Variant report

Variant	nsv523119
Chromosome Location	chr6:29179237-29184660
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	chr6:29182043-29182319	HepG2	liver:	n/a	n/a
2	CTCF	chr6:29180493-29180559	K562	blood:	n/a	n/a
3	CTCF	chr6:29180483-29180574	HepG2	liver:	n/a	n/a
4	CTCF	chr6:29180497-29180563	K562	blood:	n/a	n/a
5	CTCF	chr6:29180476-29180547	GM12878	blood:	n/a	n/a
6	CTCF	chr6:29180440-29180621	HepG2	liver:	n/a	n/a
7	FOXA1	chr6:29184299-29184688	HepG2	liver:	n/a	n/a
8	FOXA1	chr6:29184338-29184684	HepG2	liver:	n/a	n/a
9	FOXA1	chr6:29184208-29184626	HepG2	liver:	n/a	n/a
10	FOXA2	chr6:29184285-29184645	HepG2	liver:	n/a	n/a
11	HDAC2	chr6:29184333-29184611	HepG2	liver:	n/a	n/a
12	HNF4A	chr6:29184258-29184627	HepG2	liver:	n/a	chr6:29184506-29184518 chr6:29184504-29184519 chr6:29184506-29184519 chr6:29184506-29184518 chr6:29184505-29184520 chr6:29184511-29184519
13	HNF4A	chr6:29184313-29184651	HepG2	liver:	n/a	chr6:29184506-29184518 chr6:29184504-29184519 chr6:29184506-29184519 chr6:29184506-29184518 chr6:29184505-29184520 chr6:29184511-29184519
14	HNF4A	chr6:29184326-29184677	HepG2	liver:	n/a	chr6:29184506-29184518 chr6:29184504-29184519 chr6:29184506-29184519 chr6:29184506-29184518 chr6:29184505-29184520 chr6:29184511-29184519
15	HNF4G	chr6:29184303-29184633	HepG2	liver:	n/a	chr6:29184503-29184518 chr6:29184506-29184518 chr6:29184506-29184519 chr6:29184506-29184518 chr6:29184505-29184520 chr6:29184511-29184519
16	HNF4G	chr6:29184256-29184787	HepG2	liver:	n/a	chr6:29184503-29184518 chr6:29184506-29184518 chr6:29184506-29184519 chr6:29184506-29184518 chr6:29184505-29184520 chr6:29184511-29184519
17	JUN	chr6:29181809-29182095	HepG2	liver:	n/a	chr6:29181929-29181942
18	JUND	chr6:29181815-29182076	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:29180489-29180529	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:29183961-29183992	MCF10A-Er-Src	breast:	n/a	n/a
21	RAD21	chr6:29180399-29180778	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr6:29180396-29180640	HepG2	liver:	n/a	n/a
23	RAD21	chr6:29180418-29180690	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr6:29180435-29180601	HepG2	liver:	n/a	n/a
25	RUNX3	chr6:29179250-29179553	GM12878	blood:	n/a	n/a
26	ZNF263	chr6:29183690-29184051	HEK293-T-REx	kidney:	n/a	chr6:29183885-29183906

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29056826..29059190-chr6:29178889..29180975,2	K562	blood:
2	chr6:29183742..29186184-chr6:29187800..29190258,2	K562	blood:

Variant related genes	Relation type
OR2H4P	TF binding region

Extended variants
information (count: 143 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3130817	chr6:29179237-29179238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555244879	chr6:29179306-29179307	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs545666435	chr6:29179321-29179322	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs562359719	chr6:29179365-29179366	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532728886	chr6:29179386-29179387	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369246588	chr6:29179387-29179388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs373394795	chr6:29179474-29179475	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs367924646	chr6:29179512-29179513	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs550667171	chr6:29179545-29179546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs3116833	chr6:29179553-29179554	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs3116834	chr6:29179557-29179558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs546661009	chr6:29179652-29179653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567180197	chr6:29179695-29179696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9257615	chr6:29179801-29179802	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552868597	chr6:29179809-29179810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372431471	chr6:29179906-29179907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538393828	chr6:29179933-29179934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147383468	chr6:29179985-29179986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574433517	chr6:29179997-29179998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533813631	chr6:29179998-29179999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553510636	chr6:29180058-29180059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139598127	chr6:29180062-29180063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376723188	chr6:29180173-29180174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562398957	chr6:29180175-29180176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143329666	chr6:29180283-29180284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3129095	chr6:29180285-29180286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529779553	chr6:29180301-29180302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368249486	chr6:29180302-29180303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181004302	chr6:29180304-29180305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3116835	chr6:29180312-29180313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3116836	chr6:29180314-29180315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs28595199	chr6:29180320-29180321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11752409	chr6:29180374-29180375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143608025	chr6:29180375-29180376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530605034	chr6:29180517-29180518	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs369284650	chr6:29180531-29180532	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs185024513	chr6:29180557-29180558	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs147205464	chr6:29180627-29180628	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs570746212	chr6:29180644-29180645	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs9257616	chr6:29180721-29180722	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
41	rs538475457	chr6:29180830-29180831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547781464	chr6:29180955-29180956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548473850	chr6:29181017-29181018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148688616	chr6:29181026-29181027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533667642	chr6:29181028-29181029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79335073	chr6:29181032-29181033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59925882	chr6:29181099-29181100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535182466	chr6:29181100-29181101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539046148	chr6:29181225-29181226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs41317771	chr6:29181302-29181303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29170800-29185400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:29179800-29180200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:29180200-29180600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:29180600-29180800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:29180800-29189600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:29183600-29186200	Enhancers	Liver	Liver
7	chr6:29183600-29186200	Enhancers	HepG2	liver
8	chr6:29184000-29184600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:29184400-29185000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:29184400-29185000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:29184400-29185000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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