Variant report

Variant	nsv875620
Chromosome Location	chr2:191100723-191141593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:209)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:209 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:191134968-191135472	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:191136383-191137472	K562	blood:	n/a	n/a
3	ARID3A	chr2:191132127-191132228	K562	blood:	n/a	n/a
4	ARID3A	chr2:191131139-191131320	HepG2	liver:	n/a	n/a
5	ATF3	chr2:191134901-191135405	A549	lung:	n/a	n/a
6	ATF3	chr2:191132046-191132330	K562	blood:	n/a	n/a
7	BCL3	chr2:191134947-191135458	A549	lung:	n/a	n/a
8	BCL3	chr2:191134952-191135398	A549	lung:	n/a	n/a
9	BCLAF1	chr2:191136937-191137527	K562	blood:	n/a	n/a
10	BCLAF1	chr2:191136875-191137459	K562	blood:	n/a	n/a
11	BHLHE40	chr2:191135082-191135356	HepG2	liver:	n/a	n/a
12	CBX3	chr2:191131875-191132508	HCT-116	colon:	n/a	n/a
13	CBX3	chr2:191131909-191132433	HCT-116	colon:	n/a	n/a
14	CBX3	chr2:191106006-191106303	K562	blood:	n/a	n/a
15	CCNT2	chr2:191136454-191136983	K562	blood:	n/a	n/a
16	CEBPB	chr2:191103651-191103789	IMR90	lung:	n/a	n/a
17	CEBPB	chr2:191131935-191132391	A549	lung:	n/a	n/a
18	CEBPB	chr2:191136516-191136914	K562	blood:	n/a	n/a
19	CEBPB	chr2:191113518-191113632	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr2:191136420-191136908	K562	blood:	n/a	n/a
21	CEBPB	chr2:191135012-191135394	A549	lung:	n/a	n/a
22	CEBPB	chr2:191134956-191135473	A549	lung:	n/a	n/a
23	CEBPB	chr2:191136528-191136802	K562	blood:	n/a	n/a
24	CEBPB	chr2:191131974-191132356	IMR90	lung:	n/a	n/a
25	CEBPD	chr2:191136429-191137096	K562	blood:	n/a	n/a
26	CEBPD	chr2:191136412-191137042	K562	blood:	n/a	n/a
27	CREB1	chr2:191136401-191136978	K562	blood:	n/a	n/a
28	CTCF	chr2:191130080-191130230	GM12864	blood:	n/a	n/a
29	CTCF	chr2:191129633-191129670	ProgFib	skin:	n/a	n/a
30	CTCF	chr2:191118980-191119130	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr2:191101100-191101250	HL-60	blood:	n/a	n/a
32	CTCF	chr2:191141280-191141430	BE2_C	brain:	n/a	n/a
33	CTCF	chr2:191110432-191110503	GM13976	blood:	n/a	n/a
34	CUX1	chr2:191136434-191137422	K562	blood:	n/a	n/a
35	E2F4	chr2:191130149-191130252	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr2:191111000-191111195	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F6	chr2:191104389-191104510	K562	blood:	n/a	n/a
38	EGR1	chr2:191136548-191136725	K562	blood:	n/a	n/a
39	EGR1	chr2:191136460-191136890	K562	blood:	n/a	n/a
40	EP300	chr2:191136478-191137596	K562	blood:	n/a	chr2:191137193-191137207
41	EP300	chr2:191132140-191132228	K562	blood:	n/a	n/a
42	EP300	chr2:191131014-191131287	HepG2	liver:	n/a	n/a
43	EP300	chr2:191134833-191135508	A549	lung:	n/a	chr2:191135278-191135288 chr2:191135144-191135154
44	EP300	chr2:191134840-191135536	A549	lung:	n/a	chr2:191135278-191135288 chr2:191135144-191135154
45	EP300	chr2:191134969-191135441	HepG2	liver:	n/a	chr2:191135278-191135288 chr2:191135144-191135154
46	EP300	chr2:191137157-191137464	GM12878	blood:	n/a	chr2:191137193-191137207
47	ETS1	chr2:191135033-191135371	A549	lung:	n/a	n/a
48	FOS	chr2:191132023-191132478	MCF10A-Er-Src	breast:	n/a	chr2:191132224-191132235 chr2:191132201-191132212
49	FOS	chr2:191120547-191120733	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:191135222-191135266	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:191135269..191137265-chr2:191140643..191144192,4	K562	blood:
2	chr2:191139673..191142084-chr2:191144127..191146923,2	K562	blood:
3	chr2:191130994..191133022-chr2:191136196..191138667,2	K562	blood:
4	chr2:191140158..191142645-chr2:191177150..191178829,2	K562	blood:
5	chr2:191130994..191133022-chr2:191136196..191138667,2	K562	blood:
6	chr2:191120109..191122683-chr2:191126215..191128270,2	K562	blood:
7	chr2:191135877..191138606-chr2:191182929..191184673,3	K562	blood:
8	chr2:190986611..190987448-chr2:191141496..191142224,3	MCF-7	breast:
9	chr2:191130413..191132382-chr2:191136325..191138036,2	K562	blood:
10	chr2:191094730..191097098-chr2:191136539..191139119,2	K562	blood:
11	chr2:191135269..191137265-chr2:191140643..191144192,4	K562	blood:
12	chr2:191135876..191138298-chr2:191182929..191184673,2	K562	blood:
13	chr2:191121741..191124203-chr2:191135219..191137552,2	K562	blood:
14	chr2:191130413..191132382-chr2:191136325..191138036,2	K562	blood:
15	chr2:191120109..191122683-chr2:191126215..191128270,2	K562	blood:
16	chr2:191121741..191124203-chr2:191135219..191137552,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2orf88-3	chr2:191107786-191108123	l_2008_chr2:191107785-191141547_brain
2	lnc-C2orf88-3	chr2:191141042-191141599	l_2008_chr2:191107785-191141547_brain
3	lnc-C2orf88-3	chr2:191108852-191108962	l_2008_chr2:191107785-191141547_brain

