Variant report

Variant	nsv548585
Chromosome Location	chr1:191428481-191505973
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:29)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191446579..191448734-chr1:191448967..191451024,2	MCF-7	breast:
2	chr1:191450148..191453626-chr1:191453943..191457136,3	K562	blood:
3	chr1:191145894..191148873-chr1:191433449..191436245,2	K562	blood:
4	chr1:191371943..191373778-chr1:191427254..191429182,2	K562	blood:
5	chr1:191501593..191503372-chr1:191505633..191507558,2	K562	blood:
6	chr1:191466190..191469106-chr1:191473353..191475090,2	K562	blood:
7	chr1:191446749..191449835-chr1:191450213..191452486,3	K562	blood:
8	chr1:191473798..191475673-chr1:191477416..191479078,2	K562	blood:
9	chr1:191455290..191457922-chr1:191460809..191463001,2	MCF-7	breast:
10	chr1:191476619..191478729-chr1:191489630..191491476,2	K562	blood:
11	chr1:191433727..191435829-chr1:191471858..191473427,2	K562	blood:
12	chr1:191424584..191426458-chr1:191426540..191428604,2	MCF-7	breast:
13	chr1:191461107..191464086-chr1:191468254..191471199,3	K562	blood:
14	chr1:191446579..191448734-chr1:191448967..191451024,2	MCF-7	breast:
15	chr1:191446749..191449835-chr1:191450213..191452486,3	K562	blood:
16	chr1:191466190..191469106-chr1:191473353..191475090,2	K562	blood:
17	chr1:191473798..191475673-chr1:191477416..191479078,2	K562	blood:
18	chr1:191160823..191162731-chr1:191477898..191480311,2	K562	blood:
19	chr1:191433727..191435829-chr1:191471858..191473427,2	K562	blood:
20	chr1:191455290..191457922-chr1:191460809..191463001,2	MCF-7	breast:
21	chr1:191488913..191492156-chr1:191496270..191498298,3	MCF-7	breast:
22	chr1:191461107..191464086-chr1:191468254..191471199,3	K562	blood:
23	chr1:191501593..191503372-chr1:191505633..191507558,2	K562	blood:
24	chr1:191488913..191492156-chr1:191496270..191498298,3	MCF-7	breast:
25	chr1:191502483..191504253-chr17:56707440..56709288,2	MCF-7	breast:
26	chr1:191420711..191422302-chr1:191475055..191477121,2	K562	blood:
27	chr1:191476619..191478729-chr1:191489630..191491476,2	K562	blood:
28	chr1:191450148..191453626-chr1:191453943..191457136,3	K562	blood:
29	chr1:76262387..76264305-chr1:191498781..191500281,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-10	chr1:191494155-191494355	expReg_chr1_21196_+
2	lnc-FAM5C-13	chr1:191487184-191487423	predAs_chen_BG220711_1

No data

Variant related genes	Relation type
ENSG00000271187	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000057468	chromatin interactions

Extended variants
information (count: 1048 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1048 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545485291	chr1:191429407-191429408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565280148	chr1:191429409-191429410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182618415	chr1:191429457-191429458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113168924	chr1:191429472-191429473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1507828	chr1:191429504-191429505	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs113709639	chr1:191429546-191429547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375651259	chr1:191429585-191429586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530348723	chr1:191429614-191429615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546755656	chr1:191429657-191429658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556627941	chr1:191429664-191429665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532615784	chr1:191429725-191429726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552241691	chr1:191429749-191429750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111688623	chr1:191429759-191429760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537827258	chr1:191429764-191429765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547902266	chr1:191429783-191429784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs613836	chr1:191433463-191433464	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12026936	chr1:191433488-191433489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34688248	chr1:191433519-191433520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545431976	chr1:191433576-191433577	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376514737	chr1:191433620-191433621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564395202	chr1:191433630-191433631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553836591	chr1:191433642-191433643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1417924	chr1:191433682-191433683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549864523	chr1:191433696-191433697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115801376	chr1:191433702-191433703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148796325	chr1:191433773-191433774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78550086	chr1:191433806-191433807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74133712	chr1:191433809-191433810	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561954685	chr1:191433826-191433827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150448559	chr1:191433859-191433860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183781902	chr1:191433880-191433881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1341624	chr1:191433917-191433918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375145594	chr1:191433935-191433936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543942206	chr1:191433961-191433962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537154320	chr1:191433999-191434000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556828816	chr1:191434021-191434022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186219861	chr1:191434031-191434032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542250831	chr1:191434038-191434039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147137487	chr1:191434047-191434048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189809611	chr1:191434057-191434058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs36008647	chr1:191434079-191434080	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574625582	chr1:191434093-191434094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114730837	chr1:191434098-191434099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557372380	chr1:191434100-191434101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565095873	chr1:191434109-191434110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112241153	chr1:191434157-191434158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543894572	chr1:191434164-191434165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113101871	chr1:191434165-191434166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10920949	chr1:191434173-191434174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35138689	chr1:191434187-191434188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Parathyroid adenoma	20824076	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191429400-191429800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr1:191437800-191438000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:191439200-191439400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:191439200-191439800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:191439400-191439600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:191439600-191439800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:191439600-191440000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:191439600-191440000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:191439600-191440400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:191439800-191441000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:191441000-191443000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:191453000-191453600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:191453000-191453800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:191457800-191458800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:191460600-191461000	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:191460800-191461000	Enhancers	Brain Hippocampus Middle	brain
17	chr1:191461000-191461800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:191461000-191462000	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:191461800-191462200	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:191462000-191462200	Enhancers	Brain Hippocampus Middle	brain
21	chr1:191465000-191467800	Weak transcription	HUVEC	blood vessel
22	chr1:191465200-191465600	Enhancers	Fetal Heart	heart
23	chr1:191465200-191465600	Enhancers	K562	blood
24	chr1:191467600-191468200	Enhancers	A549	lung
25	chr1:191467800-191468200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:191467800-191468200	Enhancers	HUVEC	blood vessel
27	chr1:191476200-191476600	Active TSS	K562	blood
28	chr1:191477200-191478000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:191477400-191477800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:191477800-191481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:191488600-191489600	Active TSS	A549	lung
32	chr1:191489600-191490000	Flanking Active TSS	A549	lung
33	chr1:191490000-191492000	Enhancers	A549	lung
34	chr1:191496800-191498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:191497400-191497800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:191497400-191497800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:191497400-191497800	Enhancers	Colon Smooth Muscle	Colon
38	chr1:191497400-191497800	Enhancers	Rectal Smooth Muscle	rectum
39	chr1:191500000-191500600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:191501200-191501800	Enhancers	Fetal Heart	heart
41	chr1:191502400-191502800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:191502400-191502800	Active TSS	Gastric	stomach
43	chr1:191503000-191503400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:191503000-191503600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:191503000-191503800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:191503200-191503600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr1:191503200-191503600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:191503200-191503800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:191503600-191503800	Enhancers	Fetal Intestine Large	intestine
50	chr1:191504000-191505000	Weak transcription	Fetal Intestine Large	intestine

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