Variant report

Variant	nsv1021464
Chromosome Location	chr6:82738920-82876526
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:25)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:82773916..82775814-chr6:82782251..82783759,2	K562	blood:
2	chr6:82746694..82748603-chr6:82759920..82762232,2	K562	blood:
3	chr6:82796494..82798103-chr6:82801117..82802958,2	K562	blood:
4	chr6:82754062..82756393-chr6:82759177..82761391,2	K562	blood:
5	chr6:82746694..82748603-chr6:82759920..82762232,2	K562	blood:
6	chr6:82796956..82799385-chr6:82802656..82805206,2	MCF-7	breast:
7	chr6:82461410..82463529-chr6:82749254..82751219,2	MCF-7	breast:
8	chr6:82796494..82798103-chr6:82801117..82802958,2	K562	blood:
9	chr6:82750012..82750752-chr6:82887553..82888336,3	MCF-7	breast:
10	chr6:82796956..82799385-chr6:82802656..82805206,2	MCF-7	breast:
11	chr6:82797370..82801181-chr6:82806554..82809565,3	MCF-7	breast:
12	chr6:82848559..82851621-chr6:82851762..82855023,3	MCF-7	breast:
13	chr6:82848559..82851621-chr6:82851762..82855023,3	MCF-7	breast:
14	chr6:82778476..82780369-chr6:82914765..82917473,2	K562	blood:
15	chr16:46723390..46724029-chr6:82839660..82840249,2	Hela-S3	cervix:
16	chr6:82772487..82775471-chr6:84042141..84044155,2	MCF-7	breast:
17	chr6:82754062..82756393-chr6:82759177..82761391,2	K562	blood:
18	chr6:82804324..82806563-chr6:82808458..82810667,2	K562	blood:
19	chr6:82689854..82690591-chr6:82750428..82751055,2	MCF-7	breast:
20	chr6:82828130..82829652-chr6:82830378..82832932,2	MCF-7	breast:
21	chr6:82773916..82775814-chr6:82782251..82783759,2	K562	blood:
22	chr6:82828130..82829652-chr6:82830378..82832932,2	MCF-7	breast:
23	chr17:56735007..56737964-chr6:82764892..82767185,2	MCF-7	breast:
24	chr6:82804324..82806563-chr6:82808458..82810667,2	K562	blood:
25	chr6:82797370..82801181-chr6:82806554..82809565,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM46A-2	chr6:82769303-82769401	NONHSAT113750
2	lnc-FAM46A-2	chr6:82781894-82781968	NONHSAT113750
3	lnc-FAM46A-2	chr6:82767656-82767724	NONHSAT113750
4	lnc-FAM46A-2	chr6:82811275-82811405	NONHSAT113750

No data

Variant related genes	Relation type
ENSG00000202077	chromatin interactions
ENSG00000091651	chromatin interactions
ENSG00000069329	chromatin interactions
ENSG00000112773	chromatin interactions
ENSG00000005700	chromatin interactions

Extended variants
information (count: 4821 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:4821 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191603010	chr6:82738922-82738923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1418305	chr6:82739004-82739005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532806707	chr6:82739056-82739057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552901199	chr6:82739094-82739095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182874289	chr6:82739106-82739107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1418304	chr6:82739118-82739119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548588742	chr6:82739200-82739201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552260888	chr6:82739360-82739361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568430910	chr6:82739409-82739410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534312320	chr6:82739430-82739431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373877324	chr6:82739477-82739478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148870796	chr6:82739520-82739521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146845222	chr6:82739565-82739566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530255516	chr6:82739572-82739573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377471518	chr6:82739609-82739610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570311732	chr6:82739629-82739630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539290924	chr6:82739631-82739632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139779921	chr6:82739677-82739678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575960032	chr6:82739684-82739685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs945855	chr6:82739863-82739864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs945856	chr6:82739880-82739881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548749965	chr6:82739914-82739915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12527587	chr6:82739944-82739945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541123597	chr6:82739987-82739988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376376014	chr6:82739991-82739992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77200673	chr6:82740112-82740113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144515821	chr6:82740114-82740115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375463836	chr6:82740146-82740147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372699914	chr6:82740207-82740208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146621959	chr6:82740208-82740209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140947197	chr6:82740227-82740228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532051410	chr6:82740241-82740242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575287423	chr6:82740271-82740272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150183961	chr6:82740273-82740274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534607482	chr6:82740340-82740341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113376427	chr6:82740366-82740367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533981408	chr6:82740367-82740368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148954343	chr6:82740389-82740390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527734258	chr6:82740401-82740402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547478632	chr6:82740412-82740413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117567211	chr6:82740421-82740422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570476106	chr6:82740445-82740446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549587837	chr6:82740467-82740468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59219161	chr6:82740541-82740542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185437247	chr6:82740543-82740544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138838060	chr6:82740606-82740607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142781237	chr6:82740610-82740611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556311158	chr6:82740615-82740616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367588560	chr6:82740683-82740684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534643971	chr6:82740694-82740695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82732400-82748600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:82733000-82740400	Weak transcription	HepG2	liver
3	chr6:82733200-82739800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:82733200-82743800	Weak transcription	HSMM	muscle
5	chr6:82733800-82740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:82734000-82739600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:82735600-82740200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:82735600-82740200	Weak transcription	NHDF-Ad	bronchial
9	chr6:82735600-82740600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:82736600-82739200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:82736600-82743200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:82737200-82739600	Weak transcription	HMEC	breast
13	chr6:82738600-82740800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:82739200-82740800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:82739200-82741400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:82739600-82740800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:82739600-82741000	Enhancers	HMEC	breast
18	chr6:82739800-82741000	Enhancers	NHEK	skin
19	chr6:82739800-82741600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:82739800-82741800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:82740000-82741000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:82740200-82740600	Enhancers	Brain Substantia Nigra	brain
23	chr6:82740200-82740600	Enhancers	Right Atrium	heart
24	chr6:82740200-82740600	Enhancers	NHDF-Ad	bronchial
25	chr6:82740200-82741000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:82740400-82740600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:82740400-82740600	Enhancers	Aorta	Aorta
28	chr6:82740400-82740600	Enhancers	Left Ventricle	heart
29	chr6:82740400-82740600	Enhancers	HepG2	liver
30	chr6:82740400-82740800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:82740400-82740800	Enhancers	HUVEC	blood vessel
32	chr6:82740400-82741000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:82740400-82741000	Enhancers	Brain Hippocampus Middle	brain
34	chr6:82740600-82740800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:82740600-82741000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:82740600-82743200	Weak transcription	NHDF-Ad	bronchial
37	chr6:82740600-82743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:82740600-82748600	Weak transcription	Left Ventricle	heart
39	chr6:82740600-82749400	Weak transcription	Right Atrium	heart
40	chr6:82740600-82750200	Weak transcription	HepG2	liver
41	chr6:82740800-82741200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:82740800-82741200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:82740800-82743400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:82741000-82743600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:82741000-82743600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:82741000-82744200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:82741200-82742200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:82741200-82742600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:82741400-82741600	Enhancers	Fetal Muscle Leg	muscle
50	chr6:82741400-82743400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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