Variant report

Variant	nsv980117
Chromosome Location	chr4:8535043-8545141
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8483624..8484422-chr4:8535583..8536138,2	MCF-7	breast:
2	chr4:8544480..8546948-chr4:8548054..8550987,2	K562	blood:
3	chr4:8538338..8543611-chr4:8548493..8553766,7	MCF-7	breast:
4	chr4:8534257..8535987-chr4:8582200..8584204,2	MCF-7	breast:
5	chr4:8519832..8523485-chr4:8533626..8535724,3	MCF-7	breast:
6	chr4:8531043..8532660-chr4:8536787..8539068,2	K562	blood:
7	chr4:8480343..8482118-chr4:8533933..8535799,2	MCF-7	breast:
8	chr4:8495654..8498484-chr4:8534530..8537327,2	MCF-7	breast:
9	chr4:8535273..8538017-chr4:8547280..8549775,3	MCF-7	breast:
10	chr4:8534354..8538693-chr4:8538746..8544060,9	MCF-7	breast:
11	chr4:8473542..8475287-chr4:8537371..8538949,2	MCF-7	breast:
12	chr4:8521151..8523574-chr4:8535830..8537925,2	MCF-7	breast:
13	chr4:8534354..8538693-chr4:8538746..8544060,9	MCF-7	breast:
14	chr4:8535864..8537447-chr4:8555763..8557535,2	MCF-7	breast:
15	chr4:8527606..8529161-chr4:8536192..8537693,2	MCF-7	breast:
16	chr4:8542415..8545187-chr4:8582095..8584312,2	MCF-7	breast:
17	chr4:8542053..8545358-chr4:8547295..8551816,4	MCF-7	breast:
18	chr4:8469952..8472230-chr4:8539162..8541122,2	MCF-7	breast:
19	chr4:8537532..8539229-chr4:8550769..8552595,2	MCF-7	breast:
20	chr4:8499557..8501918-chr4:8533819..8536050,2	MCF-7	breast:
21	chr4:8541623..8544258-chr4:8557872..8560632,2	K562	blood:
22	chr4:8544571..8547692-chr4:8551879..8553723,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155269	chromatin interactions
ENSG00000155275	chromatin interactions
ENSG00000205959	chromatin interactions

Extended variants
information (count: 520 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550924379	chr4:8535062-8535063	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536531303	chr4:8535098-8535099	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554878569	chr4:8535100-8535101	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146001029	chr4:8535122-8535123	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533316952	chr4:8535164-8535165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551665329	chr4:8535166-8535167	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566774634	chr4:8535176-8535177	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138615857	chr4:8535188-8535189	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555720569	chr4:8535201-8535202	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567687457	chr4:8535208-8535209	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538315225	chr4:8535242-8535243	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556665043	chr4:8535259-8535260	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576110900	chr4:8535263-8535264	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185128274	chr4:8535265-8535266	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs67056522	chr4:8535287-8535288	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201052527	chr4:8535293-8535294	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199583178	chr4:8535294-8535295	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs57004541	chr4:8535299-8535300	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557795645	chr4:8535300-8535301	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191696267	chr4:8535313-8535314	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs869600	chr4:8535364-8535365	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200063850	chr4:8535369-8535370	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs869602	chr4:8535371-8535372	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs149295051	chr4:8535389-8535390	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540977141	chr4:8535403-8535404	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144303100	chr4:8535408-8535409	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148737593	chr4:8535409-8535410	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144638699	chr4:8535447-8535448	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs28630902	chr4:8535462-8535463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28410871	chr4:8535463-8535464	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551554003	chr4:8535481-8535482	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147447710	chr4:8535487-8535488	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113133238	chr4:8535507-8535508	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140198048	chr4:8535508-8535509	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112284097	chr4:8535566-8535567	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573193536	chr4:8535568-8535569	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537816070	chr4:8535576-8535577	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs16842480	chr4:8535621-8535622	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs199731257	chr4:8535662-8535663	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113685099	chr4:8535682-8535683	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111310821	chr4:8535688-8535689	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs145609123	chr4:8535704-8535705	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539686793	chr4:8535712-8535713	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs16842483	chr4:8535713-8535714	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs368240864	chr4:8535724-8535725	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs573086023	chr4:8535737-8535738	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs151114770	chr4:8535740-8535741	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs555341483	chr4:8535745-8535746	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113312864	chr4:8535753-8535754	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs571715583	chr4:8535772-8535773	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8528200-8535600	Weak transcription	Ovary	ovary
2	chr4:8532400-8535800	Weak transcription	NHDF-Ad	bronchial
3	chr4:8532600-8542800	Enhancers	Placenta	Placenta
4	chr4:8533200-8542800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:8533600-8537400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:8533800-8537800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:8534000-8535600	Weak transcription	Fetal Kidney	kidney
8	chr4:8534200-8535200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:8534200-8535600	Weak transcription	HSMMtube	muscle
10	chr4:8534400-8535400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:8534400-8535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:8534600-8535600	Enhancers	GM12878-XiMat	blood
13	chr4:8534600-8536000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:8534800-8535600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:8534800-8535600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:8534800-8536800	Weak transcription	Fetal Thymus	thymus
17	chr4:8535000-8535600	Enhancers	Stomach Mucosa	stomach
18	chr4:8535000-8535600	Enhancers	NHEK	skin
19	chr4:8535000-8535800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:8535000-8536600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:8535000-8537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:8535000-8537200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:8535000-8541600	Enhancers	Pancreas	Pancrea
24	chr4:8535200-8536600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:8535200-8536800	Enhancers	Fetal Intestine Small	intestine
26	chr4:8535200-8537400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr4:8535200-8537400	Enhancers	Fetal Intestine Large	intestine
28	chr4:8535200-8538600	Enhancers	Colon Smooth Muscle	Colon
29	chr4:8535400-8535600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:8535400-8535600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:8535400-8535600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr4:8535400-8535800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:8535400-8535800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:8535400-8536000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:8535400-8536800	Enhancers	HMEC	breast
36	chr4:8535600-8535800	Enhancers	Duodenum Mucosa	Duodenum
37	chr4:8535600-8535800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr4:8535600-8535800	Enhancers	Stomach Smooth Muscle	stomach
39	chr4:8535600-8536000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr4:8535600-8536000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr4:8535600-8536000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:8535600-8536000	Enhancers	Colonic Mucosa	Colon
43	chr4:8535600-8536000	Enhancers	Fetal Lung	lung
44	chr4:8535600-8536000	Enhancers	Gastric	stomach
45	chr4:8535600-8536000	Enhancers	Ovary	ovary
46	chr4:8535600-8536000	Flanking Active TSS	Stomach Mucosa	stomach
47	chr4:8535600-8536000	Flanking Active TSS	GM12878-XiMat	blood
48	chr4:8535600-8536200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:8535600-8536200	Enhancers	Esophagus	oesophagus
50	chr4:8535600-8536200	Flanking Active TSS	NHEK	skin

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