Variant report

Variant	nsv160457
Chromosome Location	chr1:212847260-212854762
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:13)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212781892..212784814-chr1:212847343..212849366,2	K562	blood:
2	chr1:212780820..212783342-chr1:212851075..212852900,2	K562	blood:
3	chr1:212839024..212843211-chr1:212844432..212848358,3	K562	blood:
4	chr1:212782111..212784308-chr1:212852727..212855558,2	MCF-7	breast:
5	chr1:212817511..212819084-chr1:212851908..212854150,2	K562	blood:
6	chr1:212849753..212851701-chr1:212859553..212861463,2	K562	blood:
7	chr1:212844788..212847295-chr1:212849641..212851395,3	K562	blood:
8	chr1:212840474..212842285-chr1:212848383..212850482,2	K562	blood:
9	chr1:212843284..212846288-chr1:212848172..212851141,3	K562	blood:
10	chr1:212847538..212850191-chr1:212852338..212855391,3	K562	blood:
11	chr1:212847538..212850191-chr1:212852338..212855391,3	K562	blood:
12	chr1:212844788..212847295-chr1:212849641..212851395,3	K562	blood:
13	chr1:212851040..212855618-chr1:212856353..212859707,5	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71A-1	chr1:212847302-212847392	XLOC_000556
2	lnc-FAM71A-1	chr1:212848206-212848542	NONHSAT009392
3	lnc-FAM71A-1	chr1:212847267-212847407	NONHSAT009392
4	lnc-FAM71A-1	chr1:212847266-212847401	NONHSAT009393
5	lnc-FAM71A-1	chr1:212847941-212848586	NONHSAT009393
6	lnc-FAM71A-1	chr1:212848206-212848581	XLOC_000556
7	lnc-FAM71A-1	chr1:212847267-212847401	XLOC_000556
8	lnc-FAM71A-1	chr1:212847267-212847392	XLOC_000556
9	lnc-FAM71A-1	chr1:212848206-212848586	XLOC_000556

No data

Variant related genes	Relation type
ENSG00000162772	chromatin interactions
ENSG00000123685	chromatin interactions
ZSWIM6	miRNA target sites

Extended variants
information (count: 282 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:282 , 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	rs79540904	chr1:212847260-212847261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559861346	chr1:212847294-212847295	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs550628798	chr1:212847296-212847297	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs532918642	chr1:212847303-212847304	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs114563368	chr1:212847310-212847311	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs372710874	chr1:212847313-212847314	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs61829183	chr1:212847352-212847353	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs56898209	chr1:212847379-212847380	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs548952166	chr1:212847384-212847385	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs3105709	chr1:212847389-212847390	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs71573851	chr1:212847396-212847397	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs2501851	chr1:212847407-212847408	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs56283090	chr1:212847413-212847414	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376715687	chr1:212847421-212847422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184673834	chr1:212847468-212847469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539596601	chr1:212847488-212847489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527958221	chr1:212847496-212847497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558225256	chr1:212847507-212847508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189136963	chr1:212847546-212847547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569017366	chr1:212847549-212847550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555311431	chr1:212847557-212847558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181308160	chr1:212847575-212847576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183899992	chr1:212847576-212847577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369225088	chr1:212847646-212847647	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547807874	chr1:212847753-212847754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs578121060	chr1:212847754-212847755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544816519	chr1:212847773-212847774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375613356	chr1:212847808-212847809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567546092	chr1:212847859-212847860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563400385	chr1:212847866-212847867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2501852	chr1:212847883-212847884	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs202127128	chr1:212847901-212847902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372752953	chr1:212847902-212847903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376993453	chr1:212847903-212847904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34977888	chr1:212847904-212847905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200370326	chr1:212847905-212847906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370354322	chr1:212847908-212847909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374313421	chr1:212847909-212847910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542661417	chr1:212847937-212847938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560852754	chr1:212848012-212848013	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs114181916	chr1:212848056-212848057	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs546872976	chr1:212848088-212848089	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs571395477	chr1:212848109-212848110	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs146012312	chr1:212848235-212848236	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs55846918	chr1:212848246-212848247	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569834527	chr1:212848258-212848259	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs535950075	chr1:212848262-212848263	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs138578968	chr1:212848265-212848266	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs115814054	chr1:212848272-212848273	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs532927531	chr1:212848292-212848293	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212842200-212854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:212845200-212850600	Weak transcription	Spleen	Spleen
3	chr1:212845400-212850600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:212845400-212850800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:212845400-212850800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:212845400-212852200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:212845600-212850600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:212845600-212854000	Weak transcription	A549	lung
9	chr1:212846200-212849200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:212846400-212851000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:212846400-212851400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:212846600-212850600	Weak transcription	GM12878-XiMat	blood
13	chr1:212849200-212849600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:212849600-212850800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:212850600-212851000	Enhancers	Spleen	Spleen
16	chr1:212850600-212851800	Enhancers	GM12878-XiMat	blood
17	chr1:212850600-212852200	Enhancers	Fetal Muscle Leg	muscle
18	chr1:212850600-212852600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:212850600-212854800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:212850800-212851600	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:212850800-212851600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:212850800-212851800	Enhancers	Brain Substantia Nigra	brain
23	chr1:212850800-212854200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:212851000-212851200	Weak transcription	Spleen	Spleen
25	chr1:212851000-212851800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:212851000-212852800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:212851000-212853400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:212851200-212851600	Enhancers	Fetal Thymus	thymus
29	chr1:212851200-212851800	Bivalent Enhancer	HepG2	liver
30	chr1:212851200-212852800	Enhancers	Spleen	Spleen
31	chr1:212851400-212851600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:212851400-212851600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:212851600-212851800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:212851600-212851800	Enhancers	Liver	Liver
35	chr1:212851600-212852200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr1:212851600-212852600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:212851600-212856200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:212851600-212856800	Weak transcription	Fetal Thymus	thymus
39	chr1:212851800-212852000	Enhancers	Primary B cells from cord blood	blood
40	chr1:212851800-212852000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:212851800-212852000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:212851800-212852200	Enhancers	Brain Hippocampus Middle	brain
43	chr1:212851800-212852400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:212851800-212853000	Enhancers	Primary B cells from peripheral blood	blood
45	chr1:212851800-212853200	Flanking Active TSS	GM12878-XiMat	blood
46	chr1:212851800-212856000	Weak transcription	Adipose Nuclei	Adipose
47	chr1:212851800-212856800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:212852200-212852400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:212852200-212852600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:212852200-212855400	Weak transcription	Brain Hippocampus Middle	brain

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