Variant report

Variant	nsv523708
Chromosome Location	chr1:179292000-179293511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179279773..179281355-chr1:179292902..179294753,2	K562	blood:
2	chr1:179266326..179267837-chr1:179289291..179292001,2	MCF-7	breast:
3	chr1:179288088..179290753-chr1:179291190..179293971,2	K562	blood:
4	chr1:179292048..179292984-chr1:179301093..179301884,3	MCF-7	breast:
5	chr1:179279593..179281355-chr1:179292401..179294402,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2255375	chr1:179292000-179292001	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191673086	chr1:179292039-179292040	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183446920	chr1:179292043-179292044	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117281129	chr1:179292049-179292050	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370966220	chr1:179292052-179292053	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541788681	chr1:179292080-179292081	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151147617	chr1:179292123-179292124	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139007355	chr1:179292128-179292129	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550160298	chr1:179292145-179292146	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200481252	chr1:179292180-179292181	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61489177	chr1:179292196-179292197	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371439590	chr1:179292197-179292198	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563596894	chr1:179292354-179292355	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532660889	chr1:179292362-179292363	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189049919	chr1:179292391-179292392	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149905810	chr1:179292435-179292436	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2902277	chr1:179292442-179292443	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548034076	chr1:179292522-179292523	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373601596	chr1:179292529-179292530	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs367654648	chr1:179292532-179292533	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201625144	chr1:179292545-179292546	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144927520	chr1:179292574-179292575	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs199598100	chr1:179292592-179292593	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556936119	chr1:179292608-179292609	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200223584	chr1:179292654-179292655	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371390230	chr1:179292745-179292746	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368669235	chr1:179292760-179292761	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs193144025	chr1:179292779-179292780	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141055308	chr1:179292885-179292886	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs143373613	chr1:179292890-179292891	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183583227	chr1:179292896-179292897	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541648962	chr1:179292908-179292909	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs77272594	chr1:179292946-179292947	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575227687	chr1:179292965-179292966	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543425296	chr1:179293028-179293029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7354893	chr1:179293029-179293030	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532490829	chr1:179293030-179293031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546324564	chr1:179293058-179293059	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17277834	chr1:179293079-179293080	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528229520	chr1:179293131-179293132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552557152	chr1:179293180-179293181	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs55880216	chr1:179293196-179293197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146765270	chr1:179293251-179293252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140419222	chr1:179293252-179293253	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191330844	chr1:179293274-179293275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530739260	chr1:179293311-179293312	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183826300	chr1:179293372-179293373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569142049	chr1:179293373-179293374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143587681	chr1:179293438-179293439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531181445	chr1:179293443-179293444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Retinoblastoma	19183342	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
Chordoma	18071362	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
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179263800-179304600	Weak transcription	Lung	lung
2	chr1:179263800-179306400	Weak transcription	Gastric	stomach
3	chr1:179264600-179292000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:179264600-179304600	Weak transcription	Right Ventricle	heart
5	chr1:179264600-179310200	Weak transcription	Brain Substantia Nigra	brain
6	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:179264800-179313800	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:179264800-179313800	Weak transcription	Fetal Brain Female	brain
10	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:179266400-179322800	Weak transcription	Small Intestine	intestine
12	chr1:179268400-179312000	Weak transcription	Fetal Thymus	thymus
13	chr1:179272600-179313800	Weak transcription	Brain Anterior Caudate	brain
14	chr1:179273000-179311600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:179273200-179294600	Weak transcription	Placenta	Placenta
16	chr1:179273800-179293400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:179274600-179302400	Weak transcription	Left Ventricle	heart
18	chr1:179274600-179304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:179274600-179306000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:179275600-179311600	Weak transcription	HUVEC	blood vessel
21	chr1:179276400-179306200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:179276600-179304800	Weak transcription	Pancreas	Pancrea
23	chr1:179276800-179295200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:179277600-179296400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:179280400-179292000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:179280400-179296200	Weak transcription	NH-A	brain
27	chr1:179280400-179314000	Weak transcription	NHLF	lung
28	chr1:179280600-179292400	Weak transcription	HMEC	breast
29	chr1:179280600-179292800	Weak transcription	NHDF-Ad	bronchial
30	chr1:179280600-179293400	Weak transcription	Osteobl	bone
31	chr1:179280600-179299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:179281200-179300200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:179282000-179313000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:179282200-179295200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:179282400-179292000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:179282400-179292800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:179282400-179304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:179282400-179313800	Weak transcription	HSMMtube	muscle
39	chr1:179282600-179293400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:179283000-179293400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:179283200-179292200	Weak transcription	Primary B cells from cord blood	blood
42	chr1:179283200-179298800	Weak transcription	HepG2	liver
43	chr1:179283200-179308600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:179283400-179292600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:179283800-179292600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:179286400-179313800	Weak transcription	Psoas Muscle	Psoas
47	chr1:179287200-179294800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:179287200-179297200	Weak transcription	Spleen	Spleen
49	chr1:179287400-179304400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:179287600-179299000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links