Variant report

Variant	esv3374876
Chromosome Location	chr7:136413245-136480051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:136439806..136443894-chr7:136444582..136448584,3	K562	blood:
2	chr7:136421411..136423390-chr7:136432152..136434330,2	K562	blood:
3	chr7:136439806..136443894-chr7:136444582..136448584,3	K562	blood:
4	chr7:136419237..136421659-chr7:136423427..136425253,2	K562	blood:
5	chr7:136402536..136404379-chr7:136418301..136420044,2	K562	blood:
6	chr7:136421411..136423390-chr7:136432152..136434330,2	K562	blood:
7	chr7:136419237..136421659-chr7:136423427..136425253,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTN-3	chr7:136428551-136428735	XLOC_006618
2	lnc-PTN-2	chr7:136428512-136428735	ENSG00000234352.5
3	lnc-PTN-2	chr7:136437014-136437237	ENSG00000234352.5
4	lnc-PTN-3	chr7:136431584-136431731	XLOC_006618
5	lnc-PTN-2	chr7:136468822-136470638	ENSG00000234352
6	lnc-PTN-2	chr7:136428512-136428735	ENSG00000234352.5
7	lnc-PTN-2	chr7:136470446-136470638	ENSG00000234352.5
8	lnc-PTN-2	chr7:136470446-136470638	ENSG00000234352.5
9	lnc-PTN-2	chr7:136437011-136437237	ENSG00000234352.5

No data

Variant related genes	Relation type
LPHN3	miRNA target sites

Extended variants
information (count: 411 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:411 , 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	rs181257326	chr7:136413618-136413619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551113130	chr7:136413626-136413627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183826123	chr7:136413687-136413688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143811461	chr7:136413691-136413692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547005309	chr7:136413718-136413719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566728718	chr7:136413727-136413728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111337898	chr7:136413730-136413731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555566563	chr7:136413762-136413763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10237943	chr7:136413791-136413792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188156025	chr7:136413844-136413845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181052914	chr7:136413967-136413968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112343664	chr7:136413979-136413980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540555873	chr7:136413986-136413987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186037589	chr7:136413987-136413988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150220131	chr7:136413995-136413996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542748447	chr7:136414045-136414046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562445131	chr7:136414049-136414050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531277901	chr7:136414070-136414071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10238281	chr7:136414088-136414089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138845401	chr7:136414090-136414091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142032930	chr7:136414091-136414092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192069258	chr7:136414116-136414117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566894908	chr7:136414142-136414143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529278257	chr7:136414146-136414147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549315100	chr7:136414149-136414150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373237585	chr7:136414165-136414166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569398727	chr7:136414174-136414175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182291024	chr7:136414189-136414190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143260799	chr7:136422630-136422631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10954542	chr7:136422633-136422634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546323060	chr7:136422653-136422654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543720081	chr7:136422656-136422657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199942127	chr7:136422678-136422679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191730404	chr7:136422686-136422687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564503330	chr7:136422759-136422760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375103048	chr7:136422776-136422777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533241110	chr7:136422798-136422799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576377605	chr7:136422839-136422840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183895962	chr7:136422840-136422841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113416561	chr7:136422849-136422850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188182651	chr7:136422872-136422873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs36072577	chr7:136422887-136422888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527749782	chr7:136422889-136422890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367750194	chr7:136422942-136422943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35672016	chr7:136423033-136423034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192573132	chr7:136423042-136423043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76368777	chr7:136423043-136423044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201320490	chr7:136423118-136423119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550743588	chr7:136423245-136423246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531758820	chr7:136423264-136423265	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136413600-136414000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:136413600-136414000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:136413800-136414200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:136422600-136423400	Enhancers	Fetal Heart	heart
5	chr7:136423400-136423800	Weak transcription	Fetal Heart	heart
6	chr7:136423800-136424000	Enhancers	Colon Smooth Muscle	Colon
7	chr7:136423800-136424000	Enhancers	Fetal Heart	heart
8	chr7:136423800-136424200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:136424000-136425200	Weak transcription	Fetal Heart	heart
10	chr7:136424200-136425200	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:136425200-136425600	Enhancers	Colon Smooth Muscle	Colon
12	chr7:136425200-136425800	Enhancers	Fetal Heart	heart
13	chr7:136425600-136426800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:136425800-136428000	Weak transcription	Fetal Heart	heart
15	chr7:136426400-136427200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:136426800-136427000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:136426800-136427200	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:136426800-136427200	Enhancers	Brain Hippocampus Middle	brain
19	chr7:136426800-136427200	Enhancers	Colon Smooth Muscle	Colon
20	chr7:136426800-136427200	Enhancers	Stomach Smooth Muscle	stomach
21	chr7:136428000-136429200	Enhancers	Fetal Heart	heart
22	chr7:136444400-136444800	Enhancers	Fetal Heart	heart
23	chr7:136451800-136452200	Enhancers	Fetal Heart	heart
24	chr7:136465000-136465400	Active TSS	HUES6 Cell Line	embryonic stem cell

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