Variant report

Variant	nsv427746
Chromosome Location	chr6:24221299-24305709
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:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24064087..24064968-chr6:24274253..24275166,4	MCF-7	breast:
2	chr6:24284969..24286871-chr6:24287249..24289411,2	K562	blood:
3	chr6:24283315..24283877-chr6:24386876..24387657,2	MCF-7	breast:
4	chr6:24283175..24284815-chr6:24359561..24361041,12	MCF-7	breast:
5	chr6:24227048..24229838-chr6:24232947..24235192,3	MCF-7	breast:
6	chr6:24281828..24284999-chr6:24354828..24358110,4	MCF-7	breast:
7	chr6:24282573..24285599-chr6:24386965..24389138,3	K562	blood:
8	chr6:24296405..24298599-chr6:24356483..24358292,2	MCF-7	breast:
9	chr6:24300610..24302658-chr6:24304913..24307230,2	K562	blood:
10	chr6:24282963..24283844-chr6:24390234..24391089,2	MCF-7	breast:
11	chr2:27975663..27977843-chr6:24284070..24286827,2	MCF-7	breast:
12	chr6:24273970..24276179-chr6:24277278..24279820,2	MCF-7	breast:
13	chr6:24227048..24229838-chr6:24232947..24235192,3	MCF-7	breast:
14	chr6:24255591..24257223-chr6:24261586..24264170,2	K562	blood:
15	chr6:24282520..24284715-chr6:24405070..24407671,2	MCF-7	breast:
16	chr6:24283098..24284101-chr6:24385382..24386702,5	MCF-7	breast:
17	chr6:24233307..24235925-chr6:24236144..24238830,3	K562	blood:
18	chr6:24281863..24285014-chr6:24356615..24360077,4	MCF-7	breast:
19	chr6:24225725..24227793-chr6:24228991..24230838,2	K562	blood:
20	chr6:24282327..24284460-chr6:24388227..24391209,2	MCF-7	breast:
21	chr6:24300610..24302658-chr6:24304913..24307230,2	K562	blood:
22	chr6:24283299..24283971-chr6:24417287..24417853,2	MCF-7	breast:
23	chr6:24282882..24283800-chr6:24521072..24521695,2	K562	blood:
24	chr6:24284945..24286564-chr6:24287420..24288953,2	MCF-7	breast:
25	chr6:24233307..24235925-chr6:24236144..24238830,3	K562	blood:
26	chr6:24282956..24283866-chr6:24389181..24390147,5	K562	blood:
27	chr6:24281775..24284260-chr6:24359000..24360636,2	MCF-7	breast:
28	chr6:24225725..24227793-chr6:24228991..24230838,2	K562	blood:
29	chr6:24282475..24284958-chr6:24289359..24291059,2	K562	blood:
30	chr6:24283208..24284031-chr6:24389181..24390289,7	MCF-7	breast:
31	chr6:24287973..24290756-chr6:24353984..24356227,2	MCF-7	breast:
32	chr6:24301531..24305214-chr6:24307233..24312896,5	K562	blood:
33	chr6:24283443..24284074-chr6:24357652..24358224,2	MCF-7	breast:
34	chr6:24255591..24257223-chr6:24261586..24264170,2	K562	blood:
35	chr6:24284969..24286871-chr6:24287249..24289411,2	K562	blood:
36	chr6:24283118..24284052-chr6:25602734..25603362,2	K562	blood:
37	chr6:24282939..24284070-chr6:24389118..24390156,6	MCF-7	breast:
38	chr6:24284945..24286564-chr6:24287420..24288953,2	MCF-7	breast:
39	chr6:24282475..24284958-chr6:24289359..24291059,2	K562	blood:
40	chr6:24273970..24276179-chr6:24277278..24279820,2	MCF-7	breast:
41	chr6:24282990..24283576-chr6:24521142..24521868,2	MCF-7	breast:
42	chr6:24064474..24065410-chr6:24274945..24275686,3	MCF-7	breast:
43	chr6:24283548..24284090-chr6:24306542..24307531,2	MCF-7	breast:
44	chr6:23176286..23178062-chr6:24249606..24251613,2	K562	blood:
45	chr6:24282994..24284064-chr6:24359605..24360545,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146049	chromatin interactions
ENSG00000146038	chromatin interactions

