Variant report

Variant	nsv883481
Chromosome Location	chr6:24652247-24659071
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24657655..24659922-chr6:24720349..24722391,2	K562	blood:
2	chr6:24645396..24648521-chr6:24658092..24661192,3	K562	blood:
3	chr6:24652620..24654640-chr6:24655230..24656838,2	K562	blood:
4	chr6:24657843..24659411-chr6:26030183..26032461,2	K562	blood:
5	chr6:24652620..24654640-chr6:24655230..24656838,2	K562	blood:
6	chr6:24650977..24653487-chr6:24654406..24656645,3	MCF-7	breast:
7	chr6:24653989..24657091-chr6:24719747..24721924,3	MCF-7	breast:
8	chr6:24653780..24658008-chr6:24658421..24664116,7	MCF-7	breast:
9	chr6:24652247..24658784-chr6:24665384..24668018,7	MCF-7	breast:
10	chr6:24645670..24648708-chr6:24654981..24659486,5	MCF-7	breast:
11	chr6:24645396..24648552-chr6:24658188..24661192,4	K562	blood:
12	chr6:24650977..24653487-chr6:24654406..24656645,3	MCF-7	breast:
13	chr6:24654228..24658025-chr6:24716632..24719423,3	K562	blood:
14	chr6:24651935..24653772-chr6:44213689..44215301,2	MCF-7	breast:
15	chr6:24653409..24658053-chr6:24717441..24721188,4	MCF-7	breast:
16	chr6:24645419..24648668-chr6:24649660..24654397,7	K562	blood:
17	chr6:24644203..24646922-chr6:24652041..24654652,3	MCF-7	breast:
18	chr6:24645187..24649410-chr6:24651412..24654746,5	K562	blood:
19	chr6:24650945..24654399-chr6:24657634..24660021,4	K562	blood:
20	chr6:24656525..24658806-chr6:24716394..24719369,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112304	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000112308	chromatin interactions
ENSG00000137261	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000111802	chromatin interactions

Extended variants
information (count: 262 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17243409	chr6:24652247-24652248	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs572947900	chr6:24652345-24652346	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs150757671	chr6:24652393-24652394	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs545018063	chr6:24652459-24652460	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs565012883	chr6:24652465-24652466	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs370974576	chr6:24652620-24652621	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs139013425	chr6:24652624-24652625	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs13213627	chr6:24652666-24652667	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs199898210	chr6:24652674-24652675	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs16901739	chr6:24652677-24652678	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs17243585	chr6:24652679-24652680	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546879508	chr6:24652735-24652736	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs143879282	chr6:24652745-24652746	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs17249771	chr6:24652788-24652789	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2294691	chr6:24652843-24652844	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189267365	chr6:24652846-24652847	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs2294690	chr6:24652879-24652880	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs17243578	chr6:24652886-24652887	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs3830786	chr6:24652898-24652899	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs374020422	chr6:24652899-24652900	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs17243395	chr6:24652951-24652952	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs377298722	chr6:24652952-24652953	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs554738801	chr6:24652964-24652965	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs17249959	chr6:24652967-24652968	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs376463711	chr6:24652968-24652969	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs574994820	chr6:24652973-24652974	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs180748175	chr6:24653023-24653024	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs17243388	chr6:24653083-24653084	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs577601258	chr6:24653157-24653158	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs145663114	chr6:24653164-24653165	Strong transcription Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs17249952	chr6:24653215-24653216	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376099598	chr6:24653223-24653224	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs199941419	chr6:24653259-24653260	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs2294689	chr6:24653273-24653274	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11559067	chr6:24653283-24653284	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs199499565	chr6:24653307-24653308	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs375948102	chr6:24653314-24653315	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs149606674	chr6:24653370-24653371	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs1129644	chr6:24653376-24653377	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs1129643	chr6:24653382-24653383	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs369498680	chr6:24653384-24653385	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs374270370	chr6:24653386-24653387	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs529904089	chr6:24653391-24653392	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs540037026	chr6:24653397-24653398	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs560058757	chr6:24653438-24653439	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs532261526	chr6:24653444-24653445	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs3181239	chr6:24653456-24653457	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs568933062	chr6:24653475-24653476	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs186383121	chr6:24653489-24653490	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs548673779	chr6:24653496-24653497	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24646400-24658800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:24646600-24655800	Weak transcription	Aorta	Aorta
3	chr6:24646800-24652400	Weak transcription	Fetal Lung	lung
4	chr6:24646800-24652600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:24646800-24652600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:24646800-24653000	Weak transcription	HSMMtube	muscle
7	chr6:24646800-24653200	Weak transcription	Fetal Brain Male	brain
8	chr6:24646800-24653200	Weak transcription	Gastric	stomach
9	chr6:24646800-24655600	Weak transcription	Pancreas	Pancrea
10	chr6:24646800-24662400	Weak transcription	Right Ventricle	heart
11	chr6:24646800-24662600	Weak transcription	Spleen	Spleen
12	chr6:24646800-24666000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:24647000-24652400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:24647000-24653000	Weak transcription	HUVEC	blood vessel
15	chr6:24647000-24653200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:24647000-24659000	Weak transcription	Stomach Mucosa	stomach
17	chr6:24647000-24662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:24647000-24662400	Weak transcription	Lung	lung
19	chr6:24647000-24662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:24647000-24666400	Weak transcription	Esophagus	oesophagus
21	chr6:24647200-24652400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:24647200-24652600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:24647200-24652800	Weak transcription	HMEC	breast
24	chr6:24647200-24663400	Weak transcription	Fetal Kidney	kidney
25	chr6:24649400-24654200	Strong transcription	Primary T cells from cord blood	blood
26	chr6:24649400-24654600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:24649400-24654800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:24649400-24656600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:24649400-24659200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:24649400-24659600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:24649400-24664800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:24649400-24665200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:24649800-24654800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr6:24649800-24655600	Strong transcription	Fetal Thymus	thymus
35	chr6:24649800-24656200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:24650000-24653200	Strong transcription	Fetal Intestine Large	intestine
37	chr6:24650000-24654000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:24650000-24654200	Strong transcription	Brain Hippocampus Middle	brain
39	chr6:24650000-24657400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:24650000-24657400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr6:24650000-24658400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:24650000-24658400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr6:24650000-24658600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr6:24650000-24659000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:24650000-24663600	Strong transcription	Dnd41	blood
46	chr6:24650000-24665000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:24650200-24653400	Strong transcription	HepG2	liver
48	chr6:24650200-24654400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:24650200-24654400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr6:24650200-24654600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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