Variant report

Variant	esv13423
Chromosome Location	chr6:38391599-38404785
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: 486 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369181030	chr6:38391635-38391636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139006054	chr6:38391643-38391644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533771990	chr6:38391645-38391646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78109360	chr6:38391646-38391647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368331829	chr6:38391649-38391650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370165115	chr6:38391662-38391663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62397045	chr6:38391668-38391669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149438127	chr6:38391669-38391670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556351565	chr6:38391678-38391679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551759680	chr6:38391679-38391680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545154288	chr6:38391682-38391683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565048911	chr6:38391761-38391762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9380748	chr6:38391806-38391807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183657282	chr6:38391843-38391844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114950193	chr6:38391920-38391921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534643029	chr6:38391921-38391922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144850954	chr6:38391924-38391925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556788246	chr6:38391930-38391931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148498880	chr6:38391982-38391983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577234345	chr6:38392001-38392002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116918726	chr6:38392023-38392024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554748647	chr6:38392042-38392043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571410985	chr6:38392105-38392106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13200794	chr6:38392127-38392128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142805401	chr6:38392143-38392144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537263951	chr6:38392179-38392180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567255543	chr6:38392324-38392325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557145199	chr6:38392331-38392332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192396364	chr6:38392392-38392393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556205310	chr6:38392495-38392496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375950171	chr6:38392528-38392529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576238952	chr6:38392554-38392555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147259576	chr6:38392611-38392612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558320014	chr6:38392635-38392636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140865648	chr6:38392667-38392668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577416974	chr6:38392677-38392678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185679957	chr6:38392700-38392701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560978340	chr6:38392740-38392741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574752929	chr6:38392763-38392764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190195671	chr6:38392771-38392772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12215127	chr6:38392772-38392773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374238514	chr6:38392825-38392826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532833056	chr6:38392837-38392838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559825491	chr6:38392855-38392856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552852401	chr6:38392866-38392867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559965182	chr6:38392875-38392876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527417439	chr6:38392884-38392885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547530496	chr6:38392887-38392888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567340931	chr6:38392888-38392889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535872596	chr6:38392889-38392890	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:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38373200-38395600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:38376800-38411400	Weak transcription	Primary T cells from cord blood	blood
3	chr6:38390400-38392800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:38391200-38392000	Enhancers	HUVEC	blood vessel
5	chr6:38392200-38395000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:38393600-38394200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:38393600-38395200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:38393600-38395400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:38393600-38395800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:38393800-38394000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:38393800-38394000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:38394000-38394400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:38394000-38395000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:38394000-38395200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:38394400-38395200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:38394600-38395600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:38394600-38396600	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:38395000-38395400	Enhancers	GM12878-XiMat	blood
19	chr6:38395000-38395600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:38395000-38396200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:38395000-38396400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:38395000-38396400	Enhancers	Primary B cells from cord blood	blood
23	chr6:38395200-38395600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:38395200-38395600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:38395200-38395800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:38395200-38396000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:38395200-38396200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:38395200-38396400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr6:38395200-38396400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:38395400-38396200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr6:38395400-38396200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:38395400-38396200	Flanking Active TSS	GM12878-XiMat	blood
33	chr6:38395600-38395800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr6:38395600-38396000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr6:38395600-38396000	Enhancers	Fetal Kidney	kidney
36	chr6:38395600-38396000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr6:38395600-38396200	Enhancers	Fetal Intestine Small	intestine
38	chr6:38395600-38396400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr6:38395600-38396400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr6:38395800-38396000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:38395800-38396000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr6:38395800-38396200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr6:38396000-38396200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr6:38396000-38396200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:38396000-38396400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:38396000-38396400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:38396200-38396400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:38396200-38396400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:38396200-38396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:38396200-38396400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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