Variant report

Variant	esv3406794
Chromosome Location	chr6:167833987-167838135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTLL2-2	chr6:167837702-167837948	NONHSAT116104

Extended variants
information (count: 145 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150494003	chr6:167834013-167834014	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539591936	chr6:167834104-167834105	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs548824705	chr6:167834106-167834107	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567229517	chr6:167834108-167834109	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4644019	chr6:167834203-167834204	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550053778	chr6:167834227-167834228	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571657137	chr6:167834240-167834241	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs71004148	chr6:167834252-167834253	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538952332	chr6:167834304-167834305	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553907992	chr6:167834306-167834307	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190436884	chr6:167834351-167834352	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144065669	chr6:167834372-167834373	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111760803	chr6:167834380-167834381	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs576375563	chr6:167834397-167834398	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs386708614	chr6:167834402-167834403	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4544888	chr6:167834404-167834405	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577966722	chr6:167834410-167834411	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72578751	chr6:167834456-167834457	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560263674	chr6:167834478-167834479	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72578752	chr6:167834486-167834487	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542693285	chr6:167834512-167834513	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560862336	chr6:167834526-167834527	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113327954	chr6:167834560-167834561	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531207254	chr6:167834593-167834594	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183297089	chr6:167834607-167834608	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs564263122	chr6:167834627-167834628	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs570920788	chr6:167834658-167834659	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs142776831	chr6:167834667-167834668	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs151230045	chr6:167834677-167834678	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs368517372	chr6:167834748-167834749	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs536485046	chr6:167834760-167834761	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs576157248	chr6:167834807-167834808	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs537551914	chr6:167834808-167834809	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs558954363	chr6:167834872-167834873	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs577328909	chr6:167834873-167834874	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs139213426	chr6:167834879-167834880	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs553814052	chr6:167834925-167834926	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs188345021	chr6:167835043-167835044	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs376770145	chr6:167835060-167835061	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527838168	chr6:167835069-167835070	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4708785	chr6:167835080-167835081	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146489373	chr6:167835105-167835106	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs190983526	chr6:167835108-167835109	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113018729	chr6:167835126-167835127	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs140959702	chr6:167835143-167835144	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs564513158	chr6:167835146-167835147	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532009163	chr6:167835151-167835152	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs4709183	chr6:167835192-167835193	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375674795	chr6:167835219-167835220	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs530423734	chr6:167835223-167835224	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167829600-167834800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:167829600-167841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:167829800-167842200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:167830400-167840200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:167830600-167836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:167832400-167834200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:167833200-167834200	Enhancers	Fetal Intestine Small	intestine
8	chr6:167833400-167834400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr6:167833400-167834400	Enhancers	HepG2	liver
10	chr6:167833600-167834000	Enhancers	Gastric	stomach
11	chr6:167833600-167834200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:167833600-167834200	Enhancers	Fetal Intestine Large	intestine
13	chr6:167833600-167834200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr6:167833800-167834000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr6:167833800-167834000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:167833800-167834200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:167833800-167834800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:167833800-167835000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:167833800-167835200	Enhancers	Stomach Mucosa	stomach
20	chr6:167833800-167835400	Active TSS	Duodenum Mucosa	Duodenum
21	chr6:167834000-167839400	Weak transcription	Gastric	stomach
22	chr6:167834000-167846400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:167834200-167834400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:167834200-167834600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:167834200-167834600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:167834200-167834600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:167834200-167834800	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr6:167834200-167835000	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr6:167834400-167834600	Enhancers	Colonic Mucosa	Colon
30	chr6:167834400-167834600	Genic enhancers	HepG2	liver
31	chr6:167834400-167834800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr6:167834400-167835200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr6:167834600-167834800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr6:167834600-167834800	Flanking Active TSS	Colonic Mucosa	Colon
35	chr6:167834600-167834800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr6:167834600-167835000	Transcr. at gene 5' and 3'	HepG2	liver
37	chr6:167834600-167835200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr6:167834600-167835200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:167834600-167835200	Bivalent Enhancer	Placenta	Placenta
40	chr6:167834800-167835000	Enhancers	Lung	lung
41	chr6:167834800-167835200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:167834800-167835400	Active TSS	Colonic Mucosa	Colon
43	chr6:167834800-167835400	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr6:167834800-167835400	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr6:167834800-167839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:167835000-167835400	Enhancers	Fetal Intestine Small	intestine
47	chr6:167835000-167835400	Flanking Active TSS	HepG2	liver
48	chr6:167835000-167839000	Weak transcription	Lung	lung
49	chr6:167835000-167845800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:167835200-167836400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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