Variant report

Variant	nsv872750
Chromosome Location	chr1:189922408-189968691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:189931343-189931650	K562	blood:	n/a	chr1:189931477-189931488
2	CEBPB	chr1:189951683-189951980	HepG2	liver:	n/a	chr1:189951847-189951858
3	CEBPB	chr1:189951723-189951923	IMR90	lung:	n/a	chr1:189951847-189951858
4	CEBPB	chr1:189931336-189931662	H1-hESC	embryonic stem cell:	n/a	chr1:189931477-189931488
5	CEBPB	chr1:189931285-189931729	Hela-S3	cervix:	n/a	chr1:189931477-189931488
6	CEBPB	chr1:189931301-189931644	A549	lung:	n/a	chr1:189931477-189931488
7	CEBPB	chr1:189966558-189966824	H1-hESC	embryonic stem cell:	n/a	chr1:189966685-189966696
8	CEBPB	chr1:189939563-189940466	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr1:189931297-189931650	HepG2	liver:	n/a	chr1:189931477-189931488
10	CEBPB	chr1:189931260-189931885	IMR90	lung:	n/a	chr1:189931477-189931488
11	CEBPB	chr1:189966532-189966826	HepG2	liver:	n/a	chr1:189966685-189966696
12	CEBPB	chr1:189929954-189930268	IMR90	lung:	n/a	n/a
13	CEBPB	chr1:189928876-189929095	HepG2	liver:	n/a	n/a
14	CEBPB	chr1:189931269-189931628	MCF-7	breast:	n/a	chr1:189931477-189931488
15	CEBPB	chr1:189931320-189931616	MCF-7	breast:	n/a	chr1:189931477-189931488
16	CEBPB	chr1:189966592-189966813	MCF-7	breast:	n/a	chr1:189966685-189966696
17	CEBPB	chr1:189966523-189966870	IMR90	lung:	n/a	chr1:189966685-189966696
18	CEBPB	chr1:189931361-189931770	HCT-116	colon:	n/a	chr1:189931477-189931488
19	CEBPB	chr1:189931325-189931700	A549	lung:	n/a	chr1:189931477-189931488
20	CEBPB	chr1:189931289-189931645	ECC-1	luminal epithelium:	n/a	chr1:189931477-189931488
21	CEBPB	chr1:189928860-189929131	IMR90	lung:	n/a	n/a
22	CEBPB	chr1:189931210-189931754	A549	lung:	n/a	chr1:189931477-189931488
23	CEBPB	chr1:189931271-189931675	ECC-1	luminal epithelium:	n/a	chr1:189931477-189931488
24	CEBPB	chr1:189931188-189931759	HCT-116	colon:	n/a	chr1:189931477-189931488
25	CEBPB	chr1:189966602-189966802	K562	blood:	n/a	chr1:189966685-189966696
26	CEBPB	chr1:189966553-189966843	A549	lung:	n/a	chr1:189966685-189966696
27	CHD2	chr1:189940977-189941029	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr1:189961249-189961379	K562	blood:	n/a	n/a
29	CTCF	chr1:189946380-189946530	GM12867	blood:	n/a	n/a
30	CTCF	chr1:189946440-189946590	GM12865	blood:	n/a	n/a
31	CTCF	chr1:189946458-189946546	A549	lung:	n/a	n/a
32	CTCF	chr1:189933900-189934050	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr1:189946463-189946539	K562	blood:	n/a	n/a
34	CTCF	chr1:189946539-189946626	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr1:189946460-189946610	NB4	blood:	n/a	n/a
36	CTCF	chr1:189933840-189933990	HCT-116	colon:	n/a	n/a
37	CTCF	chr1:189946520-189946670	BE2_C	brain:	n/a	n/a
38	CTCF	chr1:189933880-189934030	AG04450	lung:	n/a	n/a
39	CTCF	chr1:189946440-189946590	GM12872	blood:	n/a	n/a
40	CTCF	chr1:189933940-189934090	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:189946420-189946570	GM12872	blood:	n/a	n/a
42	CTCF	chr1:189939141-189939164	GM10248	blood:	n/a	n/a
43	CTCF	chr1:189933966-189934059	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr1:189946480-189946630	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr1:189946485-189946585	GM12878	blood:	n/a	n/a
46	CTCF	chr1:189946485-189946558	GM12891	blood:	n/a	n/a
47	CTCF	chr1:189946440-189946590	GM12875	blood:	n/a	n/a
48	CTCF	chr1:189958560-189958710	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr1:189961252-189961345	K562	blood:	n/a	n/a
50	CTCF	chr1:189933900-189934050	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:189923172..189925454-chr1:189927431..189929095,2	K562	blood:
2	chr1:189932756..189935546-chr1:189936578..189938193,2	MCF-7	breast:
3	chr1:189922474..189925578-chr1:189926076..189929394,4	MCF-7	breast:
4	chr1:189932756..189935546-chr1:189936578..189938193,2	MCF-7	breast:
5	chr1:189955705..189957975-chr1:189976972..189978590,2	K562	blood:
6	chr1:189939529..189941877-chr13:27345731..27348287,2	MCF-7	breast:
7	chr1:189923172..189925454-chr1:189927431..189929095,2	K562	blood:
8	chr1:189922474..189925578-chr1:189926076..189929394,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-5	chr1:189958700-189962227	NONHSAT008489

