Variant report

Variant	nsv961541
Chromosome Location	chr2:190172230-190181918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:190174127-190174327	K562	blood:	n/a	n/a
2	CTCF	chr2:190176245-190176360	ProgFib	skin:	n/a	n/a
3	CTCF	chr2:190175990-190176421	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:190176039-190176375	Gliobla	brain:	n/a	n/a
5	CTCF	chr2:190176020-190176170	GM12864	blood:	n/a	n/a
6	CTCF	chr2:190176025-190176342	HepG2	liver:	n/a	n/a
7	CTCF	chr2:190176140-190176290	GM12875	blood:	n/a	n/a
8	CTCF	chr2:190176140-190176290	MCF-7	breast:	n/a	n/a
9	CTCF	chr2:190176117-190176312	A549	lung:	n/a	n/a
10	CTCF	chr2:190176040-190176190	GM12865	blood:	n/a	n/a
11	CTCF	chr2:190175900-190176050	A549	lung:	n/a	n/a
12	CTCF	chr2:190175943-190176349	K562	blood:	n/a	n/a
13	CTCF	chr2:190176205-190176337	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr2:190175940-190176090	GM12872	blood:	n/a	n/a
15	CTCF	chr2:190176006-190176408	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:190176140-190176290	GM12865	blood:	n/a	n/a
17	CTCF	chr2:190176140-190176290	HCT-116	colon:	n/a	n/a
18	CTCF	chr2:190176040-190176190	K562	blood:	n/a	n/a
19	CTCF	chr2:190176220-190176370	HEK293	kidney:	n/a	n/a
20	CTCF	chr2:190176220-190176370	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr2:190176092-190176337	HepG2	liver:	n/a	n/a
22	CTCF	chr2:190175980-190176130	GM12873	blood:	n/a	n/a
23	CTCF	chr2:190176000-190176310	K562	blood:	n/a	n/a
24	CTCF	chr2:190176100-190176250	GM12873	blood:	n/a	n/a
25	CTCF	chr2:190176077-190176157	NHEK	skin:	n/a	n/a
26	CTCF	chr2:190176280-190176430	GM12874	blood:	n/a	n/a
27	CTCF	chr2:190176240-190176282	GM13977	blood:	n/a	n/a
28	CTCF	chr2:190176140-190176290	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr2:190176146-190176243	ProgFib	skin:	n/a	n/a
30	CTCF	chr2:190175968-190176274	K562	blood:	n/a	n/a
31	CTCF	chr2:190176004-190176406	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:190176008-190176353	K562	blood:	n/a	n/a
33	CTCF	chr2:190176060-190176210	HepG2	liver:	n/a	n/a
34	CTCF	chr2:190176214-190176223	GM19240	blood:	n/a	n/a
35	CTCF	chr2:190176040-190176200	GM19238	blood:	n/a	n/a
36	CTCF	chr2:190176031-190176275	GM12892	blood:	n/a	n/a
37	CTCF	chr2:190176280-190176430	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr2:190176160-190176310	HepG2	liver:	n/a	n/a
39	CTCF	chr2:190176007-190176402	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:190176140-190176290	GM12873	blood:	n/a	n/a
41	CTCF	chr2:190176207-190176302	Fibrobl	skin:	n/a	n/a
42	CTCF	chr2:190176271-190176294	GM19240	blood:	n/a	n/a
43	CTCF	chr2:190175849-190176384	K562	blood:	n/a	n/a
44	CTCF	chr2:190176075-190176153	GM19239	blood:	n/a	n/a
45	CTCF	chr2:190176077-190176163	GM12878	blood:	n/a	n/a
46	CTCF	chr2:190176140-190176290	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr2:190176160-190176310	GM12871	blood:	n/a	n/a
48	CTCF	chr2:190176100-190176250	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:190176078-190176184	Fibrobl	skin:	n/a	n/a
50	CTCF	chr2:190176200-190176350	HCFaa	heart:	n/a	n/a

No data

Variant related genes	Relation type
KRT18P19	TF binding region
ENSG00000266817	TF binding region

