Variant report

Variant	esv3356254
Chromosome Location	chr6:2374553-2378751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:2373039..2375063-chr6:2375225..2378148,2	K562	blood:
2	chr6:2373039..2375063-chr6:2375225..2378148,2	K562	blood:
3	chr6:2368647..2371784-chr6:2373502..2376486,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRNIP1-34	chr6:2370339-2376003	NONHSAT106653
2	lnc-WRNIP1-34	chr6:2375535-2376003	NONHSAT106652

Extended variants
information (count: 195 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12525582	chr6:2374647-2374648	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9503162	chr6:2374671-2374672	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573082280	chr6:2374680-2374681	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs372815541	chr6:2374685-2374686	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs1883586	chr6:2374703-2374704	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9501831	chr6:2374712-2374713	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34013319	chr6:2374723-2374724	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551866290	chr6:2374803-2374804	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1883587	chr6:2374821-2374822	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs549940399	chr6:2374857-2374858	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs142934896	chr6:2374861-2374862	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs182174665	chr6:2374863-2374864	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs1883588	chr6:2374888-2374889	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs186856995	chr6:2374896-2374897	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549075197	chr6:2374904-2374905	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs191727390	chr6:2374907-2374908	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs4959176	chr6:2374910-2374911	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568030043	chr6:2374924-2374925	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs551625115	chr6:2374945-2374946	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs1883589	chr6:2374977-2374978	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537031250	chr6:2375011-2375012	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs137891553	chr6:2375111-2375112	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs185003496	chr6:2375143-2375144	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs189978934	chr6:2375172-2375173	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs553105650	chr6:2375197-2375198	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs573045456	chr6:2375201-2375202	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs545238861	chr6:2375289-2375290	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs554477312	chr6:2375320-2375321	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs193194143	chr6:2375436-2375437	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs571072403	chr6:2375448-2375449	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs539997523	chr6:2375468-2375469	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs575476925	chr6:2375489-2375490	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs543796456	chr6:2375494-2375495	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs556697505	chr6:2375507-2375508	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs185202950	chr6:2375544-2375545	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs142307757	chr6:2375545-2375546	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs147200157	chr6:2375546-2375547	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs150536577	chr6:2375552-2375553	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs528648743	chr6:2375577-2375578	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs551717955	chr6:2375615-2375616	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs571908940	chr6:2375651-2375652	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs4959177	chr6:2375660-2375661	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555506826	chr6:2375669-2375670	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs376110205	chr6:2375679-2375680	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs567222547	chr6:2375724-2375725	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs138556004	chr6:2375830-2375831	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs553068900	chr6:2375831-2375832	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs117717557	chr6:2375851-2375852	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs538815002	chr6:2375852-2375853	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs149268229	chr6:2375860-2375861	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2344400-2377400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:2352400-2376400	Weak transcription	HSMMtube	muscle
3	chr6:2353800-2376400	Weak transcription	Pancreas	Pancrea
4	chr6:2354200-2376400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:2356200-2382200	Weak transcription	Aorta	Aorta
6	chr6:2356600-2382800	Weak transcription	Psoas Muscle	Psoas
7	chr6:2360400-2379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:2362400-2376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:2362400-2391800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:2362400-2397200	Weak transcription	Liver	Liver
11	chr6:2362800-2397200	Weak transcription	Left Ventricle	heart
12	chr6:2367400-2377200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:2370200-2389000	Weak transcription	Esophagus	oesophagus
14	chr6:2370400-2376800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:2371400-2376600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:2375400-2377000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:2376400-2376600	Enhancers	HSMMtube	muscle
18	chr6:2376400-2376800	Enhancers	Pancreas	Pancrea
19	chr6:2376400-2377000	Enhancers	Gastric	stomach
20	chr6:2376400-2378400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:2376600-2376800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:2376600-2377000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:2376600-2377000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:2376600-2377000	Enhancers	Osteobl	bone
25	chr6:2376600-2377200	Enhancers	A549	lung
26	chr6:2376600-2377200	Flanking Active TSS	HSMMtube	muscle
27	chr6:2376600-2377600	Enhancers	Stomach Smooth Muscle	stomach
28	chr6:2376600-2378800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:2376600-2380200	Enhancers	HSMM	muscle
30	chr6:2376800-2377000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:2376800-2377000	Enhancers	Colon Smooth Muscle	Colon
32	chr6:2376800-2377000	Enhancers	Rectal Smooth Muscle	rectum
33	chr6:2376800-2377200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:2376800-2377200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:2376800-2377400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:2376800-2377400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:2376800-2377400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:2376800-2377600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:2376800-2377800	Enhancers	Hela-S3	cervix
40	chr6:2376800-2378200	Enhancers	NH-A	brain
41	chr6:2376800-2380400	Enhancers	HMEC	breast
42	chr6:2376800-2380400	Enhancers	NHDF-Ad	bronchial
43	chr6:2376800-2380600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:2376800-2389000	Weak transcription	Pancreas	Pancrea
45	chr6:2377000-2377400	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr6:2377000-2377400	Active TSS	Rectal Smooth Muscle	rectum
47	chr6:2377000-2377600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:2377000-2377800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:2377000-2377800	Flanking Active TSS	Osteobl	bone
50	chr6:2377000-2382600	Weak transcription	Gastric	stomach

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