Variant report

Variant	nsv981125
Chromosome Location	chr6:29456623-29457966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr6:29457892-29458925	K562	blood:	n/a	chr6:29458615-29458631 chr6:29458615-29458631 chr6:29458067-29458076 chr6:29458620-29458637 chr6:29458618-29458628 chr6:29458502-29458509 chr6:29458502-29458509 chr6:29458502-29458509 chr6:29458501-29458511
2	TEAD4	chr6:29457925-29458971	K562	blood:	n/a	n/a
3	ZNF274	chr6:29457463-29457808	K562	blood:	n/a	n/a
4	ZNF274	chr6:29456608-29456979	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29457094-29457144	GM19239	blood:	n/a
2	chr6:29457282-29457332	NHDF-neo	bronchial:	n/a
3	chr6:29456611-29456661	AG04450	lung:	fetal
4	chr6:29456577-29456627	HCT-116	colon:	n/a
5	chr6:29457282-29457332	PrEC	prostate:	n/a
6	chr6:29456577-29456627	Hepatocyte	liver:	n/a
7	chr6:29457282-29457332	HEEpiC	esophagus:	n/a
8	chr6:29456611-29456661	AG09319	gingival:	n/a
9	chr6:29456577-29456627	AoSMC	blood vessel:	n/a
10	chr6:29456611-29456661	SK-N-SH_RA	brain:	n/a
11	chr6:29457282-29457332	HMEC	breast:	n/a
12	chr6:29457282-29457332	Hepatocyte	liver:	n/a
13	chr6:29456611-29456661	GM19239	blood:	n/a
14	chr6:29457094-29457144	Hela-S3	cervix:	n/a
15	chr6:29456577-29456627	Jurkat	blood:	n/a
16	chr6:29457282-29457332	H1-hESC	embryonic stem cell:	embryo
17	chr6:29456611-29456661	CMK	blood:	n/a
18	chr6:29456611-29456661	Caco-2	colon:	n/a
19	chr6:29456577-29456627	GM12878	blood:	n/a
20	chr6:29457282-29457332	AG09319	gingival:	n/a
21	chr6:29456611-29456661	PANC-1	pancreas:	n/a
22	chr6:29456577-29456627	H1-hESC	embryonic stem cell:	embryo
23	chr6:29457094-29457144	HEK293	kidney:	embryo
24	chr6:29456611-29456661	NT2-D1	testis:	n/a
25	chr6:29456611-29456661	HMEC	breast:	n/a
26	chr6:29456577-29456627	HNPCEpiC	eye:	n/a
27	chr6:29457282-29457332	AG10803	skin:	n/a
28	chr6:29457094-29457144	NT2-D1	testis:	n/a
29	chr6:29457094-29457144	HCF	heart:	n/a
30	chr6:29457282-29457332	HL-60	blood:	n/a
31	chr6:29457094-29457144	NHBE	bronchial:	n/a
32	chr6:29457094-29457144	ECC-1	luminal epithelium:	n/a
33	chr6:29457094-29457144	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:29457282-29457332	SK-N-SH	brain:	n/a
35	chr6:29457094-29457144	AG04449	skin:	fetal
36	chr6:29456577-29456627	ovcar-3	ovarian:	n/a
37	chr6:29456577-29456627	GM12892	blood:	n/a
38	chr6:29456577-29456627	CMK	blood:	n/a
39	chr6:29457094-29457144	ovcar-3	ovarian:	n/a
40	chr6:29457282-29457332	PFSK-1	brain:	n/a
41	chr6:29456577-29456627	HEK293	kidney:	embryo
42	chr6:29457094-29457144	Caco-2	colon:	n/a
43	chr6:29457282-29457332	HCT-116	colon:	n/a
44	chr6:29457282-29457332	HCM	heart:	n/a
45	chr6:29457282-29457332	HCF	heart:	n/a
46	chr6:29456577-29456627	HRPEpiC	eye:	n/a
47	chr6:29456577-29456627	AG10803	skin:	n/a
48	chr6:29456577-29456627	NHBE	bronchial:	n/a
49	chr6:29456611-29456661	HRE	kidney:	n/a
50	chr6:29457282-29457332	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29457898..29460263-chr6:29462415..29464583,2	K562	blood:

No data

Variant related genes	Relation type
MAS1L	TF binding region
RPS17P1	TF binding region
MAS1L	CpG island
RPS17P1	CpG island

Extended variants
information (count: 48 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11756938	chr6:29456654-29456655	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11752280	chr6:29456655-29456656	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs114314616	chr6:29456667-29456668	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs547122978	chr6:29456672-29456673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs570538616	chr6:29456720-29456721	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533077382	chr6:29456721-29456722	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs373505159	chr6:29456783-29456784	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs62408596	chr6:29456820-29456821	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs552778634	chr6:29456859-29456860	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549768798	chr6:29456874-29456875	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564852546	chr6:29456967-29456968	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs368027416	chr6:29456997-29456998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532279423	chr6:29457017-29457018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371919812	chr6:29457059-29457060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534177338	chr6:29457102-29457103	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs189820071	chr6:29457109-29457110	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs374897709	chr6:29457117-29457118	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs565733184	chr6:29457143-29457144	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs115812408	chr6:29457150-29457151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555893405	chr6:29457152-29457153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575841622	chr6:29457167-29457168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182087448	chr6:29457194-29457195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141286200	chr6:29457226-29457227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145077376	chr6:29457283-29457284	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs541004623	chr6:29457292-29457293	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs564094916	chr6:29457405-29457406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373461242	chr6:29457410-29457411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549914694	chr6:29457424-29457425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138890813	chr6:29457425-29457426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376628263	chr6:29457440-29457441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114981349	chr6:29457473-29457474	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs548526925	chr6:29457507-29457508	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs568722441	chr6:29457508-29457509	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs149405048	chr6:29457589-29457590	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs187121567	chr6:29457744-29457745	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs553931738	chr6:29457750-29457751	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs144818282	chr6:29457754-29457755	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs192031828	chr6:29457781-29457782	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs61268031	chr6:29457785-29457786	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs113034575	chr6:29457825-29457826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116823990	chr6:29457849-29457850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569957231	chr6:29457856-29457857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372659300	chr6:29457863-29457864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556227895	chr6:29457899-29457900	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs148171637	chr6:29457900-29457901	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs541984358	chr6:29457919-29457920	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs555304809	chr6:29457950-29457951	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs572279360	chr6:29457956-29457957	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	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
Melanoma	17363583	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29452200-29457000	Weak transcription	Liver	Liver
2	chr6:29454800-29457800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:29455000-29457200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:29455400-29457200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:29455600-29457200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:29456000-29457800	Weak transcription	K562	blood
7	chr6:29457000-29457400	Enhancers	Liver	Liver
8	chr6:29457200-29458000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:29457200-29459400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:29457200-29461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:29457800-29458600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:29457800-29459800	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:29457800-29459800	Enhancers	K562	blood

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