Extended variants
information (count: 356 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187324601	chr2:190172251-190172252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555033968	chr2:190172298-190172299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531164569	chr2:190172306-190172307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573335795	chr2:190172309-190172310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12994482	chr2:190172399-190172400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190233286	chr2:190172460-190172461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182964013	chr2:190172471-190172472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561615729	chr2:190172509-190172510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544929722	chr2:190172522-190172523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560342880	chr2:190172580-190172581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544891610	chr2:190172599-190172600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527475197	chr2:190172612-190172613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529210073	chr2:190172625-190172626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371231374	chr2:190172649-190172650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141900905	chr2:190172683-190172684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562144536	chr2:190172691-190172692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146269920	chr2:190172757-190172758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375482516	chr2:190172833-190172834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568051910	chr2:190172840-190172841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187484313	chr2:190172878-190172879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35023402	chr2:190172921-190172922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565121912	chr2:190172931-190172932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77145563	chr2:190172934-190172935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139313734	chr2:190172969-190172970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534111157	chr2:190173014-190173015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62183848	chr2:190173029-190173030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs372379427	chr2:190173090-190173091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565901755	chr2:190173092-190173093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533263718	chr2:190173101-190173102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567036919	chr2:190173109-190173110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537502152	chr2:190173127-190173128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58396131	chr2:190173128-190173129	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72914103	chr2:190173134-190173135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62182060	chr2:190173144-190173145	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572009254	chr2:190173167-190173168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148270855	chr2:190173197-190173198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185373179	chr2:190173205-190173206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11676905	chr2:190173222-190173223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572295129	chr2:190173226-190173227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114698215	chr2:190173301-190173302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62182061	chr2:190173329-190173330	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs61154892	chr2:190173331-190173332	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187402073	chr2:190173338-190173339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375645074	chr2:190173365-190173366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192251856	chr2:190173474-190173475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61528955	chr2:190173548-190173549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368935579	chr2:190173619-190173620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184313994	chr2:190173635-190173636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10174122	chr2:190173643-190173644	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188643795	chr2:190173652-190173653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190168400-190176200	Weak transcription	Pancreas	Pancrea
2	chr2:190169800-190174000	Weak transcription	Dnd41	blood
3	chr2:190170200-190176400	Weak transcription	Fetal Thymus	thymus
4	chr2:190170400-190173600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:190171000-190174200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:190171200-190172800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:190171200-190176200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:190171400-190172600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:190171400-190173600	Weak transcription	Stomach Mucosa	stomach
10	chr2:190171400-190176200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:190171600-190172800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:190171600-190174000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:190171800-190172800	Weak transcription	HSMMtube	muscle
14	chr2:190171800-190173600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:190172200-190172400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:190172200-190173000	Enhancers	Small Intestine	intestine
17	chr2:190172200-190173200	Enhancers	Fetal Intestine Large	intestine
18	chr2:190172200-190174200	Enhancers	Fetal Intestine Small	intestine
19	chr2:190172400-190174000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:190172600-190174200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:190172800-190173200	Enhancers	HSMMtube	muscle
22	chr2:190172800-190173800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:190172800-190174400	Enhancers	Duodenum Mucosa	Duodenum
24	chr2:190173000-190173800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:190173600-190174600	Enhancers	Stomach Mucosa	stomach
26	chr2:190173600-190174800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:190173600-190174800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:190173800-190174000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:190173800-190174400	Enhancers	Gastric	stomach
30	chr2:190174000-190174600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:190174000-190174600	Enhancers	Primary T cells from cord blood	blood
32	chr2:190174000-190174600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:190174000-190174600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr2:190174000-190174600	Enhancers	Dnd41	blood
35	chr2:190174200-190174400	Weak transcription	Fetal Intestine Small	intestine
36	chr2:190174200-190174600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:190174200-190177400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:190174600-190175600	Weak transcription	Primary T cells from cord blood	blood
39	chr2:190174600-190175800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:190174600-190176200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:190174600-190176400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:190174600-190177400	Weak transcription	Dnd41	blood
43	chr2:190174800-190176200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:190174800-190176400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:190175600-190175800	Enhancers	Primary T cells from cord blood	blood
46	chr2:190175600-190178200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:190175800-190176200	Weak transcription	Primary T cells from cord blood	blood
48	chr2:190175800-190177600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr2:190175800-190179200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:190176200-190176400	ZNF genes & repeats	Pancreas	Pancrea

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