Variant report

Variant	nsv873146
Chromosome Location	chr1:210312760-210347417
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210314956..210318963-chr1:210546030..210548904,4	K562	blood:
2	chr1:210316538..210317044-chr1:210484103..210484920,2	K562	blood:
3	chr1:210313972..210316201-chr1:210423103..210425366,2	MCF-7	breast:
4	chr1:210317209..210318789-chr1:210487022..210489666,2	K562	blood:
5	chr1:210313790..210315610-chr1:210545202..210547564,2	MCF-7	breast:
6	chr1:210316548..210317518-chr1:210484113..210484757,2	MCF-7	breast:
7	chr1:210316799..210319752-chr1:210525162..210527241,2	MCF-7	breast:
8	chr1:210327978..210329782-chr1:210330529..210332629,2	MCF-7	breast:
9	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:
10	chr1:210316536..210317443-chr1:211686960..211687594,2	K562	blood:
11	chr1:210338675..210341469-chr1:210342023..210343618,2	MCF-7	breast:
12	chr1:210316361..210320109-chr1:210546317..210548810,5	MCF-7	breast:
13	chr1:210325776..210327763-chr1:210371201..210372948,2	MCF-7	breast:
14	chr1:210316574..210317598-chr1:210573631..210575041,4	K562	blood:
15	chr1:210330425..210331938-chr1:210333918..210336587,2	K562	blood:
16	chr1:210323268..210327059-chr1:210328084..210329766,3	MCF-7	breast:
17	chr1:210323268..210327059-chr1:210328084..210329766,3	MCF-7	breast:
18	chr1:210314232..210320481-chr1:210542652..210547614,9	MCF-7	breast:
19	chr1:210316840..210317797-chr1:211307565..211308512,2	K562	blood:
20	chr1:210330425..210331938-chr1:210333918..210336587,2	K562	blood:
21	chr1:210316285..210317489-chr1:210533856..210534705,3	MCF-7	breast:
22	chr1:210336624..210338329-chr1:210405939..210407784,2	MCF-7	breast:
23	chr1:210338675..210341469-chr1:210342023..210343618,2	MCF-7	breast:
24	chr1:210327978..210329782-chr1:210330529..210332629,2	MCF-7	breast:
25	chr1:210310049..210311976-chr1:210316997..210318625,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000082497	chromatin interactions
ENSG00000203706	chromatin interactions
ENSG00000200972	chromatin interactions

Extended variants
information (count: 1135 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1135 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1002382	chr1:210312760-210312761	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549131537	chr1:210312761-210312762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561180962	chr1:210312839-210312840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528378366	chr1:210312867-210312868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576510709	chr1:210312920-210312921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76528754	chr1:210312959-210312960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4844950	chr1:210312963-210312964	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571257957	chr1:210312968-210312969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538590488	chr1:210312969-210312970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550410312	chr1:210312984-210312985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77037886	chr1:210313031-210313032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140235052	chr1:210313033-210313034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554727899	chr1:210313057-210313058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573230932	chr1:210313074-210313075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371458784	chr1:210313161-210313162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34156055	chr1:210313169-210313170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534218785	chr1:210313197-210313198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558568656	chr1:210313227-210313228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183636690	chr1:210313248-210313249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544548158	chr1:210313249-210313250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150322187	chr1:210313314-210313315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189567432	chr1:210313389-210313390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542488947	chr1:210313462-210313463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561041471	chr1:210313495-210313496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181583794	chr1:210313500-210313501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546927927	chr1:210313559-210313560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565132764	chr1:210313594-210313595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532036214	chr1:210313612-210313613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550519498	chr1:210313667-210313668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568894303	chr1:210313756-210313757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369353254	chr1:210313763-210313764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529774228	chr1:210313784-210313785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199661348	chr1:210313870-210313871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548421719	chr1:210313890-210313891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116731030	chr1:210313918-210313919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541764801	chr1:210313932-210313933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534085026	chr1:210313937-210313938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116574066	chr1:210313956-210313957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571097964	chr1:210313987-210313988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142124190	chr1:210314025-210314026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556503021	chr1:210314033-210314034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186677590	chr1:210314091-210314092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191982208	chr1:210314119-210314120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542338090	chr1:210314167-210314168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374110544	chr1:210314188-210314189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146400583	chr1:210314191-210314192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530661398	chr1:210314200-210314201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11800867	chr1:210314209-210314210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540402071	chr1:210314357-210314358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140764009	chr1:210314391-210314392	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210298400-210318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210305400-210318400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:210311400-210313600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:210313600-210318200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:210314800-210315600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr1:210315600-210316200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:210316200-210316400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:210318000-210319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:210318000-210319800	Enhancers	HMEC	breast
10	chr1:210318200-210318800	Enhancers	NHEK	skin
11	chr1:210318200-210319200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:210318200-210319400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:210318400-210318800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:210318400-210319200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:210319200-210323400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:210319200-210338400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:210319400-210329000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:210319600-210324600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:210324600-210324800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:210327000-210327600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:210327600-210327800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:210327600-210327800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:210327800-210332000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:210328600-210329600	Enhancers	Fetal Heart	heart
25	chr1:210329000-210329200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:210329200-210329400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:210329400-210339000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:210331600-210334600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:210331800-210332800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:210332400-210334600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:210332800-210333600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:210333200-210340600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:210334000-210334200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:210336600-210336800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:210337600-210340600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:210338400-210339400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:210339000-210339600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:210339400-210361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:210339600-210340400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:210339800-210340600	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:210340400-210340600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:210340400-210340600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:210340400-210341000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:210340600-210340800	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:210340600-210341000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:210341000-210344200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:210343400-210345000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:210343600-210344200	Enhancers	Fetal Lung	lung
49	chr1:210344200-210344800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:210344400-210344800	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links