Variant report

Variant	nsv1067839
Chromosome Location	chr2:20177392-20180238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:20179648-20180176	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr2:20177581-20177976	HUVEC	blood vessel:	n/a	n/a
3	GATA2	chr2:20179247-20180183	HUVEC	blood vessel:	n/a	chr2:20180170-20180180
4	GATA3	chr2:20179469-20180208	SK-N-SH	brain:	n/a	chr2:20180170-20180180
5	IRF1	chr2:20179715-20179890	K562	blood:	n/a	n/a
6	POLR2A	chr2:20178022-20178094	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20178592-20178642	SAEC	small airway:	n/a
2	chr2:20178592-20178642	NB4	blood:	n/a
3	chr2:20178592-20178642	RPTEC	kidney:	n/a
4	chr2:20178592-20178642	HepG2	liver:	n/a
5	chr2:20178592-20178642	SK-N-SH_RA	brain:	n/a
6	chr2:20178592-20178642	HRPEpiC	eye:	n/a
7	chr2:20178592-20178642	K562	blood:	n/a
8	chr2:20178592-20178642	PFSK-1	brain:	n/a
9	chr2:20178592-20178642	SKMC	muscle:	n/a
10	chr2:20178592-20178642	SK-N-MC	brain:	n/a
11	chr2:20178592-20178642	ProgFib	skin:	n/a
12	chr2:20178592-20178642	BJ	skin:	n/a
13	chr2:20178592-20178642	HRCEpiC	kidney:	n/a
14	chr2:20178592-20178642	Hepatocyte	liver:	n/a
15	chr2:20178592-20178642	HEK293	kidney:	embryo
16	chr2:20178592-20178642	HCF	heart:	n/a
17	chr2:20178592-20178642	AG09319	gingival:	n/a
18	chr2:20178592-20178642	A549	lung:	n/a
19	chr2:20178592-20178642	GM06990	blood:	n/a
20	chr2:20178592-20178642	SK-N-SH	brain:	n/a
21	chr2:20178592-20178642	T-47D	breast:	n/a
22	chr2:20178592-20178642	MCF-7	breast:	n/a
23	chr2:20178592-20178642	H1-hESC	embryonic stem cell:	embryo
24	chr2:20178592-20178642	Hela-S3	cervix:	n/a
25	chr2:20178592-20178642	GM12878	blood:	n/a
26	chr2:20178592-20178642	NH-A	brain:	n/a
27	chr2:20178592-20178642	HRE	kidney:	n/a
28	chr2:20178592-20178642	HCM	heart:	n/a
29	chr2:20178592-20178642	HCT-116	colon:	n/a
30	chr2:20178592-20178642	HMEC	breast:	n/a
31	chr2:20178592-20178642	HUVEC	blood vessel:	n/a
32	chr2:20178592-20178642	HCPEpiC	choroid plexus:	n/a
33	chr2:20178592-20178642	LNCaP	prostate:	n/a
34	chr2:20178592-20178642	HL-60	blood:	n/a
35	chr2:20178592-20178642	U87	brain:	n/a
36	chr2:20178592-20178642	HIPEpiC	eye:	n/a
37	chr2:20178592-20178642	IMR90	lung:	fetal
38	chr2:20178592-20178642	CMK	blood:	n/a
39	chr2:20178592-20178642	PANC-1	pancreas:	n/a
40	chr2:20178592-20178642	GM19239	blood:	n/a
41	chr2:20178592-20178642	AoSMC	blood vessel:	n/a
42	chr2:20178592-20178642	NHBE	bronchial:	n/a
43	chr2:20178592-20178642	AG04449	skin:	fetal
44	chr2:20178592-20178642	ovcar-3	ovarian:	n/a
45	chr2:20178592-20178642	Caco-2	colon:	n/a
46	chr2:20178592-20178642	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:20178592-20178642	BE2_C	brain:	n/a
48	chr2:20178592-20178642	AG09309	skin:	n/a
49	chr2:20178592-20178642	NHDF-neo	bronchial:	n/a
50	chr2:20178592-20178642	PrEC	prostate:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20175190..20177737-chr2:20179339..20181997,2	MCF-7	breast:
2	chr2:20171001..20173873-chr2:20178005..20179964,2	K562	blood:
3	chr2:20176121..20179659-chr2:20189446..20191255,3	MCF-7	breast:
4	chr2:20149305..20151850-chr2:20176525..20178682,2	MCF-7	breast:
5	chr2:20169846..20175848-chr2:20176195..20180875,7	K562	blood:
6	chr2:20178212..20180946-chr2:20182651..20185069,3	K562	blood:
7	chr2:20100471..20103125-chr2:20176302..20177810,2	MCF-7	breast:
8	chr2:20155843..20157988-chr2:20175935..20178784,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOB-15	chr2:20178129-20178303	l_1786_chr2:20178128-20181389_testes

