Variant report

Variant	esv3417674
Chromosome Location	chr1:161298229-161310433
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161288348..161289973-chr1:161298719..161301055,2	K562	blood:
2	chr1:161278219..161280300-chr1:161298229..161300204,2	K562	blood:
3	chr1:161283978..161286026-chr1:161304913..161306485,2	K562	blood:
4	chr1:161284181..161285749-chr1:161296030..161299261,3	K562	blood:
5	chr1:161283978..161286487-chr1:161304985..161307259,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCP4L1-2	chr1:161298192-161298287	NONHSAT007157
2	lnc-PCP4L1-2	chr1:161310384-161310404	NONHSAT007157

No data

Variant related genes	Relation type
ENSG00000143252	chromatin interactions
ENSG00000158887	chromatin interactions

Extended variants
information (count: 498 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374450282	chr1:161298270-161298271	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs532455044	chr1:161298297-161298298	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552652497	chr1:161298321-161298322	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115216681	chr1:161298369-161298370	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376437992	chr1:161298387-161298388	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79983868	chr1:161298411-161298412	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186182732	chr1:161298526-161298527	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142554074	chr1:161298605-161298606	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534296723	chr1:161298633-161298634	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375064147	chr1:161298652-161298653	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557751716	chr1:161298656-161298657	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568446682	chr1:161298694-161298695	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576342627	chr1:161298698-161298699	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534236969	chr1:161298708-161298709	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564326857	chr1:161298766-161298767	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189909514	chr1:161298782-161298783	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150967975	chr1:161298790-161298791	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558666094	chr1:161298812-161298813	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533360077	chr1:161298817-161298818	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs57884260	chr1:161298818-161298819	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544260089	chr1:161298822-161298823	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs374657870	chr1:161298868-161298869	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs180815628	chr1:161298938-161298939	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs540526416	chr1:161298942-161298943	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560051560	chr1:161298948-161298949	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs60213621	chr1:161299030-161299031	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs60792683	chr1:161299043-161299044	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs57931640	chr1:161299064-161299065	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs367681728	chr1:161299090-161299091	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371231021	chr1:161299125-161299126	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544712111	chr1:161299145-161299146	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143116290	chr1:161299153-161299154	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34948810	chr1:161299164-161299165	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373187672	chr1:161299183-161299184	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527931100	chr1:161299184-161299185	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs548079478	chr1:161299217-161299218	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs185799134	chr1:161299267-161299268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534024662	chr1:161299279-161299280	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146670432	chr1:161299283-161299284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191438657	chr1:161299297-161299298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4308999	chr1:161299313-161299314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs537961966	chr1:161299317-161299318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554561023	chr1:161299332-161299333	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182859298	chr1:161299387-161299388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4272645	chr1:161299409-161299410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4272646	chr1:161299491-161299492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530905056	chr1:161299517-161299518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188723833	chr1:161299547-161299548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150383971	chr1:161299600-161299601	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs72714971	chr1:161299612-161299613	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161284800-161300400	Weak transcription	Aorta	Aorta
2	chr1:161285000-161298400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:161285000-161301800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:161285200-161299200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:161285200-161321400	Weak transcription	Stomach Mucosa	stomach
6	chr1:161285400-161298400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:161285400-161299800	Weak transcription	Psoas Muscle	Psoas
8	chr1:161285400-161302000	Weak transcription	Fetal Brain Male	brain
9	chr1:161285400-161303400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:161285400-161303600	Weak transcription	NHLF	lung
11	chr1:161285400-161310200	Weak transcription	HUVEC	blood vessel
12	chr1:161285400-161321400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:161285600-161302600	Weak transcription	Esophagus	oesophagus
14	chr1:161285800-161298800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:161286800-161299800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:161286800-161337400	Weak transcription	Fetal Heart	heart
17	chr1:161287000-161337400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:161289600-161317200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:161292600-161299600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:161293200-161304600	Strong transcription	Fetal Intestine Small	intestine
21	chr1:161293200-161306600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:161293200-161307800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:161293200-161315200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:161293200-161317000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:161293200-161317400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:161293400-161300000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:161293400-161302000	Strong transcription	Thymus	Thymus
28	chr1:161293400-161307400	Strong transcription	Fetal Stomach	stomach
29	chr1:161293400-161307800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:161293400-161315000	Strong transcription	Fetal Intestine Large	intestine
31	chr1:161293600-161304400	Strong transcription	Lung	lung
32	chr1:161293600-161307400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:161293800-161300400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:161293800-161300800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:161293800-161300800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:161293800-161300800	Strong transcription	HepG2	liver
37	chr1:161293800-161302000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:161293800-161304600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:161293800-161304600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:161293800-161304600	Strong transcription	Ovary	ovary
41	chr1:161293800-161304800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr1:161293800-161304800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:161293800-161305000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:161293800-161305000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:161293800-161305800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr1:161293800-161306000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:161293800-161306000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:161293800-161306000	Strong transcription	Adipose Nuclei	Adipose
49	chr1:161293800-161306600	Strong transcription	Fetal Lung	lung
50	chr1:161293800-161306800	Strong transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links