Variant report

Variant	nsv515670
Chromosome Location	chr6:38395874-38400139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38371909..38373449-chr6:38395704..38397463,2	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13194990	chr6:38395874-38395875	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564249880	chr6:38395896-38395897	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533498004	chr6:38395915-38395916	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373113401	chr6:38395932-38395933	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75460096	chr6:38395946-38395947	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550498229	chr6:38395971-38395972	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148656010	chr6:38395972-38395973	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78128943	chr6:38396043-38396044	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566117021	chr6:38396058-38396059	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62397048	chr6:38396086-38396087	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539923155	chr6:38396107-38396108	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151220447	chr6:38396116-38396117	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35346876	chr6:38396133-38396134	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75600619	chr6:38396134-38396135	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557966296	chr6:38396157-38396158	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571524431	chr6:38396206-38396207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528401960	chr6:38396224-38396225	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534101011	chr6:38396256-38396257	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552653306	chr6:38396309-38396310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs9357273	chr6:38396383-38396384	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541060475	chr6:38396408-38396409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541849633	chr6:38396419-38396420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373574315	chr6:38396427-38396428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72852635	chr6:38396434-38396435	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575521893	chr6:38396469-38396470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544161543	chr6:38396484-38396485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564335806	chr6:38396546-38396547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533181660	chr6:38396570-38396571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540379911	chr6:38396582-38396583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560574517	chr6:38396601-38396602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529369184	chr6:38396614-38396615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140413552	chr6:38396633-38396634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13195992	chr6:38396640-38396641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370767169	chr6:38396647-38396648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182326346	chr6:38396679-38396680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146430891	chr6:38396777-38396778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377205930	chr6:38396792-38396793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534134023	chr6:38396919-38396920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553937151	chr6:38396969-38396970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566607655	chr6:38396989-38396990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6911918	chr6:38397005-38397006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370612358	chr6:38397006-38397007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555374976	chr6:38397063-38397064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9394498	chr6:38397088-38397089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187387625	chr6:38397180-38397181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138596834	chr6:38397207-38397208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544938576	chr6:38397217-38397218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376685630	chr6:38397231-38397232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148968947	chr6:38397244-38397245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369970493	chr6:38397248-38397249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38376800-38411400	Weak transcription	Primary T cells from cord blood	blood
2	chr6:38394600-38396600	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:38395000-38396200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:38395000-38396400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:38395000-38396400	Enhancers	Primary B cells from cord blood	blood
6	chr6:38395200-38396000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:38395200-38396200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:38395200-38396400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:38395200-38396400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr6:38395400-38396200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr6:38395400-38396200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:38395400-38396200	Flanking Active TSS	GM12878-XiMat	blood
13	chr6:38395600-38396000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:38395600-38396000	Enhancers	Fetal Kidney	kidney
15	chr6:38395600-38396000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr6:38395600-38396200	Enhancers	Fetal Intestine Small	intestine
17	chr6:38395600-38396400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:38395600-38396400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:38395800-38396000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:38395800-38396000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr6:38395800-38396200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:38396000-38396200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:38396000-38396200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:38396000-38396400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:38396000-38396400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:38396200-38396400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:38396200-38396400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:38396200-38396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:38396200-38396400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:38396200-38396400	Enhancers	GM12878-XiMat	blood
31	chr6:38396200-38397400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:38396200-38401200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:38396200-38404400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr6:38396400-38396600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:38396400-38397400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:38396400-38397400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:38396400-38398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:38396400-38399400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:38396400-38399400	Weak transcription	GM12878-XiMat	blood
40	chr6:38396400-38401600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:38396400-38449800	Weak transcription	Primary B cells from cord blood	blood
42	chr6:38396600-38401800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:38396800-38404600	Weak transcription	NHDF-Ad	bronchial
44	chr6:38397400-38397800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:38397400-38397800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:38397600-38397800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:38397800-38398400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:38397800-38401600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:38398400-38398800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:38398400-38400200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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