Variant report

Variant	esv3337271
Chromosome Location	chr6:48920293-48923991
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	CTCF	chr6:48922694-48922748	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:48923639..48925740-chr6:48930258..48932509,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUT-2	chr6:48919707-48920418	NONHSAT113053

Variant related genes	Relation type
ENSG00000271162	TF binding region

Extended variants
information (count: 238 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572171442	chr6:48920316-48920317	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535926395	chr6:48920356-48920357	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs12204534	chr6:48920376-48920377	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs369404746	chr6:48920394-48920395	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs141836966	chr6:48920396-48920397	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs535368955	chr6:48920399-48920400	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs561753007	chr6:48920434-48920435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530273470	chr6:48920469-48920470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112227213	chr6:48920480-48920481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146076362	chr6:48920531-48920532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188378851	chr6:48920532-48920533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138815557	chr6:48920572-48920573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557355555	chr6:48920573-48920574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180981846	chr6:48920575-48920576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534908358	chr6:48920596-48920597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543143230	chr6:48920605-48920606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530535269	chr6:48920628-48920629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116674944	chr6:48920631-48920632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187142524	chr6:48920662-48920663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540377128	chr6:48920676-48920677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192487742	chr6:48920721-48920722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532241101	chr6:48920759-48920760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564173061	chr6:48920774-48920775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550196729	chr6:48920794-48920795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367731479	chr6:48920795-48920796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568489947	chr6:48920832-48920833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183229322	chr6:48920838-48920839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113593176	chr6:48920858-48920859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547967276	chr6:48920922-48920923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113458355	chr6:48920966-48920967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534906445	chr6:48920969-48920970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373137594	chr6:48921000-48921001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111632119	chr6:48921003-48921004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539319139	chr6:48921006-48921007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556684859	chr6:48921021-48921022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557440574	chr6:48921074-48921075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575702362	chr6:48921094-48921095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374126579	chr6:48921100-48921101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367552595	chr6:48921101-48921102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139498756	chr6:48921102-48921103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554769549	chr6:48921114-48921115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10531376	chr6:48921117-48921118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67435876	chr6:48921121-48921122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140504132	chr6:48921122-48921123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200785537	chr6:48921125-48921126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71002637	chr6:48921131-48921132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs67508748	chr6:48921140-48921141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71720370	chr6:48921143-48921144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200644935	chr6:48921144-48921145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201752376	chr6:48921145-48921146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48832200-48944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48923400-48923600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:48923600-48924000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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