Variant report

Variant	nsv947137
Chromosome Location	chr1:180531647-180537166
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:17)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180533968..180536726-chr1:180538113..180540061,3	MCF-7	breast:
2	chr1:180529943..180534795-chr1:180578153..180581956,5	K562	blood:
3	chr1:180530082..180533605-chr1:180534162..180536876,3	K562	blood:
4	chr1:180511669..180514906-chr1:180530245..180533112,3	K562	blood:
5	chr1:180520741..180525768-chr1:180529838..180532812,4	MCF-7	breast:
6	chr1:180535652..180538329-chr1:180539867..180543816,3	K562	blood:
7	chr1:180513656..180516816-chr1:180534714..180539709,4	K562	blood:
8	chr1:180524921..180527683-chr1:180532658..180534394,2	MCF-7	breast:
9	chr1:180524735..180527713-chr1:180532458..180534651,2	K562	blood:
10	chr1:180530904..180533469-chr1:180554025..180555581,2	MCF-7	breast:
11	chr1:180470665..180473008-chr1:180530633..180533066,2	MCF-7	breast:
12	chr1:180528019..180529576-chr1:180533585..180535526,2	K562	blood:
13	chr1:180530185..180532877-chr1:180542986..180545564,3	K562	blood:
14	chr1:180530731..180535452-chr1:180539258..180542430,4	K562	blood:
15	chr1:180530082..180533605-chr1:180534162..180536876,3	K562	blood:
16	chr1:180524885..180529280-chr1:180535382..180538296,3	MCF-7	breast:
17	chr1:180536800..180538673-chr1:180600367..180602575,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XPR1-2	chr1:180534387-180535508	XLOC_000477
2	lnc-XPR1-2	chr1:180534387-180535634	XLOC_000477
3	lnc-XPR1-2	chr1:180534387-180535654	ENSG00000236719
4	lnc-XPR1-2	chr1:180534387-180535654	XLOC_000477

No data

Variant related genes	Relation type
ENSG00000236719	chromatin interactions
ENSG00000266683	chromatin interactions
ENSG00000143324	chromatin interactions
ENSG00000135847	chromatin interactions
RAB11FIP5	miRNA target sites
SLC44A1	miRNA target sites

Extended variants
information (count: 202 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78556767	chr1:180531674-180531675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545488712	chr1:180531724-180531725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183975276	chr1:180531731-180531732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188924885	chr1:180531741-180531742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542720617	chr1:180531744-180531745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140531471	chr1:180531776-180531777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74541210	chr1:180531805-180531806	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs80102370	chr1:180531840-180531841	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192362954	chr1:180531846-180531847	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147094548	chr1:180531856-180531857	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs72720953	chr1:180531872-180531873	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532466911	chr1:180531897-180531898	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552152739	chr1:180531951-180531952	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368342810	chr1:180531955-180531956	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565112398	chr1:180531964-180531965	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575908433	chr1:180531969-180531970	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565363990	chr1:180532048-180532049	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528057667	chr1:180532124-180532125	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548107125	chr1:180532128-180532129	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs17300950	chr1:180532138-180532139	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs183612801	chr1:180532143-180532144	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550415820	chr1:180532167-180532168	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs186754821	chr1:180532215-180532216	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539166032	chr1:180532239-180532240	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114613009	chr1:180532373-180532374	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572444976	chr1:180532387-180532388	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534705701	chr1:180532419-180532420	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138698553	chr1:180532423-180532424	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191890756	chr1:180532505-180532506	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61811629	chr1:180532514-180532515	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs61811630	chr1:180532526-180532527	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184076851	chr1:180532531-180532532	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374575527	chr1:180532536-180532537	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576604736	chr1:180532547-180532548	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545526958	chr1:180532610-180532611	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs74676870	chr1:180532671-180532672	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs61811631	chr1:180532686-180532687	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115684457	chr1:180532694-180532695	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569774454	chr1:180532699-180532700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78832306	chr1:180532709-180532710	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537553778	chr1:180532733-180532734	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558854749	chr1:180532756-180532757	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530441436	chr1:180532768-180532769	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550476119	chr1:180532778-180532779	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114027727	chr1:180532784-180532785	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539227555	chr1:180532804-180532805	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552752175	chr1:180532874-180532875	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566044745	chr1:180532883-180532884	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs68020735	chr1:180532902-180532903	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142757991	chr1:180532939-180532940	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
2	chr1:180525200-180534400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:180529000-180531800	Enhancers	K562	blood
4	chr1:180529200-180532800	Enhancers	HSMMtube	muscle
5	chr1:180529200-180533000	Enhancers	Osteobl	bone
6	chr1:180529400-180532800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:180529600-180532800	Enhancers	NHEK	skin
8	chr1:180530000-180535000	Enhancers	Left Ventricle	heart
9	chr1:180530200-180532600	Enhancers	Aorta	Aorta
10	chr1:180530400-180531800	Weak transcription	Stomach Mucosa	stomach
11	chr1:180530600-180531800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:180530600-180531800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:180530600-180531800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:180530600-180532000	Weak transcription	HepG2	liver
15	chr1:180530600-180532400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:180530800-180531800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:180530800-180531800	Weak transcription	NH-A	brain
18	chr1:180530800-180532200	Enhancers	HSMM	muscle
19	chr1:180530800-180535200	Weak transcription	Pancreas	Pancrea
20	chr1:180531200-180531800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:180531200-180531800	Enhancers	Right Ventricle	heart
22	chr1:180531200-180532200	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:180531200-180532600	Enhancers	Hela-S3	cervix
24	chr1:180531400-180532600	Enhancers	A549	lung
25	chr1:180531400-180532800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:180531400-180532800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:180531400-180532800	Enhancers	HMEC	breast
28	chr1:180531400-180533000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:180531400-180537400	Enhancers	Fetal Brain Male	brain
30	chr1:180531600-180531800	Enhancers	Right Atrium	heart
31	chr1:180531600-180532200	Enhancers	Fetal Brain Female	brain
32	chr1:180531600-180532600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:180531600-180532800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:180531600-180532800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:180531600-180532800	Enhancers	Placenta	Placenta
36	chr1:180531600-180532800	Enhancers	NHLF	lung
37	chr1:180531600-180533000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:180531600-180533000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:180531600-180535000	Enhancers	Fetal Heart	heart
40	chr1:180531800-180532400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:180531800-180532600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:180531800-180532600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:180531800-180532600	Enhancers	Stomach Mucosa	stomach
44	chr1:180531800-180532600	Enhancers	NH-A	brain
45	chr1:180531800-180532800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:180531800-180532800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:180531800-180532800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr1:180531800-180532800	Enhancers	NHDF-Ad	bronchial
49	chr1:180531800-180533000	Flanking Active TSS	K562	blood
50	chr1:180531800-180534400	Weak transcription	Right Atrium	heart

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