Variant report

Variant	nsv1022514
Chromosome Location	chr6:26695219-26768557
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:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

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:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABT1-6	chr6:26710940-26711798	ucscGeneNc_uc010jqm_1
2	lnc-ABT1-6	chr6:26712863-26714864	ucscGeneNc_uc010jqm_1
3	lnc-ABT1-4	chr6:26752185-26752237	XLOC_005215
4	lnc-ABT1-4	chr6:26728058-26728148	XLOC_005215
5	lnc-ABT1-4	chr6:26724185-26724429	XLOC_005215

No data

Extended variants
information (count: 1710 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1710 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557119986	chr6:26697240-26697241	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs113970005	chr6:26697279-26697280	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs202057981	chr6:26697343-26697344	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs200156010	chr6:26697346-26697347	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs573902444	chr6:26697418-26697419	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542674339	chr6:26697489-26697490	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553068057	chr6:26697522-26697523	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547160148	chr6:26697553-26697554	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs545053393	chr6:26697559-26697560	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565315618	chr6:26697593-26697594	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533068647	chr6:26697594-26697595	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543747877	chr6:26697633-26697634	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563426378	chr6:26697681-26697682	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529109251	chr6:26697695-26697696	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549064490	chr6:26697717-26697718	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375915156	chr6:26697906-26697907	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565801648	chr6:26697909-26697910	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528215544	chr6:26697949-26697950	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568346952	chr6:26697985-26697986	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571260505	chr6:26698016-26698017	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537339387	chr6:26698164-26698165	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557244182	chr6:26698220-26698221	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6931479	chr6:26698235-26698236	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567487425	chr6:26698254-26698255	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535733594	chr6:26698317-26698318	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs5875119	chr6:26698318-26698319	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536473211	chr6:26698353-26698354	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553180638	chr6:26698358-26698359	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573241751	chr6:26698437-26698438	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565127248	chr6:26698444-26698445	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530469633	chr6:26698480-26698481	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558678801	chr6:26698546-26698547	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs575599371	chr6:26698582-26698583	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs58498570	chr6:26698596-26698597	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2504607	chr6:26698700-26698701	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568486644	chr6:26698728-26698729	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563589475	chr6:26698731-26698732	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573851540	chr6:26698735-26698736	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542819117	chr6:26698767-26698768	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372787016	chr6:26698854-26698855	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs559618242	chr6:26698859-26698860	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs528163057	chr6:26698942-26698943	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs372841570	chr6:26698968-26698969	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs551499201	chr6:26699028-26699029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564687681	chr6:26699045-26699046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530544924	chr6:26699046-26699047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373692769	chr6:26699052-26699053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199925467	chr6:26699057-26699058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567600734	chr6:26699072-26699073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536583239	chr6:26699121-26699122	Weak transcription	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:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26697200-26697400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
2	chr6:26697400-26697600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:26697600-26697800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
4	chr6:26697600-26697800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr6:26697600-26698200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr6:26697600-26698600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:26697600-26698600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:26697600-26698600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:26697600-26699000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:26697800-26698000	Enhancers	HMEC	breast
11	chr6:26697800-26698400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:26697800-26698600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:26697800-26698600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:26698000-26698200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:26698000-26698200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:26698000-26698400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:26698000-26698400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:26698000-26698400	Active TSS	HMEC	breast
19	chr6:26698000-26698400	Active TSS	Osteobl	bone
20	chr6:26698000-26698600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:26698000-26698600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:26698000-26698800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr6:26698000-26698800	Bivalent/Poised TSS	NHEK	skin
24	chr6:26698200-26698400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
25	chr6:26698200-26698400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:26698200-26698400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr6:26698200-26698400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:26698200-26698400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:26698200-26698400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:26698200-26698400	Bivalent Enhancer	Brain Angular Gyrus	brain
31	chr6:26698200-26698400	Bivalent Enhancer	Left Ventricle	heart
32	chr6:26698200-26698400	Enhancers	Pancreas	Pancrea
33	chr6:26698200-26698800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr6:26698200-26698800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:26698200-26698800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:26698200-26698800	Bivalent/Poised TSS	NHDF-Ad	bronchial
37	chr6:26698400-26698600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr6:26698400-26698600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:26698400-26698600	Bivalent/Poised TSS	Osteobl	bone
40	chr6:26698400-26698800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:26698400-26698800	Enhancers	HMEC	breast
42	chr6:26698400-26701400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:26698600-26698800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:26698600-26698800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr6:26698600-26698800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:26698600-26698800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr6:26698600-26698800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr6:26698600-26698800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr6:26698600-26698800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:26698600-26698800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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