Variant report

Variant	nsv872756
Chromosome Location	chr1:190164775-190287713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:253)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:190274629-190274755	K562	blood:	n/a	n/a
2	ATF1	chr1:190178487-190178619	K562	blood:	n/a	n/a
3	ATF1	chr1:190233999-190234159	K562	blood:	n/a	n/a
4	ATF1	chr1:190184878-190185078	K562	blood:	n/a	n/a
5	CEBPB	chr1:190219525-190219880	HepG2	liver:	n/a	chr1:190219706-190219717
6	CEBPB	chr1:190176891-190177259	IMR90	lung:	n/a	chr1:190177075-190177086
7	CEBPB	chr1:190176900-190177248	HepG2	liver:	n/a	chr1:190177075-190177086
8	CEBPB	chr1:190219531-190219891	Hela-S3	cervix:	n/a	chr1:190219706-190219717
9	CEBPB	chr1:190240204-190240347	A549	lung:	n/a	chr1:190240250-190240261
10	CEBPB	chr1:190176930-190177210	A549	lung:	n/a	chr1:190177075-190177086
11	CEBPB	chr1:190263436-190263479	H1-hESC	embryonic stem cell:	n/a	chr1:190263443-190263454
12	CEBPB	chr1:190265735-190265814	HepG2	liver:	n/a	n/a
13	CEBPB	chr1:190219518-190219893	A549	lung:	n/a	chr1:190219706-190219717
14	CEBPB	chr1:190240105-190240309	HepG2	liver:	n/a	chr1:190240250-190240261
15	CEBPB	chr1:190263314-190263549	A549	lung:	n/a	chr1:190263443-190263454
16	CEBPB	chr1:190219568-190219865	H1-hESC	embryonic stem cell:	n/a	chr1:190219706-190219717
17	CEBPB	chr1:190176916-190177249	Hela-S3	cervix:	n/a	chr1:190177075-190177086
18	CEBPB	chr1:190277364-190277599	IMR90	lung:	n/a	n/a
19	CEBPB	chr1:190265627-190265945	IMR90	lung:	n/a	n/a
20	CEBPB	chr1:190219555-190219875	K562	blood:	n/a	chr1:190219706-190219717
21	CEBPB	chr1:190277363-190277573	HepG2	liver:	n/a	n/a
22	CEBPB	chr1:190182300-190182553	HepG2	liver:	n/a	chr1:190182439-190182450
23	CEBPB	chr1:190263285-190263571	HepG2	liver:	n/a	chr1:190263443-190263454
24	CEBPB	chr1:190263296-190263616	IMR90	lung:	n/a	chr1:190263443-190263454
25	CEBPB	chr1:190240187-190240378	K562	blood:	n/a	chr1:190240250-190240261
26	CEBPB	chr1:190277395-190277633	A549	lung:	n/a	n/a
27	CEBPB	chr1:190219521-190219893	IMR90	lung:	n/a	chr1:190219706-190219717
28	CTCF	chr1:190195240-190195390	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr1:190239076-190239178	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:190195287-190195354	Medullo	brain:	n/a	n/a
31	CTCF	chr1:190195293-190195400	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:190202328-190202413	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:190239080-190239230	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:190224109-190224166	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr1:190239080-190239177	Gliobla	brain:	n/a	n/a
36	CTCF	chr1:190202334-190202426	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:190195200-190195350	BE2_C	brain:	n/a	n/a
38	CTCF	chr1:190238992-190239163	GM12878	blood:	n/a	n/a
39	CTCF	chr1:190195160-190195310	A549	lung:	n/a	n/a
40	CTCF	chr1:190202316-190202429	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:190202313-190202385	A549	lung:	n/a	n/a
42	CTCF	chr1:190239100-190239250	MCF-7	breast:	n/a	n/a
43	CTCF	chr1:190239122-190239166	LNCaP	prostate:	n/a	n/a
44	CTCF	chr1:190202372-190202397	ProgFib	skin:	n/a	n/a
45	CTCF	chr1:190239052-190239194	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:190195285-190195401	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr1:190195181-190195391	A549	lung:	n/a	n/a
48	CTCF	chr1:190195265-190195403	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:190202355-190202369	GM12891	blood:	n/a	n/a
50	CTCF	chr1:190183774-190183875	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190235227..190237750-chr1:190243938..190246342,2	K562	blood:
2	chr1:190206890..190208942-chr1:190211398..190214340,2	K562	blood:
3	chr1:190235227..190237750-chr1:190243938..190246342,2	K562	blood:
4	chr1:190228299..190231214-chr1:190232244..190234856,2	MCF-7	breast:
5	chr1:190266037..190267895-chr1:190270389..190272981,2	K562	blood:
6	chr1:190266037..190267895-chr1:190270389..190272981,2	K562	blood:
7	chr1:190116840..190117442-chr1:190254256..190254849,2	MCF-7	breast:
8	chr1:190173673..190175188-chr1:190177989..190179774,2	MCF-7	breast:
9	chr1:190191940..190193562-chr1:190194974..190197595,2	K562	blood:
10	chr1:190206890..190208942-chr1:190211398..190214340,2	K562	blood:
11	chr1:190173673..190175188-chr1:190177989..190179774,2	MCF-7	breast:
12	chr1:190111398..190114378-chr1:190180159..190181756,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-6	chr1:190271833-190271921	ENSG00000225811.1
2	lnc-RGS18-14	chr1:190245514-190247013	NONHSAT008492
3	lnc-RGS18-6	chr1:190234028-190234169	ENSG00000225811.1
4	lnc-RGS18-14	chr1:190211724-190211864	NONHSAT008492
5	lnc-RGS18-14	chr1:190201075-190201166	NONHSAT008492
6	lnc-RGS18-14	chr1:190200147-190200242	NONHSAT008492

