Variant report

Variant	nsv873144
Chromosome Location	chr1:210252522-210347417
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210313790..210315610-chr1:210545202..210547564,2	MCF-7	breast:
2	chr1:210316538..210317044-chr1:210484103..210484920,2	K562	blood:
3	chr1:210327978..210329782-chr1:210330529..210332629,2	MCF-7	breast:
4	chr1:210291718..210293860-chr1:210544632..210547105,2	K562	blood:
5	chr1:210330425..210331938-chr1:210333918..210336587,2	K562	blood:
6	chr1:210316361..210320109-chr1:210546317..210548810,5	MCF-7	breast:
7	chr1:210289977..210291636-chr1:210546709..210548548,2	K562	blood:
8	chr1:210265340..210267266-chr1:210304379..210306756,2	K562	blood:
9	chr1:210330425..210331938-chr1:210333918..210336587,2	K562	blood:
10	chr1:210313972..210316201-chr1:210423103..210425366,2	MCF-7	breast:
11	chr1:210325776..210327763-chr1:210371201..210372948,2	MCF-7	breast:
12	chr1:210266309..210268653-chr1:210272618..210275297,2	K562	blood:
13	chr1:210323268..210327059-chr1:210328084..210329766,3	MCF-7	breast:
14	chr1:210338675..210341469-chr1:210342023..210343618,2	MCF-7	breast:
15	chr1:210317209..210318789-chr1:210487022..210489666,2	K562	blood:
16	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:
17	chr1:210263270..210265480-chr1:210265960..210268374,2	K562	blood:
18	chr1:210316840..210317797-chr1:211307565..211308512,2	K562	blood:
19	chr1:210323268..210327059-chr1:210328084..210329766,3	MCF-7	breast:
20	chr1:210253121..210255140-chr1:210544915..210547791,2	MCF-7	breast:
21	chr1:210263054..210265435-chr1:210545571..210548117,2	MCF-7	breast:
22	chr1:210310049..210311976-chr1:210316997..210318625,2	K562	blood:
23	chr1:210316536..210317443-chr1:211686960..211687594,2	K562	blood:
24	chr1:210314232..210320481-chr1:210542652..210547614,9	MCF-7	breast:
25	chr1:210277431..210277931-chr2:99196921..99197422,2	NB4	blood:
26	chr1:210316548..210317518-chr1:210484113..210484757,2	MCF-7	breast:
27	chr1:210265340..210267266-chr1:210304379..210306756,2	K562	blood:
28	chr1:210338675..210341469-chr1:210342023..210343618,2	MCF-7	breast:
29	chr1:210336624..210338329-chr1:210405939..210407784,2	MCF-7	breast:
30	chr1:210266309..210268653-chr1:210272618..210275297,2	K562	blood:
31	chr1:210314956..210318963-chr1:210546030..210548904,4	K562	blood:
32	chr1:210316799..210319752-chr1:210525162..210527241,2	MCF-7	breast:
33	chr1:210327978..210329782-chr1:210330529..210332629,2	MCF-7	breast:
34	chr1:210263270..210265480-chr1:210265960..210268374,2	K562	blood:
35	chr1:210316574..210317598-chr1:210573631..210575041,4	K562	blood:
36	chr1:210310049..210311976-chr1:210316997..210318625,2	K562	blood:
37	chr1:210316285..210317489-chr1:210533856..210534705,3	MCF-7	breast:

No data

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

Extended variants
information (count: 3219 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3219 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3860298	chr1:210252522-210252523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567353848	chr1:210252580-210252581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547867778	chr1:210252598-210252599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528231602	chr1:210252600-210252601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546531154	chr1:210252605-210252606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75482684	chr1:210252633-210252634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12401574	chr1:210252635-210252636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34614517	chr1:210252650-210252651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3901803	chr1:210252745-210252746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185092526	chr1:210252818-210252819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72743413	chr1:210252875-210252876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114127780	chr1:210252876-210252877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs227185	chr1:210252888-210252889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141996439	chr1:210252937-210252938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546160087	chr1:210252972-210252973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200658005	chr1:210253017-210253018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573365296	chr1:210253045-210253046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189115517	chr1:210253099-210253100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199769769	chr1:210253115-210253116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559322822	chr1:210253164-210253165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs17015578	chr1:210253280-210253281	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544888386	chr1:210253308-210253309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562763999	chr1:210253394-210253395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530058538	chr1:210253404-210253405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368368002	chr1:210253433-210253434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541969065	chr1:210253501-210253502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10779521	chr1:210253508-210253509	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs528318099	chr1:210253515-210253516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142546380	chr1:210253540-210253541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553439325	chr1:210253554-210253555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564869988	chr1:210253576-210253577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532288221	chr1:210253590-210253591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146039607	chr1:210253645-210253646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148680956	chr1:210253676-210253677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10863809	chr1:210253684-210253685	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs141153846	chr1:210253805-210253806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150706120	chr1:210253819-210253820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112557902	chr1:210253840-210253841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534431444	chr1:210253892-210253893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559214604	chr1:210253901-210253902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577487182	chr1:210253903-210253904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28535111	chr1:210253915-210253916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534427678	chr1:210254008-210254009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111321730	chr1:210254097-210254098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139030708	chr1:210254106-210254107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145172816	chr1:210254118-210254119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552760002	chr1:210254127-210254128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147584259	chr1:210254139-210254140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192437595	chr1:210254174-210254175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574441461	chr1:210254247-210254248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Lung adenocarcinoma	21935476	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210247600-210253800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:210248600-210261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:210248600-210273200	Weak transcription	Fetal Brain Female	brain
4	chr1:210250400-210263000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:210250800-210258000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:210250800-210260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:210250800-210278800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:210251400-210260200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:210253000-210256200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:210253800-210254200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:210257800-210275000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:210258000-210258800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:210258800-210259400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:210259400-210259600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:210260200-210263600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:210260400-210260600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:210260600-210285200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:210261000-210261200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:210261000-210261200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:210261200-210261600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:210262000-210279600	Weak transcription	NH-A	brain
22	chr1:210263000-210263200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:210263200-210263800	Active TSS	A549	lung
24	chr1:210263200-210269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:210263600-210267000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:210266200-210266400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:210266400-210279000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:210267000-210267200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:210267200-210268000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:210268000-210269400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:210268400-210287400	Weak transcription	Brain Germinal Matrix	brain
32	chr1:210269000-210278400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:210269400-210270600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:210269800-210270400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:210270400-210273400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:210270600-210271800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:210271800-210272200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:210272000-210273400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:210272200-210273200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:210273200-210274000	Enhancers	Fetal Brain Female	brain
41	chr1:210273200-210275000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:210273400-210273600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:210273400-210274200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:210273400-210274400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:210273600-210284600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:210274000-210280200	Weak transcription	Fetal Brain Female	brain
47	chr1:210274200-210290600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:210274400-210278000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:210275000-210277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:210276600-210285400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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