Variant report

Variant	nsv549123
Chromosome Location	chr1:210854815-210876192
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:9)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:210849903..210852743-chr1:210867034..210869915,2	K562	blood:
2	chr1:210865698..210867541-chr1:210869096..210870691,2	K562	blood:
3	chr1:210848540..210850849-chr1:210853402..210855060,2	K562	blood:
4	chr1:210865100..210867541-chr1:210867654..210870691,4	K562	blood:
5	chr1:210865100..210867541-chr1:210867654..210870691,4	K562	blood:
6	chr1:210863900..210866305-chr1:210870250..210872893,2	MCF-7	breast:
7	chr1:210863900..210866305-chr1:210870250..210872893,2	MCF-7	breast:
8	chr1:210865698..210867541-chr1:210869096..210870691,2	K562	blood:
9	chr1:210846826..210848354-chr1:210867968..210870812,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-3	chr1:210851657-210855274	NONHSAT009270
2	lnc-C1orf133-4	chr1:210874184-210875444	l_179_chr1:210871966-210878525_adrenal
3	lnc-C1orf133-4	chr1:210871967-210872563	l_179_chr1:210871966-210878525_adrenal

No data

Extended variants
information (count: 888 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6680517	chr1:210854815-210854816	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530861242	chr1:210854821-210854822	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs549266543	chr1:210854826-210854827	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs567490689	chr1:210854835-210854836	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs57402964	chr1:210854865-210854866	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543269143	chr1:210854877-210854878	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs546683997	chr1:210854898-210854899	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs571295749	chr1:210854919-210854920	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs375353800	chr1:210854922-210854923	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs556710283	chr1:210854923-210854924	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs568495928	chr1:210854951-210854952	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs141360457	chr1:210854958-210854959	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs73065558	chr1:210854982-210854983	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573101517	chr1:210854993-210854994	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs145091498	chr1:210855030-210855031	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs559106625	chr1:210855068-210855069	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs192039568	chr1:210855088-210855089	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs185343525	chr1:210855120-210855121	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs188711764	chr1:210855142-210855143	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs193281193	chr1:210855152-210855153	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs542947620	chr1:210855177-210855178	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs117244995	chr1:210855199-210855200	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs184324914	chr1:210855205-210855206	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs559139117	chr1:210855214-210855215	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs571397299	chr1:210855238-210855239	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs577788281	chr1:210855285-210855286	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17188451	chr1:210855298-210855299	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550613241	chr1:210855304-210855305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34529311	chr1:210855317-210855318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568532855	chr1:210855318-210855319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188304712	chr1:210855353-210855354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138954270	chr1:210855355-210855356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566871680	chr1:210855368-210855369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534487207	chr1:210855408-210855409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372769464	chr1:210855410-210855411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180867119	chr1:210855441-210855442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577334027	chr1:210855453-210855454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9430042	chr1:210855461-210855462	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149014939	chr1:210855477-210855478	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76067304	chr1:210855532-210855533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569835927	chr1:210855539-210855540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542282944	chr1:210855573-210855574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560489239	chr1:210855575-210855576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573082075	chr1:210855587-210855588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372508324	chr1:210855590-210855591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564945205	chr1:210855627-210855628	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148097780	chr1:210855675-210855676	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551858726	chr1:210855733-210855734	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550262293	chr1:210855850-210855851	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1890841	chr1:210855851-210855852	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	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
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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	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
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210835400-210863200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:210837800-210859800	Weak transcription	Right Ventricle	heart
3	chr1:210838000-210880400	Weak transcription	Gastric	stomach
4	chr1:210843600-210855800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:210843800-210857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:210845000-210857000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:210845400-210866000	Weak transcription	Spleen	Spleen
8	chr1:210845800-210857600	Weak transcription	Fetal Intestine Small	intestine
9	chr1:210846000-210865600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:210846200-210862400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:210846200-210865800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:210846400-210855600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:210846400-210884600	Weak transcription	Ovary	ovary
14	chr1:210847000-210860200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:210847600-210862200	Weak transcription	Brain Angular Gyrus	brain
16	chr1:210847800-210857200	Weak transcription	Aorta	Aorta
17	chr1:210848400-210857000	Strong transcription	HSMM	muscle
18	chr1:210850000-210857000	Weak transcription	Pancreas	Pancrea
19	chr1:210852200-210857800	Strong transcription	HSMMtube	muscle
20	chr1:210852600-210857800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:210852800-210857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:210852800-210860400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:210853400-210857000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:210853400-210857800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:210853800-210856200	Strong transcription	Fetal Stomach	stomach
26	chr1:210853800-210856600	Weak transcription	Thymus	Thymus
27	chr1:210854000-210856200	Enhancers	Fetal Heart	heart
28	chr1:210854200-210855000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:210854200-210856200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:210854200-210858000	Enhancers	Fetal Muscle Leg	muscle
31	chr1:210854400-210855000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:210854400-210855000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:210854600-210856000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:210854800-210855400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:210854800-210856000	Enhancers	Fetal Muscle Trunk	muscle
36	chr1:210855200-210859400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:210855400-210855800	Enhancers	Brain Cingulate Gyrus	brain
38	chr1:210855400-210858800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:210855600-210855800	Enhancers	Brain Anterior Caudate	brain
40	chr1:210855600-210856000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:210855600-210856200	Enhancers	Brain Hippocampus Middle	brain
42	chr1:210855600-210856200	Enhancers	Brain Substantia Nigra	brain
43	chr1:210855800-210857400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:210855800-210861800	Weak transcription	Brain Anterior Caudate	brain
45	chr1:210856000-210857000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:210856000-210860600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:210856000-210863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:210856200-210856600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:210856200-210856800	Weak transcription	Fetal Stomach	stomach
50	chr1:210856200-210862000	Weak transcription	Brain Hippocampus Middle	brain

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