Variant report

Variant	nsv981054
Chromosome Location	chr6:30387468-30392258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30386050..30388643-chr6:30391720..30393576,2	MCF-7	breast:
2	chr6:30386050..30388643-chr6:30391720..30393576,2	MCF-7	breast:
3	chr6:30384989..30387983-chr6:30390745..30393003,2	K562	blood:
4	chr6:30383321..30385236-chr6:30386462..30388698,2	MCF-7	breast:
5	chr6:30364310..30365862-chr6:30386384..30388997,2	MCF-7	breast:
6	chr6:30384989..30387983-chr6:30390745..30393003,2	K562	blood:
7	chr6:30380952..30384667-chr6:30386673..30389385,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNL1-2	chr6:30390025-30390238	l_3159_chr6:30370222-30402164_hela

No data

Variant related genes	Relation type
ENSG00000226577	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1548514	chr6:30387468-30387469	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369863033	chr6:30387507-30387508	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531683401	chr6:30387664-30387665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542794666	chr6:30387673-30387674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1548513	chr6:30387687-30387688	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs527614522	chr6:30387692-30387693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547165425	chr6:30387724-30387725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1548512	chr6:30387773-30387774	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549535000	chr6:30387796-30387797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374179461	chr6:30387807-30387808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144083813	chr6:30387841-30387842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564856210	chr6:30387859-30387860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9261884	chr6:30387885-30387886	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535397516	chr6:30388002-30388003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs13215715	chr6:30388010-30388011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377471380	chr6:30388026-30388027	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146494850	chr6:30388032-30388033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141101349	chr6:30388068-30388069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115766671	chr6:30388071-30388072	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs149756677	chr6:30388123-30388124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145706806	chr6:30388129-30388130	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185778920	chr6:30388170-30388171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9261885	chr6:30388188-30388189	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576474412	chr6:30388194-30388195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9261886	chr6:30388247-30388248	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs386698748	chr6:30388373-30388374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561587766	chr6:30388374-30388375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9261888	chr6:30388376-30388377	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9261889	chr6:30388379-30388380	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557940952	chr6:30388480-30388481	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188642915	chr6:30388486-30388487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533100982	chr6:30388509-30388510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549727635	chr6:30388547-30388548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569718621	chr6:30388566-30388567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192193625	chr6:30388600-30388601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538644278	chr6:30388645-30388646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs9261890	chr6:30388675-30388676	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73421291	chr6:30388730-30388731	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9261891	chr6:30388779-30388780	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539987057	chr6:30388865-30388866	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9261892	chr6:30388872-30388873	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184357736	chr6:30388894-30388895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188871604	chr6:30388921-30388922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9261893	chr6:30388936-30388937	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181254124	chr6:30388971-30388972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184497684	chr6:30389052-30389053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564373431	chr6:30389068-30389069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9261894	chr6:30389103-30389104	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543584037	chr6:30389179-30389180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541012314	chr6:30389183-30389184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	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
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30387400-30387600	Bivalent Enhancer	Fetal Intestine Large	intestine

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