No data

Variant related genes	Relation type
WDR35	TF binding region
WDR35	CpG island
ENSG00000227210	chromatin interactions
ENSG00000183891	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000118965	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187722681	chr2:20177429-20177430	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs551011085	chr2:20177439-20177440	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs148816463	chr2:20177451-20177452	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs530146308	chr2:20177563-20177564	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs547164213	chr2:20177583-20177584	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs536246053	chr2:20177604-20177605	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs2045779	chr2:20177815-20177816	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77948225	chr2:20177818-20177819	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs558859979	chr2:20177872-20177873	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs200813952	chr2:20177954-20177955	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs201502557	chr2:20177956-20177957	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs3039208	chr2:20177957-20177958	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs397836061	chr2:20177979-20177980	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs146955021	chr2:20177993-20177994	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537424033	chr2:20178073-20178074	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs17695872	chr2:20178086-20178087	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574430103	chr2:20178109-20178110	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559212975	chr2:20178149-20178150	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs539992073	chr2:20178160-20178161	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs553927732	chr2:20178166-20178167	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs370858910	chr2:20178180-20178181	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs375397779	chr2:20178192-20178193	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs192171858	chr2:20178242-20178243	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs546103080	chr2:20178249-20178250	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs562736794	chr2:20178270-20178271	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs544351544	chr2:20178299-20178300	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs34926699	chr2:20178311-20178312	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs35780337	chr2:20178330-20178331	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147601676	chr2:20178338-20178339	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544577252	chr2:20178343-20178344	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs111584647	chr2:20178359-20178360	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141020608	chr2:20178362-20178363	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs150248164	chr2:20178386-20178387	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374589636	chr2:20178441-20178442	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546808274	chr2:20178442-20178443	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560722961	chr2:20178455-20178456	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184429707	chr2:20178482-20178483	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs34063622	chr2:20178516-20178517	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs552378237	chr2:20178527-20178528	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569159167	chr2:20178528-20178529	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs372028990	chr2:20178537-20178538	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538156388	chr2:20178549-20178550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs375062321	chr2:20178592-20178593	Weak transcription Strong transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs140308808	chr2:20178593-20178594	Weak transcription Strong transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs115963122	chr2:20178630-20178631	Weak transcription Strong transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs573632756	chr2:20178639-20178640	Weak transcription Strong transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs201147062	chr2:20178641-20178642	Weak transcription Strong transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs368657154	chr2:20178681-20178682	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs369525406	chr2:20178682-20178683	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs189977697	chr2:20178699-20178700	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20117600-20188400	Weak transcription	Brain Angular Gyrus	brain
2	chr2:20128400-20188400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:20128400-20189200	Weak transcription	Small Intestine	intestine
4	chr2:20129400-20184800	Weak transcription	Esophagus	oesophagus
5	chr2:20129600-20189000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:20130200-20189000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:20130400-20188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:20130600-20188800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:20131800-20189000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:20133600-20184800	Weak transcription	Psoas Muscle	Psoas
11	chr2:20136800-20188800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:20136800-20189000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:20138200-20188800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:20138600-20184800	Weak transcription	Aorta	Aorta
15	chr2:20145200-20188000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:20153200-20177400	Weak transcription	Brain Germinal Matrix	brain
17	chr2:20153200-20184400	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:20157800-20187200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:20160600-20181200	Strong transcription	A549	lung
20	chr2:20162400-20188200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:20163200-20188800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:20164200-20187800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:20164600-20187000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:20164600-20189000	Weak transcription	Placenta	Placenta
25	chr2:20164800-20189000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:20165000-20181600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:20165000-20187000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:20165000-20188400	Weak transcription	K562	blood
29	chr2:20165400-20177600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:20165400-20187600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:20165600-20177600	Weak transcription	Left Ventricle	heart
32	chr2:20165600-20184600	Weak transcription	Gastric	stomach
33	chr2:20165800-20179800	Weak transcription	Fetal Thymus	thymus
34	chr2:20165800-20184600	Weak transcription	Lung	lung
35	chr2:20165800-20188200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:20166600-20177400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:20169000-20179200	Weak transcription	Ovary	ovary
38	chr2:20169000-20184800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:20169000-20188800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:20169000-20189000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:20169200-20188800	Weak transcription	Right Ventricle	heart
42	chr2:20171000-20181800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:20171000-20182200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:20171800-20187800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:20172000-20188800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:20172200-20180600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:20172800-20181600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:20173000-20182000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr2:20173000-20182000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:20173200-20177800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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