Variant report

Variant	esv10631
Chromosome Location	chr3:134647088-134648608
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	chr3:134640278..134641872-chr3:134645739..134647290,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KY-6	chr3:134646939-134647109	ucscGeneNc_uc003epo_2

Extended variants
information (count: 68 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371151406	chr3:134647090-134647091	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs530369641	chr3:134647096-134647097	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs147031161	chr3:134647110-134647111	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569722174	chr3:134647115-134647116	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538721118	chr3:134647130-134647131	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs36178	chr3:134647169-134647170	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs39704	chr3:134647207-134647208	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs185151536	chr3:134647266-134647267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72971661	chr3:134647283-134647284	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573936613	chr3:134647342-134647343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536561513	chr3:134647344-134647345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556163446	chr3:134647407-134647408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576127873	chr3:134647436-134647437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545016261	chr3:134647443-134647444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs39703	chr3:134647471-134647472	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115899999	chr3:134647488-134647489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539279446	chr3:134647510-134647511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541262255	chr3:134647518-134647519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs680054	chr3:134647542-134647543	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565871185	chr3:134647546-134647547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550084438	chr3:134647549-134647550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563668567	chr3:134647617-134647618	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs504033	chr3:134647645-134647646	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs552582053	chr3:134647646-134647647	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187587	chr3:134647665-134647666	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547575533	chr3:134647673-134647674	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3836290	chr3:134647684-134647685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397970677	chr3:134647685-134647686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567486378	chr3:134647701-134647702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143917277	chr3:134647762-134647763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537162058	chr3:134647778-134647779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147259100	chr3:134647781-134647782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556473341	chr3:134647798-134647799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375162833	chr3:134647834-134647835	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs4955518	chr3:134647849-134647850	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538243506	chr3:134647896-134647897	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558569527	chr3:134647955-134647956	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs39702	chr3:134647986-134647987	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541129507	chr3:134647988-134647989	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs561110606	chr3:134647989-134647990	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs138614798	chr3:134648013-134648014	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs16842278	chr3:134648017-134648018	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190053810	chr3:134648033-134648034	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181627109	chr3:134648049-134648050	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs552244822	chr3:134648081-134648082	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs40157	chr3:134648118-134648119	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184014398	chr3:134648127-134648128	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs548723177	chr3:134648128-134648129	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs39701	chr3:134648162-134648163	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536434224	chr3:134648261-134648262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134639000-134649400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:134639400-134653800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:134641600-134650400	Weak transcription	Fetal Brain Male	brain
4	chr3:134641800-134649800	Weak transcription	Brain Anterior Caudate	brain
5	chr3:134642400-134653800	Weak transcription	Brain Germinal Matrix	brain
6	chr3:134644200-134649600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:134644200-134654800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:134644600-134656400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:134644800-134649000	Enhancers	Fetal Muscle Leg	muscle
10	chr3:134645200-134647200	Enhancers	HSMMtube	muscle
11	chr3:134645200-134649200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:134646400-134648600	Weak transcription	Fetal Stomach	stomach
13	chr3:134646600-134649600	Enhancers	Fetal Thymus	thymus
14	chr3:134646800-134647200	Genic enhancers	GM12878-XiMat	blood
15	chr3:134647200-134647800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:134647200-134648600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:134647200-134648800	Enhancers	GM12878-XiMat	blood
18	chr3:134647400-134648600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:134647800-134648200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:134647800-134650400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:134648200-134648800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:134648400-134648600	Enhancers	Fetal Muscle Trunk	muscle
23	chr3:134648600-134649000	Enhancers	Fetal Stomach	stomach
24	chr3:134648600-134649400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:134648600-134650200	Weak transcription	Fetal Muscle Trunk	muscle

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