Variant report

Variant	nsv970027
Chromosome Location	chr6:5224106-5230510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:5227460-5227503	K562	blood:	n/a	n/a
2	CEBPB	chr6:5225174-5225191	K562	blood:	n/a	n/a
3	CTCF	chr6:5228549-5228607	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUN	chr6:5229555-5231428	K562	blood:	n/a	chr6:5231190-5231202
5	MAFK	chr6:5225790-5226058	HepG2	liver:	n/a	n/a
6	MAFK	chr6:5225771-5226007	HepG2	liver:	n/a	n/a
7	MAX	chr6:5226444-5226534	NB4	blood:	n/a	chr6:5226477-5226487 chr6:5226515-5226525
8	POLR2A	chr6:5225903-5226103	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr6:5228633-5228818	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:5228680-5228690	Hela-S3	cervix:	n/a	n/a
11	UBTF	chr6:5229693-5229719	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:5214762..5218085-chr6:5221984..5224598,3	K562	blood:
2	chr6:5230386..5232263-chr6:5256966..5259626,3	K562	blood:
3	chr6:5225760..5229160-chr6:5229545..5232329,3	K562	blood:
4	chr6:5230476..5232022-chr6:5258422..5260596,2	MCF-7	breast:
5	chr6:5230156..5232438-chr6:5235968..5238786,2	K562	blood:
6	chr6:5225760..5229160-chr6:5229545..5232329,3	K562	blood:
7	chr6:5229273..5236632-chr6:5256966..5263752,14	K562	blood:
8	chr6:5230470..5234059-chr6:5238382..5241412,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264541	TF binding region
ENSG00000214113	chromatin interactions
ENSG00000145982	chromatin interactions

Extended variants
information (count: 273 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544042439	chr6:5224146-5224147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556436745	chr6:5224157-5224158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577987362	chr6:5224170-5224171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557560725	chr6:5224179-5224180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574254144	chr6:5224255-5224256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553668699	chr6:5224265-5224266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78404326	chr6:5224276-5224277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79326135	chr6:5224294-5224295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543016051	chr6:5224320-5224321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60890075	chr6:5224327-5224328	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139990360	chr6:5224328-5224329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34752569	chr6:5224331-5224332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543641269	chr6:5224341-5224342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115207449	chr6:5224348-5224349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143353065	chr6:5224426-5224427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547653365	chr6:5224443-5224444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566043271	chr6:5224447-5224448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375598598	chr6:5224481-5224482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527247084	chr6:5224489-5224490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190098484	chr6:5224505-5224506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567240348	chr6:5224509-5224510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56355140	chr6:5224548-5224549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79232509	chr6:5224625-5224626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537978868	chr6:5224629-5224630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146740279	chr6:5224631-5224632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571438778	chr6:5224635-5224636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36007403	chr6:5224664-5224665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78364930	chr6:5224695-5224696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572305905	chr6:5224720-5224721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181545505	chr6:5224757-5224758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554984843	chr6:5224785-5224786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115785006	chr6:5224805-5224806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76973582	chr6:5224806-5224807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565056898	chr6:5224840-5224841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148848826	chr6:5224856-5224857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541229873	chr6:5224904-5224905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143504003	chr6:5224920-5224921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185066919	chr6:5224932-5224933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570059387	chr6:5224947-5224948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535644747	chr6:5224959-5224960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548686471	chr6:5225010-5225011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560967429	chr6:5225021-5225022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189448233	chr6:5225029-5225030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549867432	chr6:5225030-5225031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13209775	chr6:5225085-5225086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538789642	chr6:5225091-5225092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547656499	chr6:5225108-5225109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140732121	chr6:5225160-5225161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34110180	chr6:5225170-5225171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559785580	chr6:5225207-5225208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5176200-5239600	Weak transcription	Thymus	Thymus
2	chr6:5206200-5246800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:5206600-5240800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:5206800-5232400	Weak transcription	Psoas Muscle	Psoas
5	chr6:5207000-5231000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:5208200-5259800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:5208400-5231400	Weak transcription	Brain Anterior Caudate	brain
8	chr6:5208400-5239800	Weak transcription	Liver	Liver
9	chr6:5208800-5231000	Weak transcription	Brain Angular Gyrus	brain
10	chr6:5210000-5230400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:5212600-5230800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:5214200-5231600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:5214600-5241000	Weak transcription	Brain Germinal Matrix	brain
14	chr6:5214600-5248800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:5214800-5231600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:5214800-5248800	Weak transcription	A549	lung
17	chr6:5215000-5241400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:5215000-5244800	Weak transcription	Gastric	stomach
19	chr6:5215000-5252600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:5215000-5257400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:5215000-5259800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:5215200-5224800	Weak transcription	Fetal Thymus	thymus
23	chr6:5215200-5227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:5215200-5239400	Weak transcription	Aorta	Aorta
25	chr6:5215200-5239400	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:5215200-5239800	Weak transcription	Esophagus	oesophagus
27	chr6:5215200-5239800	Weak transcription	Lung	lung
28	chr6:5215200-5244800	Weak transcription	Left Ventricle	heart
29	chr6:5215200-5244800	Weak transcription	Right Ventricle	heart
30	chr6:5215400-5239600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:5215400-5259800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:5215600-5229600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:5215600-5230400	Weak transcription	HSMM	muscle
34	chr6:5215600-5251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:5215600-5254600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:5215600-5259800	Weak transcription	NHDF-Ad	bronchial
37	chr6:5215800-5235200	Weak transcription	Fetal Intestine Small	intestine
38	chr6:5215800-5251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:5216000-5229400	Weak transcription	Osteobl	bone
40	chr6:5216000-5240200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:5216200-5235000	Weak transcription	Fetal Intestine Large	intestine
42	chr6:5216200-5241200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:5216200-5251400	Weak transcription	Fetal Brain Female	brain
44	chr6:5216400-5231200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:5216400-5233400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:5216400-5235800	Weak transcription	Hela-S3	cervix
47	chr6:5216400-5259600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:5216600-5230200	Weak transcription	K562	blood
49	chr6:5216600-5239400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:5216600-5239800	Weak transcription	Pancreas	Pancrea

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