/a	n/a
14	CTCF	chr6:49769006-49769007	MCF-7	breast:	n/a	n/a
15	FOXA1	chr6:49770088-49770468	HepG2	liver:	n/a	n/a
16	JUN	chr6:49767902-49767928	HepG2	liver:	n/a	n/a
17	KAP1	chr6:49769686-49769857	K562	blood:	n/a	n/a
18	KAP1	chr6:49774843-49775170	K562	blood:	n/a	n/a
19	MAFF	chr6:49781082-49781342	K562	blood:	n/a	n/a
20	MAFK	chr6:49781028-49781307	K562	blood:	n/a	n/a
21	POLR2A	chr6:49770320-49770346	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:49769233-49769325	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr6:49779566-49779579	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:49602379..49604164-chr6:49769811..49771927,2	K562	blood:
2	chr6:49780866..49783240-chr6:49785273..49787244,2	K562	blood:
3	chr6:49780840..49782366-chr6:49785273..49786896,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235122	TF binding region

Extended variants
information (count: 615 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:615 , 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	rs584747	chr6:49767590-49767591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545191177	chr6:49767616-49767617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563299626	chr6:49767629-49767630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530541911	chr6:49767691-49767692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542293381	chr6:49767693-49767694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140655826	chr6:49767705-49767706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376384654	chr6:49767756-49767757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528066469	chr6:49767786-49767787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114696317	chr6:49767804-49767805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6919158	chr6:49767818-49767819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184429256	chr6:49767846-49767847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145011949	chr6:49767854-49767855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189191938	chr6:49767920-49767921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551965070	chr6:49767980-49767981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142228315	chr6:49767998-49767999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547589988	chr6:49768001-49768002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570237126	chr6:49768067-49768068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566982292	chr6:49768132-49768133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146634287	chr6:49768218-49768219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555883815	chr6:49768231-49768232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557390722	chr6:49768257-49768258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567704331	chr6:49768281-49768282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535014966	chr6:49768301-49768302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34317273	chr6:49768320-49768321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575969221	chr6:49768369-49768370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553045976	chr6:49768460-49768461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577879511	chr6:49768476-49768477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544946221	chr6:49768478-49768479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557147906	chr6:49768494-49768495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113183992	chr6:49768538-49768539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542353092	chr6:49768583-49768584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560644633	chr6:49768604-49768605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528126704	chr6:49768605-49768606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374557258	chr6:49768622-49768623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192643077	chr6:49768675-49768676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184261211	chr6:49768759-49768760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564689622	chr6:49768866-49768867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533704202	chr6:49768879-49768880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551768885	chr6:49768949-49768950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570298049	chr6:49768956-49768957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531120973	chr6:49768967-49768968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549547578	chr6:49768968-49768969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567765946	chr6:49769059-49769060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534768688	chr6:49769071-49769072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189125395	chr6:49769090-49769091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571528121	chr6:49769096-49769097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531449724	chr6:49769101-49769102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181247858	chr6:49769188-49769189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77322476	chr6:49769229-49769230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556827325	chr6:49769235-49769236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49755200-49771400	Weak transcription	Fetal Intestine Large	intestine
2	chr6:49765200-49775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:49770200-49772600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:49771400-49774200	Strong transcription	Fetal Intestine Large	intestine
5	chr6:49772600-49774200	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr6:49774200-49775000	Weak transcription	Fetal Intestine Small	intestine
7	chr6:49774200-49782600	Weak transcription	Fetal Intestine Large	intestine
8	chr6:49781200-49781400	Enhancers	Pancreas	Pancrea
9	chr6:49781800-49782400	Weak transcription	Pancreas	Pancrea

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