Variant report

Variant	nsv969371
Chromosome Location	chr6:29429364-29430560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:427)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:29429897-29429965	Fibrobl	skin:	n/a	n/a
2	STAT3	chr6:29430548-29430731	MCF10A-Er-Src	breast:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29430506-29430556	HMEC	breast:	n/a
2	chr6:29430096-29430146	HNPCEpiC	eye:	n/a
3	chr6:29429346-29429396	GM12892	blood:	n/a
4	chr6:29429346-29429396	Caco-2	colon:	n/a
5	chr6:29430435-29430485	HNPCEpiC	eye:	n/a
6	chr6:29430435-29430485	RPTEC	kidney:	n/a
7	chr6:29430096-29430146	SKMC	muscle:	n/a
8	chr6:29430506-29430556	GM12878	blood:	n/a
9	chr6:29430435-29430485	HL-60	blood:	n/a
10	chr6:29430158-29430208	HIPEpiC	eye:	n/a
11	chr6:29429909-29429959	HMEC	breast:	n/a
12	chr6:29430334-29430384	HCM	heart:	n/a
13	chr6:29430158-29430208	PrEC	prostate:	n/a
14	chr6:29430506-29430556	AG09319	gingival:	n/a
15	chr6:29430506-29430556	Hepatocyte	liver:	n/a
16	chr6:29430096-29430146	HL-60	blood:	n/a
17	chr6:29430158-29430208	HRPEpiC	eye:	n/a
18	chr6:29429346-29429396	SAEC	small airway:	n/a
19	chr6:29430158-29430208	CMK	blood:	n/a
20	chr6:29430435-29430485	PrEC	prostate:	n/a
21	chr6:29430096-29430146	PANC-1	pancreas:	n/a
22	chr6:29430506-29430556	GM12891	blood:	n/a
23	chr6:29430506-29430556	AG09309	skin:	n/a
24	chr6:29430334-29430384	SAEC	small airway:	n/a
25	chr6:29430506-29430556	RPTEC	kidney:	n/a
26	chr6:29430435-29430485	NB4	blood:	n/a
27	chr6:29429909-29429959	ovcar-3	ovarian:	n/a
28	chr6:29430334-29430384	Hela-S3	cervix:	n/a
29	chr6:29429909-29429959	U87	brain:	n/a
30	chr6:29429346-29429396	BJ	skin:	n/a
31	chr6:29429346-29429396	AG04450	lung:	fetal
32	chr6:29429346-29429396	SK-N-SH_RA	brain:	n/a
33	chr6:29430096-29430146	Caco-2	colon:	n/a
34	chr6:29430096-29430146	PFSK-1	brain:	n/a
35	chr6:29430158-29430208	HCM	heart:	n/a
36	chr6:29430334-29430384	HIPEpiC	eye:	n/a
37	chr6:29430158-29430208	SK-N-SH_RA	brain:	n/a
38	chr6:29430506-29430556	A549	lung:	n/a
39	chr6:29429909-29429959	BE2_C	brain:	n/a
40	chr6:29430506-29430556	HIPEpiC	eye:	n/a
41	chr6:29430158-29430208	PANC-1	pancreas:	n/a
42	chr6:29430158-29430208	SK-N-SH	brain:	n/a
43	chr6:29429346-29429396	GM12878	blood:	n/a
44	chr6:29429909-29429959	AG09319	gingival:	n/a
45	chr6:29430158-29430208	BE2_C	brain:	n/a
46	chr6:29429346-29429396	SK-N-MC	brain:	n/a
47	chr6:29430506-29430556	U87	brain:	n/a
48	chr6:29429909-29429959	HRCEpiC	kidney:	n/a
49	chr6:29430334-29430384	ovcar-3	ovarian:	n/a
50	chr6:29430435-29430485	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29430057..29432693-chr6:29447492..29449143,2	K562	blood:

No data

Variant related genes	Relation type
OR11A1	TF binding region
OR11A1	CpG island

Extended variants
information (count: 77 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551705160	chr6:29429367-29429368	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs150248647	chr6:29429370-29429371	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs191865534	chr6:29429391-29429392	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs540557397	chr6:29429426-29429427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181929338	chr6:29429443-29429444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185698664	chr6:29429448-29429449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190453351	chr6:29429456-29429457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373005492	chr6:29429522-29429523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377347918	chr6:29429542-29429543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62408592	chr6:29429549-29429550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182690499	chr6:29429560-29429561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373859744	chr6:29429570-29429571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201730580	chr6:29429587-29429588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147890226	chr6:29429617-29429618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61752584	chr6:29429642-29429643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs201061529	chr6:29429656-29429657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377588663	chr6:29429678-29429679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147026711	chr6:29429688-29429689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138167082	chr6:29429701-29429702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374947503	chr6:29429716-29429717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77072691	chr6:29429717-29429718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61732184	chr6:29429732-29429733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs61732185	chr6:29429733-29429734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs41271553	chr6:29429765-29429766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139316475	chr6:29429785-29429786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538200065	chr6:29429913-29429914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143294075	chr6:29429934-29429935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141663433	chr6:29429955-29429956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147544938	chr6:29429971-29429972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138649397	chr6:29429985-29429986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146176194	chr6:29429992-29429993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139057187	chr6:29429993-29429994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560414269	chr6:29430004-29430005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191175468	chr6:29430024-29430025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182445185	chr6:29430028-29430029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149955021	chr6:29430069-29430070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189150803	chr6:29430097-29430098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144193488	chr6:29430116-29430117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149256872	chr6:29430121-29430122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370239828	chr6:29430124-29430125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541552266	chr6:29430147-29430148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144363872	chr6:29430158-29430159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147827730	chr6:29430159-29430160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141617289	chr6:29430166-29430167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2073148	chr6:29430170-29430171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560700107	chr6:29430198-29430199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193012486	chr6:29430202-29430203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17184086	chr6:29430213-29430214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374994892	chr6:29430218-29430219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368644205	chr6:29430242-29430243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Melanoma	17363583	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29429200-29429400	Enhancers	Stomach Mucosa	stomach
2	chr6:29429200-29430000	Enhancers	Pancreas	Pancrea
3	chr6:29430000-29436600	Weak transcription	Pancreas	Pancrea

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