Variant report

Variant	esv988239
Chromosome Location	chr6:57293273-57301905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57296504..57298287-chr6:57300033..57301535,2	K562	blood:
2	chr6:57296504..57298287-chr6:57300033..57301535,2	K562	blood:
3	chr6:57297598..57300578-chr6:57301764..57305557,4	K562	blood:
4	chr6:57293162..57295571-chr6:57300739..57302981,3	K562	blood:
5	chr6:57297598..57300578-chr6:57301764..57305557,4	K562	blood:
6	chr6:57297690..57300107-chr6:57303137..57305465,2	MCF-7	breast:
7	chr6:57293162..57295571-chr6:57300739..57302981,3	K562	blood:

Extended variants
information (count: 447 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs982319	chr6:57293291-57293292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530629171	chr6:57293341-57293342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs982318	chr6:57293353-57293354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373846994	chr6:57293364-57293365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570460880	chr6:57293384-57293385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs5876558	chr6:57293417-57293418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386407194	chr6:57293418-57293419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386407195	chr6:57293419-57293420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367570878	chr6:57293436-57293437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71209176	chr6:57293470-57293471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568283327	chr6:57293485-57293486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528323894	chr6:57293513-57293514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547849694	chr6:57293537-57293538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149619682	chr6:57293558-57293559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61344709	chr6:57293580-57293581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs982317	chr6:57293587-57293588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1119375	chr6:57293632-57293633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs77554918	chr6:57293634-57293635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75035146	chr6:57293637-57293638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572885711	chr6:57293649-57293650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190672001	chr6:57293660-57293661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562375093	chr6:57293666-57293667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73749587	chr6:57293675-57293676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139358967	chr6:57293700-57293701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73749588	chr6:57293704-57293705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113359917	chr6:57293705-57293706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73749589	chr6:57293706-57293707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1119374	chr6:57293736-57293737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72873535	chr6:57293738-57293739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73749591	chr6:57293758-57293759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368408221	chr6:57293766-57293767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113199574	chr6:57293798-57293799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73749592	chr6:57293810-57293811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114346801	chr6:57293820-57293821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528058440	chr6:57293824-57293825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13197907	chr6:57293831-57293832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143356224	chr6:57293864-57293865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386701522	chr6:57293940-57293941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13200817	chr6:57293941-57293942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550503727	chr6:57293968-57293969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568688214	chr6:57293987-57293988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539280861	chr6:57293989-57293990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13217112	chr6:57293992-57293993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557794483	chr6:57293993-57293994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573278093	chr6:57294025-57294026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534147573	chr6:57294032-57294033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537104452	chr6:57294034-57294035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555484437	chr6:57294059-57294060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574017450	chr6:57294076-57294077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13201195	chr6:57294091-57294092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57281600-57297000	Weak transcription	Primary B cells from cord blood	blood
2	chr6:57281600-57297600	Weak transcription	Dnd41	blood
3	chr6:57283000-57295800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:57283400-57296400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:57284400-57303600	Weak transcription	Pancreas	Pancrea
6	chr6:57284600-57295800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:57284600-57296200	Weak transcription	HSMM	muscle
8	chr6:57286600-57294000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:57286600-57299600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:57286600-57310200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:57286800-57294600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:57288600-57297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:57288800-57295800	Weak transcription	NHLF	lung
14	chr6:57288800-57303400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:57289000-57293400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:57289000-57294400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:57289000-57310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:57289200-57294600	Weak transcription	Osteobl	bone
19	chr6:57289200-57295200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:57289400-57305400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:57291200-57296400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:57291600-57305600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:57292400-57301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:57292600-57294200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:57293000-57293600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:57293000-57293800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:57293000-57294000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:57293000-57295000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:57293200-57294000	Weak transcription	NHDF-Ad	bronchial
30	chr6:57293200-57294200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:57293400-57294400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:57293600-57296400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:57293800-57294200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:57293800-57294800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:57294000-57294200	Enhancers	Aorta	Aorta
36	chr6:57294000-57294400	Enhancers	Ovary	ovary
37	chr6:57294000-57294600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:57294000-57295000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:57294000-57301200	Enhancers	NHDF-Ad	bronchial
40	chr6:57294200-57294400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:57294200-57294400	Enhancers	Left Ventricle	heart
42	chr6:57294200-57294600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:57294200-57296600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:57294200-57301800	Weak transcription	Aorta	Aorta
45	chr6:57294400-57295000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:57294400-57296200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:57294400-57296200	Weak transcription	Ovary	ovary
48	chr6:57294400-57296600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:57294400-57301800	Weak transcription	Left Ventricle	heart
50	chr6:57294600-57294800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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