No data

Variant related genes	Relation type
ENSG00000225811	TF binding region
BRINP3	TF binding region
ENSG00000225811	chromatin interactions
ENSG00000162670	chromatin interactions

Extended variants
information (count: 3144 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:3144 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs815330	chr1:190164775-190164776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185883282	chr1:190164836-190164837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548627377	chr1:190164841-190164842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559193827	chr1:190164855-190164856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568235487	chr1:190164861-190164862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190751033	chr1:190164871-190164872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12095582	chr1:190164905-190164906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140107094	chr1:190164931-190164932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377718700	chr1:190164938-190164939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184126310	chr1:190164946-190164947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538973173	chr1:190164981-190164982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558577753	chr1:190164996-190164997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187527766	chr1:190165004-190165005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544093136	chr1:190165030-190165031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554622074	chr1:190165055-190165056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149874056	chr1:190165056-190165057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80003841	chr1:190165059-190165060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371654038	chr1:190165107-190165108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560237674	chr1:190165117-190165118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532145248	chr1:190165123-190165124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192783496	chr1:190165165-190165166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113538008	chr1:190165179-190165180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182939692	chr1:190165218-190165219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144961699	chr1:190165325-190165326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368991510	chr1:190165353-190165354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142058551	chr1:190165382-190165383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187330775	chr1:190165439-190165440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191783714	chr1:190165489-190165490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146847097	chr1:190165533-190165534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184384472	chr1:190165562-190165563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533090415	chr1:190165581-190165582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189142280	chr1:190165590-190165591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377594640	chr1:190165599-190165600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539460051	chr1:190165606-190165607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192439472	chr1:190165675-190165676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139251621	chr1:190165677-190165678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538027869	chr1:190165681-190165682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530160677	chr1:190165707-190165708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185811383	chr1:190165712-190165713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574581187	chr1:190165713-190165714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141700343	chr1:190165730-190165731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201310383	chr1:190165788-190165789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551284040	chr1:190165855-190165856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553911579	chr1:190165861-190165862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576735959	chr1:190165864-190165865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545502026	chr1:190165867-190165868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78007266	chr1:190165868-190165869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531947570	chr1:190165869-190165870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542402375	chr1:190165870-190165871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189111217	chr1:190165876-190165877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190153400-190165000	Weak transcription	Fetal Heart	heart
2	chr1:190154000-190166600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:190165000-190165600	Enhancers	Fetal Heart	heart
4	chr1:190166600-190167000	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr1:190170600-190171400	ZNF genes & repeats	Fetal Intestine Large	intestine
6	chr1:190170800-190172000	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr1:190171400-190188000	Weak transcription	Fetal Intestine Large	intestine
8	chr1:190172000-190182200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:190174400-190175400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:190174400-190175600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:190174800-190175400	Enhancers	NH-A	brain
12	chr1:190188000-190188200	ZNF genes & repeats	Fetal Intestine Large	intestine
13	chr1:190188200-190190800	Weak transcription	Brain Angular Gyrus	brain
14	chr1:190193400-190195800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:190196800-190204200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:190208000-190208400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:190208400-190212000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:190211800-190212200	Enhancers	Brain Germinal Matrix	brain
19	chr1:190212000-190213200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:190212000-190213800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:190212200-190212600	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:190212200-190212600	Weak transcription	Brain Germinal Matrix	brain
23	chr1:190212600-190213600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:190212600-190213600	Enhancers	Brain Germinal Matrix	brain
25	chr1:190212800-190213800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:190213200-190215400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:190213800-190214000	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:190215400-190215600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:190215600-190215800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:190224600-190232600	Weak transcription	Fetal Intestine Large	intestine
31	chr1:190227000-190227400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:190227000-190228000	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr1:190228000-190244200	Weak transcription	Fetal Intestine Small	intestine
34	chr1:190249800-190267200	Weak transcription	Fetal Intestine Small	intestine
35	chr1:190264200-190264800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:190284000-190284600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:190284200-190284600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:190284600-190288000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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