No data

Variant related genes	Relation type
HIBCH	TF binding region
ENSG00000198130	chromatin interactions

Extended variants
information (count: 1661 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:1661 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16832456	chr2:191100723-191100724	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371686172	chr2:191100806-191100807	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112383101	chr2:191100823-191100824	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537566229	chr2:191100830-191100831	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547701260	chr2:191100843-191100844	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375328422	chr2:191100908-191100909	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548682013	chr2:191100929-191100930	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77391234	chr2:191100937-191100938	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559039375	chr2:191100941-191100942	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113664791	chr2:191100948-191100949	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537246613	chr2:191101000-191101001	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138974296	chr2:191101007-191101008	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200931672	chr2:191101082-191101083	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202193334	chr2:191101086-191101087	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112469972	chr2:191101087-191101088	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs66484047	chr2:191101088-191101089	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3838543	chr2:191101089-191101090	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181802982	chr2:191101160-191101161	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534911296	chr2:191101199-191101200	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142886216	chr2:191101223-191101224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574358692	chr2:191101280-191101281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372452272	chr2:191101317-191101318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16832459	chr2:191101354-191101355	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557038901	chr2:191101355-191101356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147411852	chr2:191101364-191101365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543616162	chr2:191101406-191101407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376700065	chr2:191101419-191101420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565126124	chr2:191101438-191101439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368772584	chr2:191101483-191101484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532696167	chr2:191101575-191101576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58778584	chr2:191101581-191101582	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139645067	chr2:191101623-191101624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186114561	chr2:191101631-191101632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530132322	chr2:191101638-191101639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141715953	chr2:191101646-191101647	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530871357	chr2:191101652-191101653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371060764	chr2:191101713-191101714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115684405	chr2:191101738-191101739	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77496023	chr2:191101739-191101740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150646599	chr2:191101744-191101745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139727029	chr2:191101757-191101758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189982653	chr2:191101758-191101759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546887699	chr2:191101866-191101867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10188044	chr2:191101867-191101868	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs535432398	chr2:191101896-191101897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10200496	chr2:191101928-191101929	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs181581808	chr2:191101934-191101935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539126117	chr2:191101937-191101938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542092872	chr2:191101942-191101943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553593259	chr2:191101974-191101975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1008 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:191056800-191131800	Weak transcription	NHEK	skin
4	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
6	chr2:191062400-191107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:191067600-191109200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:191073200-191109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:191076200-191107200	Weak transcription	GM12878-XiMat	blood
10	chr2:191077000-191106800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:191079400-191109400	Weak transcription	NH-A	brain
12	chr2:191079800-191106600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:191081000-191107200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:191081600-191107400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:191081800-191108800	Weak transcription	Fetal Heart	heart
16	chr2:191082000-191106600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:191082000-191107000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:191082000-191107000	Weak transcription	Left Ventricle	heart
19	chr2:191082000-191107200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:191082000-191107200	Weak transcription	Brain Anterior Caudate	brain
21	chr2:191082000-191107800	Weak transcription	Pancreas	Pancrea
22	chr2:191082600-191107000	Weak transcription	Right Ventricle	heart
23	chr2:191082800-191107200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:191083800-191106800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:191084800-191106600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:191087000-191108000	Weak transcription	K562	blood
27	chr2:191088400-191106800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:191088400-191107000	Weak transcription	Fetal Brain Male	brain
29	chr2:191088600-191106800	Weak transcription	HepG2	liver
30	chr2:191088800-191106600	Weak transcription	Fetal Thymus	thymus
31	chr2:191088800-191106800	Weak transcription	HSMMtube	muscle
32	chr2:191088800-191107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:191089000-191106200	Weak transcription	Adipose Nuclei	Adipose
34	chr2:191089000-191106200	Weak transcription	Fetal Lung	lung
35	chr2:191089000-191106200	Weak transcription	Placenta	Placenta
36	chr2:191089000-191106600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:191089000-191106600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:191089000-191106600	Weak transcription	Fetal Kidney	kidney
39	chr2:191089000-191106600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:191089000-191106600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:191089000-191106800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:191089000-191106800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:191089000-191107000	Weak transcription	Primary B cells from cord blood	blood
44	chr2:191089000-191107000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:191089000-191107600	Weak transcription	Spleen	Spleen
46	chr2:191089000-191128800	Weak transcription	Gastric	stomach
47	chr2:191089200-191106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:191089200-191106000	Weak transcription	Fetal Brain Female	brain
49	chr2:191089200-191106200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:191089200-191106600	Weak transcription	Duodenum Mucosa	Duodenum

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