Variant report

Variant	nsv432591
Chromosome Location	chr4:44922068-45017576
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	BACH1	chr4:44929872-44930093	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr4:44929508-44929681	GM12878	blood:	n/a	n/a
3	BHLHE40	chr4:45015052-45015122	K562	blood:	n/a	n/a
4	CEBPB	chr4:45001825-45002129	HepG2	liver:	n/a	chr4:45001952-45001963
5	CEBPB	chr4:44952933-44953149	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr4:45001939-45002041	H1-hESC	embryonic stem cell:	n/a	chr4:45001952-45001963
7	CTCF	chr4:44988171-44988233	LNCaP	prostate:	n/a	n/a
8	CTCF	chr4:44929580-44929730	AG04450	lung:	n/a	n/a
9	CTCF	chr4:44929440-44929590	Hela-S3	cervix:	n/a	chr4:44929578-44929587 chr4:44929577-44929590
10	CTCF	chr4:44929520-44929670	GM12801	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
11	CTCF	chr4:44929480-44929630	GM12875	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
12	CTCF	chr4:44929500-44929650	HRPEpiC	eye:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
13	CTCF	chr4:44929392-44929714	HepG2	liver:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
14	CTCF	chr4:44929480-44929630	GM12870	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
15	CTCF	chr4:44929480-44929630	GM12865	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
16	CTCF	chr4:44929540-44929690	GM12871	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
17	CTCF	chr4:44929500-44929650	GM12864	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
18	CTCF	chr4:44929460-44929610	Hela-S3	cervix:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
19	CTCF	chr4:44933820-44933970	BE2_C	brain:	n/a	n/a
20	CTCF	chr4:44929500-44929650	BJ	skin:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
21	CTCF	chr4:44929500-44929650	SK-N-SH_RA	brain:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
22	CTCF	chr4:44929479-44929623	MCF-7	breast:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
23	CTCF	chr4:44933915-44933967	LNCaP	prostate:	n/a	n/a
24	CTCF	chr4:44929500-44929650	GM12878	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
25	CTCF	chr4:44929499-44929651	HepG2	liver:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
26	CTCF	chr4:44970400-44970550	BE2_C	brain:	n/a	n/a
27	CTCF	chr4:44929412-44929818	A549	lung:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
28	CTCF	chr4:44970140-44970290	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr4:44929517-44929642	Lung_OC	lung:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
30	CTCF	chr4:44929500-44929650	WERI-Rb-1	eye:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
31	CTCF	chr4:44929480-44929630	HCT-116	colon:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
32	CTCF	chr4:44929480-44929630	AG04449	skin:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
33	CTCF	chr4:44929660-44929810	HFF	foreskin:	n/a	n/a
34	CTCF	chr4:44929540-44929690	NHLF	lung:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
35	CTCF	chr4:44929540-44929690	K562	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
36	CTCF	chr4:44928520-44928670	GM06990	blood:	n/a	n/a
37	CTCF	chr4:44984356-44984406	LNCaP	prostate:	n/a	n/a
38	CTCF	chr4:44929520-44929670	SK-N-SH_RA	brain:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
39	CTCF	chr4:44970220-44970370	GM12872	blood:	n/a	n/a
40	CTCF	chr4:44929387-44929765	GM12878	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
41	CTCF	chr4:44929480-44929630	HAc	cerebellar:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
42	CTCF	chr4:44929560-44929710	NHEK	skin:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
43	CTCF	chr4:44929480-44929630	HPF	lung:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
44	CTCF	chr4:44929480-44929630	NHDF-neo	bronchial:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
45	CTCF	chr4:44929220-44929370	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr4:44929460-44929610	HEK293	kidney:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
47	CTCF	chr4:44929480-44929630	RPTEC	kidney:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
48	CTCF	chr4:44929460-44929610	HL-60	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592
49	CTCF	chr4:44929440-44929590	A549	lung:	n/a	chr4:44929578-44929587 chr4:44929577-44929590
50	CTCF	chr4:44929414-44929759	K562	blood:	n/a	chr4:44929576-44929597 chr4:44929578-44929587 chr4:44929577-44929590 chr4:44929574-44929592

No.	Distal block	Cell Line	Cell type
1	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:
2	chr4:44929284..44929932-chr4:45444142..45444893,3	MCF-7	breast:
3	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:
4	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:
5	chr4:44929424..44930054-chr4:46276256..46277090,2	MCF-7	breast:
6	chr4:44929522..44930049-chr4:45454935..45455917,3	MCF-7	breast:
7	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNPDA2-4	chr4:44946032-44946091	NONHSAT096232
2	lnc-GNPDA2-4	chr4:44946465-44946978	NONHSAT096232