Variant related genes	Relation type
ENSG00000230987	TF binding region

Extended variants
information (count: 635 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547388311	chr1:189929600-189929601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570477179	chr1:189929624-189929625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115523541	chr1:189929661-189929662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556875370	chr1:189929675-189929676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570375257	chr1:189929691-189929692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535663253	chr1:189929722-189929723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371685249	chr1:189929737-189929738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147039545	chr1:189929745-189929746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541151020	chr1:189929763-189929764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557698428	chr1:189929790-189929791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577601717	chr1:189929808-189929809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543456417	chr1:189929824-189929825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562627925	chr1:189929850-189929851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193283478	chr1:189929886-189929887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74925860	chr1:189929898-189929899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561940793	chr1:189929901-189929902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527346906	chr1:189929949-189929950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547499956	chr1:189929960-189929961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570589440	chr1:189929963-189929964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138287726	chr1:189929966-189929967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142485030	chr1:189929979-189929980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570214213	chr1:189929981-189929982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12130856	chr1:189929983-189929984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555654447	chr1:189930004-189930005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183773200	chr1:189930063-189930064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534924071	chr1:189930103-189930104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557824844	chr1:189930156-189930157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574455415	chr1:189930217-189930218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143279307	chr1:189930250-189930251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548863636	chr1:189930255-189930256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76153436	chr1:189930263-189930264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576228144	chr1:189930280-189930281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61818984	chr1:189930351-189930352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542121473	chr1:189930364-189930365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148043504	chr1:189930373-189930374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572247662	chr1:189930392-189930393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142511203	chr1:189930394-189930395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541274325	chr1:189930402-189930403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564160495	chr1:189930408-189930409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533070953	chr1:189930416-189930417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561139785	chr1:189930431-189930432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549465493	chr1:189930442-189930443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563320488	chr1:189930506-189930507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs879565	chr1:189930533-189930534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549640025	chr1:189930534-189930535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566061969	chr1:189930545-189930546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534876121	chr1:189930577-189930578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141743862	chr1:189930669-189930670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4145682	chr1:189930670-189930671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4145681	chr1:189930673-189930674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Ewing''s sarcoma	17952124	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189929600-189931800	Enhancers	Duodenum Smooth Muscle	Duodenum
2	chr1:189929800-189930400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:189929800-189930400	Enhancers	Colon Smooth Muscle	Colon
4	chr1:189929800-189930400	Enhancers	Fetal Lung	lung
5	chr1:189929800-189930400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:189929800-189930400	Enhancers	Fetal Stomach	stomach
7	chr1:189929800-189930400	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:189929800-189930400	Enhancers	Stomach Smooth Muscle	stomach
9	chr1:189930000-189930200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:189930400-189931400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:189931000-189931800	Enhancers	NH-A	brain
12	chr1:189931000-189932000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:189931000-189932000	Enhancers	Fetal Intestine Small	intestine
14	chr1:189931200-189931800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:189931400-189931800	Enhancers	Aorta	Aorta
16	chr1:189931600-189931800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:189931600-189932000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:189931600-189932000	Enhancers	Fetal Intestine Large	intestine
19	chr1:189939000-189939800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:189939000-189940200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:189939000-189940400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:189939000-189940400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:189939200-189940000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:189939200-189940000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:189939200-189940200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:189939200-189940200	Enhancers	Fetal Intestine Small	intestine
27	chr1:189939400-189939800	Enhancers	Fetal Kidney	kidney
28	chr1:189939400-189940400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:189940400-189940800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:189940800-189942600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:189951600-189952200	Enhancers	Fetal Intestine Small	intestine
32	chr1:189951800-189952000	Enhancers	Fetal Intestine Large	intestine
33	chr1:189952000-189952600	Weak transcription	Fetal Intestine Large	intestine
34	chr1:189952200-189952600	Weak transcription	Fetal Intestine Small	intestine
35	chr1:189952600-189953800	Enhancers	Fetal Intestine Large	intestine
36	chr1:189952600-189954000	Enhancers	Fetal Intestine Small	intestine
37	chr1:189952800-189953800	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:189955600-189956200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:189956000-189956800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:189968400-189969600	Enhancers	A549	lung

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