Variant report

Variant	esv14813
Chromosome Location	chr6:167835212-167837366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375674795	chr6:167835219-167835220	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530423734	chr6:167835223-167835224	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200401539	chr6:167835259-167835260	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570244209	chr6:167835324-167835325	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs145507554	chr6:167835335-167835336	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186787558	chr6:167835343-167835344	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112062103	chr6:167835364-167835365	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs199997753	chr6:167835368-167835369	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113601038	chr6:167835374-167835375	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542346880	chr6:167835375-167835376	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192606303	chr6:167835390-167835391	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs13210251	chr6:167835409-167835410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368857101	chr6:167835510-167835511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533007536	chr6:167835542-167835543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200779063	chr6:167835549-167835550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201913740	chr6:167835589-167835590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549760418	chr6:167835603-167835604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547550852	chr6:167835604-167835605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559787136	chr6:167835610-167835611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200083949	chr6:167835635-167835636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555124426	chr6:167835787-167835788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570842931	chr6:167835789-167835790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372525014	chr6:167835920-167835921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184854228	chr6:167835991-167835992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187768190	chr6:167835998-167835999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200810392	chr6:167836041-167836042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370561926	chr6:167836054-167836055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202100545	chr6:167836116-167836117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200515011	chr6:167836131-167836132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201623240	chr6:167836144-167836145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535061703	chr6:167836167-167836168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554033390	chr6:167836170-167836171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193178530	chr6:167836200-167836201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199751807	chr6:167836241-167836242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570205286	chr6:167836319-167836320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184991486	chr6:167836327-167836328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148833389	chr6:167836332-167836333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189874634	chr6:167836359-167836360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35572743	chr6:167836371-167836372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71534972	chr6:167836383-167836384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572203268	chr6:167836426-167836427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536559326	chr6:167836443-167836444	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs202099848	chr6:167836445-167836446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34143753	chr6:167836465-167836466	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs35830149	chr6:167836522-167836523	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs184660104	chr6:167836574-167836575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368900325	chr6:167836598-167836599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs543093157	chr6:167836606-167836607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564674367	chr6:167836633-167836634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs62428353	chr6:167836634-167836635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167829600-167841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:167829800-167842200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:167830400-167840200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:167830600-167836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:167833800-167835400	Active TSS	Duodenum Mucosa	Duodenum
6	chr6:167834000-167839400	Weak transcription	Gastric	stomach
7	chr6:167834000-167846400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:167834800-167835400	Active TSS	Colonic Mucosa	Colon
9	chr6:167834800-167835400	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr6:167834800-167835400	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr6:167834800-167839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:167835000-167835400	Enhancers	Fetal Intestine Small	intestine
13	chr6:167835000-167835400	Flanking Active TSS	HepG2	liver
14	chr6:167835000-167839000	Weak transcription	Lung	lung
15	chr6:167835000-167845800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:167835200-167836400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:167835200-167836400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:167835200-167837600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:167835200-167840200	Weak transcription	Stomach Mucosa	stomach
20	chr6:167835200-167851800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:167835200-167856000	Weak transcription	Right Atrium	heart
22	chr6:167835400-167837400	Weak transcription	HepG2	liver
23	chr6:167835400-167837600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:167835400-167839200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:167835400-167839400	Weak transcription	Colonic Mucosa	Colon
26	chr6:167836400-167837000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:167836600-167836800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr6:167836800-167837600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:167837000-167839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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