Variant related genes	Relation type
PRDX4P1	TF binding region
ENSG00000248744	TF binding region

Extended variants
information (count: 3788 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3788 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2173106	chr4:44922068-44922069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182473954	chr4:44922091-44922092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542596001	chr4:44922217-44922218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369346762	chr4:44922232-44922233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188125765	chr4:44922337-44922338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528157475	chr4:44922346-44922347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551185668	chr4:44922367-44922368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571649985	chr4:44922395-44922396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546750086	chr4:44922484-44922485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192745585	chr4:44922497-44922498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532594520	chr4:44922514-44922515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567896116	chr4:44922568-44922569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57913554	chr4:44922658-44922659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141025468	chr4:44922861-44922862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536548436	chr4:44922901-44922902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548150706	chr4:44922904-44922905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73188331	chr4:44922935-44922936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550795843	chr4:44922992-44922993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569246044	chr4:44923002-44923003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577752469	chr4:44923018-44923019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187746411	chr4:44923020-44923021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556878032	chr4:44923022-44923023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77553470	chr4:44923026-44923027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2132690	chr4:44923041-44923042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113659340	chr4:44923046-44923047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572905710	chr4:44923088-44923089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551529522	chr4:44923104-44923105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567065353	chr4:44923286-44923287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143115771	chr4:44923344-44923345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192512917	chr4:44923392-44923393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532119270	chr4:44923474-44923475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373271878	chr4:44923541-44923542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371179429	chr4:44923545-44923546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200654950	chr4:44923546-44923547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74384289	chr4:44923547-44923548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536658005	chr4:44923570-44923571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75407878	chr4:44923663-44923664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78122672	chr4:44923664-44923665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9990760	chr4:44923754-44923755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185024075	chr4:44923786-44923787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555285601	chr4:44923790-44923791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148279586	chr4:44923814-44923815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566523874	chr4:44923822-44923823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189020570	chr4:44923872-44923873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76359916	chr4:44923936-44923937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192030468	chr4:44923937-44923938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567198172	chr4:44923943-44923944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10938372	chr4:44923958-44923959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150203164	chr4:44923962-44923963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116737857	chr4:44923966-44923967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44919200-44928400	Weak transcription	Psoas Muscle	Psoas
2	chr4:44921000-44928800	Weak transcription	Fetal Heart	heart
3	chr4:44924000-44924400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:44928000-44928600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:44928200-44928400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:44928400-44929000	Enhancers	Psoas Muscle	Psoas
7	chr4:44928800-44929000	Enhancers	Fetal Heart	heart
8	chr4:44929000-44929200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:44929000-44929400	Weak transcription	Fetal Heart	heart
10	chr4:44929400-44932400	Enhancers	Fetal Heart	heart
11	chr4:44929600-44930200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr4:44929600-44931000	Enhancers	Fetal Kidney	kidney
13	chr4:44929800-44930800	Enhancers	Stomach Mucosa	stomach
14	chr4:44929800-44931000	Enhancers	Fetal Lung	lung
15	chr4:44930000-44930200	Enhancers	Fetal Brain Male	brain
16	chr4:44930000-44930800	Enhancers	Fetal Intestine Small	intestine
17	chr4:44930000-44930800	Enhancers	Fetal Muscle Leg	muscle
18	chr4:44930000-44959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:44930200-44931200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:44930400-44930800	Enhancers	Pancreas	Pancrea
21	chr4:44931200-44931400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:44932000-44932400	Enhancers	Fetal Brain Male	brain
23	chr4:44932400-44932800	Weak transcription	Fetal Heart	heart
24	chr4:44932800-44933000	Enhancers	Fetal Heart	heart
25	chr4:44933000-44934800	Weak transcription	Fetal Heart	heart
26	chr4:44934800-44935200	Enhancers	Fetal Heart	heart
27	chr4:44941000-44941600	Enhancers	Brain Germinal Matrix	brain
28	chr4:44959200-44959800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:44959400-44959800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:44959400-44959800	Enhancers	HMEC	breast
31	chr4:44959800-44962200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:44959800-44963200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:44962200-44963000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:44962600-44966800	Enhancers	HMEC	breast
35	chr4:44963000-44964600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:44963200-44963600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:44963400-44964400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:44963600-44964400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:44963600-44965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:44964600-44965400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:44965400-44966000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:44965400-44966000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:44966000-44967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:44966000-44967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:44966800-44967200	Weak transcription	HMEC	breast
46	chr4:44967200-44968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:44967200-44969400	Enhancers	HMEC	breast
48	chr4:44967400-44967600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:44968000-44975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:44970200-44971000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links