Variant report

Variant	nsv884062
Chromosome Location	chr6:30237454-30256838
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:18)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30239562..30242228-chr6:30254581..30256565,2	K562	blood:
2	chr6:30252759..30255238-chr6:30259502..30262468,2	MCF-7	breast:
3	chr6:30238831..30239507-chrX:112993035..112993630,2	MCF-7	breast:
4	chr6:30253591..30255110-chr6:30268518..30271237,2	K562	blood:
5	chr6:30233837..30236152-chr6:30240056..30242630,2	MCF-7	breast:
6	chr6:30254447..30256446-chr6:30257313..30259885,2	K562	blood:
7	chr6:30256199..30257917-chr6:30272778..30275298,2	MCF-7	breast:
8	chr6:30239562..30242228-chr6:30254581..30256565,2	K562	blood:
9	chr6:30253777..30255721-chr6:30311555..30314145,2	K562	blood:
10	chr6:30233530..30235918-chr6:30253137..30255680,2	K562	blood:
11	chr6:30237407..30239197-chr6:30252856..30255574,2	K562	blood:
12	chr6:30237407..30239197-chr6:30252856..30255574,2	K562	blood:
13	chr6:30179598..30181245-chr6:30238787..30241131,2	MCF-7	breast:
14	chr6:30233853..30235858-chr6:30238091..30240138,2	K562	blood:
15	chr6:30253881..30256754-chr6:30260097..30262848,2	K562	blood:
16	chr6:30247937..30250793-chr6:30252677..30256148,3	MCF-7	breast:
17	chr6:30238145..30240956-chr6:30290362..30292756,2	MCF-7	breast:
18	chr6:30247937..30250793-chr6:30252677..30256148,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM26-2	chr6:30255174-30257149	ENSG00000231074.4
2	lnc-TRIM26-2	chr6:30255174-30257271	NONHSAT108617
3	lnc-TRIM26-2	chr6:30255386-30257271	NONHSAT108618
4	lnc-TRIM26-2	chr6:30255852-30257271	NONHSAT108619

No data

Variant related genes	Relation type
ENSG00000231074	chromatin interactions
ENSG00000234127	chromatin interactions
ENSG00000241370	chromatin interactions

Extended variants
information (count: 451 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2844761	chr6:30237454-30237455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs28994664	chr6:30237460-30237461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544849142	chr6:30237504-30237505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565070974	chr6:30237520-30237521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535625791	chr6:30237577-30237578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562099405	chr6:30237593-30237594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201172727	chr6:30237819-30237820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527767765	chr6:30237858-30237859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9261639	chr6:30237859-30237860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2844760	chr6:30237861-30237862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs546625988	chr6:30237909-30237910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191655440	chr6:30237922-30237923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182722568	chr6:30237969-30237970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558193922	chr6:30237987-30237988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546610603	chr6:30238007-30238008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114893123	chr6:30238048-30238049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558866016	chr6:30238102-30238103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77180463	chr6:30238150-30238151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556989128	chr6:30238185-30238186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573805970	chr6:30238228-30238229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577811361	chr6:30238270-30238271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542579428	chr6:30238282-30238283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552972123	chr6:30238293-30238294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115784330	chr6:30238424-30238425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535360948	chr6:30238451-30238452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553229496	chr6:30238458-30238459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139697952	chr6:30238498-30238499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185590855	chr6:30238554-30238555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9368628	chr6:30238559-30238560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs116037546	chr6:30238581-30238582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141774025	chr6:30238622-30238623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150600515	chr6:30238706-30238707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560922016	chr6:30238742-30238743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375804309	chr6:30238744-30238745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139687439	chr6:30238747-30238748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190158195	chr6:30238851-30238852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560071719	chr6:30238876-30238877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2844759	chr6:30238884-30238885	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs149761109	chr6:30238905-30238906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571893275	chr6:30238982-30238983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79129161	chr6:30239001-30239002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550777852	chr6:30239110-30239111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182416882	chr6:30239128-30239129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187833690	chr6:30239170-30239171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553227965	chr6:30239191-30239192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573183029	chr6:30239270-30239271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530869596	chr6:30239328-30239329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs193150899	chr6:30239411-30239412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183868625	chr6:30239481-30239482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575456472	chr6:30239503-30239504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
Cancer	16790693	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
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30228400-30238000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:30228400-30238200	Weak transcription	Left Ventricle	heart
3	chr6:30228400-30239600	Weak transcription	HepG2	liver
4	chr6:30228400-30239800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:30231600-30239600	Weak transcription	Brain Angular Gyrus	brain
6	chr6:30233200-30243600	Weak transcription	HSMMtube	muscle
7	chr6:30233800-30241200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:30237200-30243400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:30239600-30240400	Enhancers	HepG2	liver
10	chr6:30239800-30240200	Enhancers	Colon Smooth Muscle	Colon
11	chr6:30241200-30241400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:30241200-30241800	Enhancers	Fetal Lung	lung
13	chr6:30241600-30241800	Bivalent Enhancer	HUVEC	blood vessel
14	chr6:30243800-30244000	Enhancers	HSMMtube	muscle
15	chr6:30247400-30253000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:30247600-30262400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:30247800-30249000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr6:30247800-30249600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr6:30248400-30251600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr6:30248400-30253400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:30248400-30255600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:30248600-30254000	ZNF genes & repeats	Liver	Liver
23	chr6:30248800-30251400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr6:30250400-30252600	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr6:30250600-30252200	ZNF genes & repeats	Fetal Brain Female	brain
26	chr6:30250600-30252800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr6:30251000-30251200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
28	chr6:30251200-30252000	ZNF genes & repeats	Aorta	Aorta
29	chr6:30251200-30252400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr6:30251200-30252400	ZNF genes & repeats	Brain Anterior Caudate	brain
31	chr6:30251200-30252600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr6:30251200-30253000	ZNF genes & repeats	Brain Hippocampus Middle	brain
33	chr6:30251400-30251800	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr6:30251400-30251800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:30251400-30252400	ZNF genes & repeats	Brain Angular Gyrus	brain
36	chr6:30251600-30252000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:30251600-30252000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:30251600-30252800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr6:30251800-30252000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr6:30252200-30262600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr6:30252600-30253000	ZNF genes & repeats	Brain Angular Gyrus	brain
42	chr6:30252600-30253000	ZNF genes & repeats	Psoas Muscle	Psoas
43	chr6:30252800-30256600	Weak transcription	A549	lung
44	chr6:30253000-30256400	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:30253000-30256600	Weak transcription	Brain Angular Gyrus	brain
46	chr6:30253000-30259400	Weak transcription	Psoas Muscle	Psoas
47	chr6:30253200-30256000	Weak transcription	HSMMtube	muscle
48	chr6:30253200-30256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:30253200-30256400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:30253200-30256400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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