Extended variants
information (count: 3491 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3491 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535202550	chr6:24221313-24221314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558362190	chr6:24221314-24221315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578234715	chr6:24221317-24221318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11758909	chr6:24221368-24221369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537339644	chr6:24221369-24221370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180902280	chr6:24221407-24221408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140030269	chr6:24221459-24221460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62403468	chr6:24221468-24221469	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561414921	chr6:24221469-24221470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571784294	chr6:24221470-24221471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146059218	chr6:24221475-24221476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77553820	chr6:24221499-24221500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563932188	chr6:24221505-24221506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11962116	chr6:24221523-24221524	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs72828998	chr6:24221527-24221528	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs539810294	chr6:24221539-24221540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563612382	chr6:24221553-24221554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185833611	chr6:24221587-24221588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549420667	chr6:24221616-24221617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200040583	chr6:24221627-24221628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143451888	chr6:24221638-24221639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535107861	chr6:24221647-24221648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551950065	chr6:24221659-24221660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72828999	chr6:24221692-24221693	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191473669	chr6:24221697-24221698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181399128	chr6:24221698-24221699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185379256	chr6:24221712-24221713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536572199	chr6:24221719-24221720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115145513	chr6:24221721-24221722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151216089	chr6:24221735-24221736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114079834	chr6:24221737-24221738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563842105	chr6:24221750-24221751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1770461	chr6:24221805-24221806	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554124704	chr6:24221814-24221815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569653537	chr6:24221817-24221818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543618716	chr6:24221819-24221820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553033745	chr6:24221820-24221821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563410995	chr6:24221824-24221825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538076802	chr6:24221828-24221829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1770906	chr6:24221888-24221889	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559775095	chr6:24221902-24221903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528495619	chr6:24221903-24221904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11966291	chr6:24221967-24221968	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555253237	chr6:24221997-24221998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72830803	chr6:24222038-24222039	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140410839	chr6:24222049-24222050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1770907	chr6:24222061-24222062	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536537691	chr6:24222066-24222067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1770908	chr6:24222067-24222068	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565290791	chr6:24222073-24222074	Weak transcription Strong transcription	n/a	n/a	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:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24199400-24224600	Weak transcription	Pancreas	Pancrea
2	chr6:24206200-24231400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:24206800-24227600	Weak transcription	Fetal Kidney	kidney
4	chr6:24214600-24235400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:24217800-24231600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:24221200-24222200	Strong transcription	HepG2	liver
7	chr6:24222200-24223800	Weak transcription	HepG2	liver
8	chr6:24223800-24224800	Genic enhancers	HepG2	liver
9	chr6:24224600-24225000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:24224600-24225000	Enhancers	Pancreas	Pancrea
11	chr6:24224800-24228800	Strong transcription	HepG2	liver
12	chr6:24225000-24229000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:24225000-24229200	Weak transcription	Pancreas	Pancrea
14	chr6:24226600-24227000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:24226800-24227000	Enhancers	Brain Germinal Matrix	brain
16	chr6:24226800-24229600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:24227000-24227600	Weak transcription	Brain Germinal Matrix	brain
18	chr6:24227000-24227800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:24227000-24228800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:24227000-24230400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:24227200-24229200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:24227400-24227600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:24227600-24227800	Enhancers	Ovary	ovary
24	chr6:24227600-24229000	Enhancers	Brain Germinal Matrix	brain
25	chr6:24227600-24229200	Enhancers	Brain Anterior Caudate	brain
26	chr6:24227600-24229400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:24227600-24229400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:24227600-24229400	Enhancers	Fetal Kidney	kidney
29	chr6:24227600-24229600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:24227800-24228200	Enhancers	Brain Hippocampus Middle	brain
31	chr6:24227800-24229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:24227800-24229000	Weak transcription	Ovary	ovary
33	chr6:24227800-24229400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:24227800-24229600	Enhancers	Fetal Lung	lung
35	chr6:24228000-24228400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr6:24228000-24228600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:24228000-24228800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:24228000-24229200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:24228000-24229200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr6:24228000-24229200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:24228000-24229200	Enhancers	Fetal Stomach	stomach
42	chr6:24228000-24229400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:24228000-24229600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:24228000-24229600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:24228200-24229200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:24228400-24228800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:24228400-24229400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr6:24228400-24229800	Enhancers	NHDF-Ad	bronchial
49	chr6:24228400-24230000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:24228400-24230600	Enhancers	Primary monocytes fromperipheralblood	blood

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