Variant report

Variant	esv2761357
Chromosome Location	chr7:110233572-110252960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:110233254..110235232-chr7:110235451..110237556,2	K562	blood:
2	chr7:110230991..110233321-chr7:110235891..110237752,2	K562	blood:
3	chr7:110233254..110235232-chr7:110235451..110237556,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRN3-1	chr7:110242131-110242165	XLOC_006207

Variant related genes	Relation type
TNRC6A	miRNA target sites

Extended variants
information (count: 503 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1615986	chr7:110233572-110233573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546703608	chr7:110233593-110233594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566602926	chr7:110233633-110233634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189660758	chr7:110233714-110233715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373856348	chr7:110233756-110233757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568623146	chr7:110233774-110233775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537766368	chr7:110233780-110233781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557256851	chr7:110233808-110233809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193060307	chr7:110233881-110233882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546026890	chr7:110233886-110233887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1723745	chr7:110233943-110233944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551707066	chr7:110233949-110233950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13236151	chr7:110234079-110234080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562129464	chr7:110234115-110234116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369824971	chr7:110234118-110234119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185299368	chr7:110234171-110234172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368556458	chr7:110234297-110234298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544497412	chr7:110234300-110234301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564407650	chr7:110234356-110234357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533154143	chr7:110234387-110234388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546864491	chr7:110234413-110234414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190590367	chr7:110234436-110234437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142366036	chr7:110234445-110234446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544546474	chr7:110234471-110234472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562744765	chr7:110234537-110234538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182078116	chr7:110234545-110234546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186448043	chr7:110234589-110234590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537480845	chr7:110234692-110234693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557220122	chr7:110234753-110234754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570854318	chr7:110234807-110234808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539597429	chr7:110234814-110234815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553158184	chr7:110234815-110234816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113114130	chr7:110234844-110234845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10273667	chr7:110234895-110234896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555772158	chr7:110234898-110234899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555609088	chr7:110234917-110234918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575579341	chr7:110234924-110234925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570822485	chr7:110234941-110234942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564370063	chr7:110234950-110234951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs207468406	chr7:110234959-110234960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375288759	chr7:110234965-110234966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67802067	chr7:110234976-110234977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113028517	chr7:110234977-110234978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201669843	chr7:110234978-110234979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540390375	chr7:110234981-110234982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560314296	chr7:110234982-110234983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368983966	chr7:110234987-110234988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372666727	chr7:110234992-110234993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566563955	chr7:110234993-110234994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144806966	chr7:110234997-110234998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110231200-110240600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:110233200-110233800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr7:110233400-110233800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:110239400-110242800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:110240400-110243000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:110240600-110241400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:110240600-110242400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:110240600-110242400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:110240600-110242600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:110240800-110242200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:110241000-110241200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:110241000-110241400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:110241000-110242200	Enhancers	Brain Germinal Matrix	brain
14	chr7:110241200-110241400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:110241400-110241600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:110241400-110242200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:110241400-110242200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:110241600-110242800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:110242000-110242400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:110242200-110242400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:110246600-110247000	Enhancers	Dnd41	blood
22	chr7:110247000-110247600	Enhancers	Primary T cells from cord blood	blood
23	chr7:110247000-110247600	Flanking Active TSS	Dnd41	blood
24	chr7:110247200-110247400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:110247200-110247600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr7:110247200-110247800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr7:110247600-110248400	Enhancers	Dnd41	blood
28	chr7:110248400-110251200	Weak transcription	Dnd41	blood
29	chr7:110251200-110252000	Enhancers	Dnd41	blood

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