Variant report

Variant	nsv880685
Chromosome Location	chr4:173562564-173661711
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:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62608628..62609409-chr4:173591389..173591909,2	HCT-116	colon:
2	chr3:134092193..134092819-chr4:173581890..173582633,2	MCF-7	breast:
3	chr4:173565287..173567628-chr4:173572131..173574267,2	MCF-7	breast:
4	chr4:173623488..173624406-chr7:12420850..12421512,2	MCF-7	breast:
5	chr4:173570901..173573284-chr4:173580941..173583054,2	MCF-7	breast:
6	chr4:173609516..173610288-chr4:173751358..173752025,2	MCF-7	breast:
7	chr4:173634834..173636568-chr4:173638119..173640340,2	K562	blood:
8	chr4:173565287..173567628-chr4:173572131..173574267,2	MCF-7	breast:
9	chr4:173570901..173573284-chr4:173580941..173583054,2	MCF-7	breast:
10	chr4:173561754..173564425-chr4:173566220..173568096,2	K562	blood:
11	chr4:173634834..173636568-chr4:173638119..173640340,2	K562	blood:
12	chr4:173561754..173564425-chr4:173566220..173568096,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB2-13	chr4:173585281-173585413	NONHSAT099210
2	lnc-HMGB2-13	chr4:173585281-173585413	NONHSAT099209
3	lnc-HMGB2-13	chr4:173647975-173648029	NONHSAT099210

No data

Variant related genes	Relation type
ENSG00000114019	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 1884 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1884 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560249454	chr4:173569225-173569226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189297378	chr4:173569227-173569228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548028204	chr4:173569254-173569255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568298685	chr4:173569259-173569260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532543865	chr4:173569268-173569269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1455120	chr4:173569281-173569282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs148229961	chr4:173569295-173569296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74797004	chr4:173569307-173569308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539469437	chr4:173569321-173569322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553093425	chr4:173569363-173569364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181962474	chr4:173569377-173569378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115629625	chr4:173569379-173569380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185982082	chr4:173569409-173569410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575859684	chr4:173569416-173569417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544598968	chr4:173569422-173569423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17058703	chr4:173569430-173569431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs13104041	chr4:173569449-173569450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540272144	chr4:173569459-173569460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115214594	chr4:173569486-173569487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141248979	chr4:173569492-173569493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541970266	chr4:173569502-173569503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189181626	chr4:173569532-173569533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530808274	chr4:173569705-173569706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139196338	chr4:173569720-173569721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181200750	chr4:173569742-173569743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116705861	chr4:173569760-173569761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186722835	chr4:173569770-173569771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112398525	chr4:173569778-173569779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372968905	chr4:173569781-173569782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566530078	chr4:173569787-173569788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79112774	chr4:173569793-173569794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531008396	chr4:173569800-173569801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143739947	chr4:173569808-173569809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190774260	chr4:173569864-173569865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569330384	chr4:173569878-173569879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545183157	chr4:173569946-173569947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs837211	chr4:173569978-173569979	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577966009	chr4:173569979-173569980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76920157	chr4:173570001-173570002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370113252	chr4:173570010-173570011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376551648	chr4:173570091-173570092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563570413	chr4:173570098-173570099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116044823	chr4:173570114-173570115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75336058	chr4:173570152-173570153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563029921	chr4:173570223-173570224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539762898	chr4:173570310-173570311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199888995	chr4:173570321-173570322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536491482	chr4:173570327-173570328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530605294	chr4:173570329-173570330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1455119	chr4:173570337-173570338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173569200-173569400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:173569400-173570600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr4:173569600-173571600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:173569800-173570000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:173569800-173570000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:173569800-173570200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr4:173569800-173570200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:173569800-173570400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:173570000-173572400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:173570000-173572600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:173570200-173572400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:173570200-173573200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:173570600-173571600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:173571600-173573400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:173571600-173573800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr4:173572200-173572800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr4:173572200-173573000	Enhancers	Fetal Intestine Large	intestine
18	chr4:173572200-173573200	Enhancers	Fetal Intestine Small	intestine
19	chr4:173572400-173572600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:173572400-173573600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:173572600-173573000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:173572600-173573600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:173572600-173574200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:173572800-173574000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:173572800-173574200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:173573000-173574000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:173573000-173574200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:173573000-173574200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:173573000-173574200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:173573000-173577200	Weak transcription	Fetal Intestine Large	intestine
31	chr4:173573200-173573600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr4:173573200-173574400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr4:173573200-173577200	Weak transcription	Fetal Intestine Small	intestine
34	chr4:173573400-173574000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:173573400-173574800	Enhancers	Fetal Brain Male	brain
36	chr4:173573400-173577800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:173574000-173575200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:173574200-173574600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:173574600-173577000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:173575200-173576200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:173575800-173576000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:173575800-173576000	Enhancers	Adipose Nuclei	Adipose
43	chr4:173576200-173577200	Weak transcription	Adipose Nuclei	Adipose
44	chr4:173577000-173577400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:173577200-173577800	Enhancers	Pancreas	Pancrea
46	chr4:173577200-173578000	Enhancers	Duodenum Mucosa	Duodenum
47	chr4:173577200-173578200	Enhancers	Adipose Nuclei	Adipose
48	chr4:173577200-173578400	Enhancers	Fetal Intestine Small	intestine
49	chr4:173577200-173579000	Enhancers	Fetal Intestine Large	intestine
50	chr4:173577400-173577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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