Variant report

Variant	nsv823690
Chromosome Location	chr6:53915181-53918427
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	FOS	chr6:53918317-53919532	MCF10A-Er-Src	breast:	n/a	chr6:53919010-53919021 chr6:53919012-53919020 chr6:53919013-53919020 chr6:53919011-53919021 chr6:53919008-53919019 chr6:53919010-53919021 chr6:53919012-53919020
2	FOXA1	chr6:53915581-53915939	A549	lung:	n/a	n/a
3	FOXA1	chr6:53915475-53915891	HepG2	liver:	n/a	n/a
4	FOXA1	chr6:53915593-53915818	A549	lung:	n/a	n/a
5	NFYA	chr6:53917318-53917584	GM12878	blood:	n/a	n/a
6	REST	chr6:53916640-53916877	Hela-S3	cervix:	n/a	n/a
7	REST	chr6:53916623-53916831	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr6:53918219-53918403	MCF10A-Er-Src	breast:	n/a	chr6:53918234-53918242
9	STAT3	chr6:53918183-53918458	MCF10A-Er-Src	breast:	n/a	chr6:53918234-53918242
10	STAT3	chr6:53918349-53919522	MCF10A-Er-Src	breast:	n/a	chr6:53919035-53919046 chr6:53918573-53918580
11	STAT3	chr6:53918041-53918050	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53918180..53920698-chr6:53921750..53923879,2	K562	blood:
2	chr6:53909795..53912319-chr6:53912948..53915242,2	MCF-7	breast:

Variant related genes	Relation type
MLIP-AS1	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554145233	chr6:53915214-53915215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182200775	chr6:53915220-53915221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533824640	chr6:53915230-53915231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553815988	chr6:53915234-53915235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141548822	chr6:53915246-53915247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545700409	chr6:53915280-53915281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75753603	chr6:53915298-53915299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575819618	chr6:53915303-53915304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544571030	chr6:53915323-53915324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561264835	chr6:53915370-53915371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146263885	chr6:53915383-53915384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186671421	chr6:53915384-53915385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139436864	chr6:53915416-53915417	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560651704	chr6:53915417-53915418	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532713459	chr6:53915446-53915447	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs545050380	chr6:53915455-53915456	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568885688	chr6:53915496-53915497	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191524517	chr6:53915506-53915507	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs199770443	chr6:53915542-53915543	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs184957209	chr6:53915553-53915554	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs567701275	chr6:53915575-53915576	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs367753542	chr6:53915576-53915577	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533569966	chr6:53915587-53915588	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs527409068	chr6:53915595-53915596	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs554004700	chr6:53915607-53915608	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs9296735	chr6:53915613-53915614	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539580171	chr6:53915647-53915648	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs560571044	chr6:53915658-53915659	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs188079800	chr6:53915775-53915776	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs193072553	chr6:53915782-53915783	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185321775	chr6:53915793-53915794	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs189446472	chr6:53915797-53915798	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs574867286	chr6:53915824-53915825	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs181927964	chr6:53915931-53915932	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs144087720	chr6:53915953-53915954	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs183631653	chr6:53915957-53915958	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546520720	chr6:53915981-53915982	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs68187952	chr6:53916124-53916125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57712770	chr6:53916128-53916129	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188343735	chr6:53916154-53916155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547858922	chr6:53916167-53916168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567835804	chr6:53916187-53916188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549373954	chr6:53916207-53916208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181162287	chr6:53916228-53916229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372443813	chr6:53916283-53916284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547088142	chr6:53916321-53916322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111385697	chr6:53916354-53916355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570679565	chr6:53916363-53916364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539349974	chr6:53916393-53916394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556463897	chr6:53916399-53916400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	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
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53912400-53916000	Enhancers	Fetal Heart	heart
2	chr6:53913400-53915400	Weak transcription	Right Atrium	heart
3	chr6:53913600-53916000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:53913600-53916200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:53913600-53916800	Weak transcription	Right Ventricle	heart
6	chr6:53913600-53918800	Weak transcription	Psoas Muscle	Psoas
7	chr6:53913600-53926000	Weak transcription	Left Ventricle	heart
8	chr6:53914200-53917800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:53915400-53916000	Active TSS	Right Atrium	heart
10	chr6:53915600-53916400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:53915600-53918600	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:53916000-53916400	Weak transcription	Fetal Heart	heart
13	chr6:53916000-53916400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:53916000-53918800	Weak transcription	Right Atrium	heart
15	chr6:53916200-53918600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr6:53916400-53917200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:53916400-53918800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:53916400-53919200	Enhancers	Fetal Heart	heart
19	chr6:53916800-53917200	Enhancers	Right Ventricle	heart
20	chr6:53917200-53917800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:53917200-53919200	Weak transcription	Right Ventricle	heart
22	chr6:53917800-53918000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr6:53917800-53918000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:53917800-53918200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:53917800-53918600	Enhancers	HMEC	breast
26	chr6:53917800-53918800	Enhancers	Hela-S3	cervix
27	chr6:53917800-53919000	Enhancers	HSMM	muscle
28	chr6:53917800-53919200	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr6:53918000-53918400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:53918000-53918600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:53918000-53918600	Enhancers	HSMMtube	muscle
32	chr6:53918000-53923200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:53918200-53918600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:53918200-53918800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:53918200-53919000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:53918200-53919200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:53918200-53919600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:53918400-53918600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:53918400-53918600	Enhancers	NH-A	brain
40	chr6:53918400-53918600	Enhancers	Osteobl	bone
41	chr6:53918400-53918800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:53918400-53918800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:53918400-53918800	Enhancers	Colon Smooth Muscle	Colon
44	chr6:53918400-53918800	Enhancers	NHEK	skin
45	chr6:53918400-53919000	Enhancers	Duodenum Mucosa	Duodenum
46	chr6:53918400-53919000	Enhancers	Fetal Intestine Large	intestine
47	chr6:53918400-53919000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr6:53918400-53919400	Active TSS	Aorta	Aorta
49	chr6:53918400-53919600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:53918400-53919600	Enhancers	Colonic Mucosa	Colon

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