Variant report

Variant	nsv1027774
Chromosome Location	chr6:26737020-26783655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26757504..26759544-chr6:26759829..26761345,2	K562	blood:
2	chr6:26569878..26572045-chr6:26757682..26759933,2	K562	blood:
3	chr6:26757504..26759544-chr6:26759829..26761345,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABT1-4	chr6:26752185-26752237	XLOC_005215

Extended variants
information (count: 1348 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1348 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59598507	chr6:26739200-26739201	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs77972091	chr6:26739223-26739224	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs79042982	chr6:26739241-26739242	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572601576	chr6:26739250-26739251	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376846180	chr6:26739254-26739255	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113621737	chr6:26739256-26739257	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs199939184	chr6:26739261-26739262	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62394780	chr6:26739269-26739270	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371543090	chr6:26739312-26739313	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs545654766	chr6:26739318-26739319	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538350990	chr6:26739319-26739320	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs62394781	chr6:26739349-26739350	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs62394782	chr6:26739361-26739362	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560623409	chr6:26739364-26739365	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558091176	chr6:26739377-26739378	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575148367	chr6:26739389-26739390	Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527241667	chr6:26739426-26739427	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs111545775	chr6:26739450-26739451	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201780973	chr6:26739451-26739452	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs34073492	chr6:26739452-26739453	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77001412	chr6:26739454-26739455	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561403415	chr6:26739476-26739477	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2451748	chr6:26739479-26739480	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs35144506	chr6:26739487-26739488	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs560711157	chr6:26739492-26739493	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs79251699	chr6:26739494-26739495	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs77900453	chr6:26739498-26739499	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs79852123	chr6:26739508-26739509	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs72845532	chr6:26739528-26739529	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs67406530	chr6:26739558-26739559	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs67954566	chr6:26739563-26739564	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs72845537	chr6:26739586-26739587	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs72845538	chr6:26739592-26739593	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532601167	chr6:26739605-26739606	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs77232477	chr6:26739626-26739627	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs75640370	chr6:26739627-26739628	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs62635539	chr6:26739642-26739643	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552711375	chr6:26739665-26739666	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562865155	chr6:26739667-26739668	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs531628202	chr6:26739677-26739678	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs62635540	chr6:26739687-26739688	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs548590870	chr6:26739701-26739702	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567431900	chr6:26739706-26739707	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530051142	chr6:26739715-26739716	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs6456752	chr6:26739725-26739726	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs28580475	chr6:26739727-26739728	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs72845540	chr6:26739732-26739733	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs62635541	chr6:26739748-26739749	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74926376	chr6:26739799-26739800	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541333686	chr6:26739800-26739801	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26739200-26739400	Bivalent Enhancer	Fetal Heart	heart
2	chr6:26739200-26740600	Bivalent/Poised TSS	Fetal Lung	lung
3	chr6:26739400-26739800	Flanking Bivalent TSS/Enh	Fetal Heart	heart
4	chr6:26739400-26740200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr6:26739400-26740200	ZNF genes & repeats	Fetal Kidney	kidney
6	chr6:26739400-26740400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
7	chr6:26739600-26740000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
8	chr6:26739600-26740200	ZNF genes & repeats	Gastric	stomach
9	chr6:26739600-26740400	ZNF genes & repeats	Pancreas	Pancrea
10	chr6:26739600-26740600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:26739600-26740600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:26739800-26740600	Bivalent/Poised TSS	Fetal Heart	heart
13	chr6:26740200-26741400	Weak transcription	Fetal Kidney	kidney
14	chr6:26740600-26745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:26743200-26743800	Bivalent/Poised TSS	A549	lung
16	chr6:26743400-26744000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
18	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:26743600-26743800	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	Ovary	ovary
24	chr6:26743600-26743800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr6:26743600-26743800	Bivalent/Poised TSS	HUVEC	blood vessel
26	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	Osteobl	bone
27	chr6:26743600-26744000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr6:26743600-26744000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr6:26743600-26744000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:26743600-26744000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:26743600-26744000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr6:26743600-26744000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:26743600-26744000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:26743600-26744000	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
35	chr6:26743600-26744000	Active TSS	NHLF	lung
36	chr6:26743800-26744000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:26743800-26744000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:26743800-26744000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:26743800-26744000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr6:26743800-26744000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr6:26743800-26744000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:26743800-26744000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
43	chr6:26743800-26744000	Bivalent/Poised TSS	Psoas Muscle	Psoas
44	chr6:26743800-26744000	Enhancers	NHEK	skin
45	chr6:26744000-26745200	Weak transcription	NHLF	lung
46	chr6:26745000-26745200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:26745000-26745200	Weak transcription	Ovary	ovary
48	chr6:26745000-26745800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr6:26745000-26745800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:26745000-26747600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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