Variant report

Variant	nsv1007212
Chromosome Location	chr4:92190510-92257591
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	chr4:92191483-92191539	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr4:92246684-92246980	GM12878	blood:	n/a	n/a
3	BATF	chr4:92246616-92246958	GM12878	blood:	n/a	n/a
4	BHLHE40	chr4:92223302-92223415	GM12878	blood:	n/a	n/a
5	CHD2	chr4:92223402-92223554	GM12878	blood:	n/a	n/a
6	CTCF	chr4:92247480-92247630	GM12874	blood:	n/a	n/a
7	CTCF	chr4:92236120-92236270	HVMF	connective:	n/a	n/a
8	CTCF	chr4:92247623-92247698	GM13976	blood:	n/a	n/a
9	CTCF	chr4:92224307-92224326	GM10266	blood:	n/a	n/a
10	CTCF	chr4:92196766-92196816	GM10248	blood:	n/a	n/a
11	CTCF	chr4:92237937-92237962	GM20000	blood:	n/a	n/a
12	CUX1	chr4:92217982-92218053	GM12878	blood:	n/a	n/a
13	E2F4	chr4:92225103-92225323	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr4:92210264-92210314	MCF10A-Er-Src	breast:	n/a	n/a
15	EBF1	chr4:92254085-92254285	GM12878	blood:	n/a	chr4:92254154-92254165
16	EP300	chr4:92233652-92233790	GM12878	blood:	n/a	n/a
17	EP300	chr4:92246620-92246949	SK-N-SH_RA	brain:	n/a	chr4:92246898-92246912
18	EP300	chr4:92229381-92229386	K562	blood:	n/a	n/a
19	EP300	chr4:92246505-92247133	SK-N-SH	brain:	n/a	chr4:92246526-92246533 chr4:92246898-92246912
20	EP300	chr4:92223291-92223465	GM12878	blood:	n/a	n/a
21	EP300	chr4:92210232-92210450	GM12878	blood:	n/a	n/a
22	EP300	chr4:92246540-92246754	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr4:92209990-92210316	GM12878	blood:	n/a	n/a
24	EP300	chr4:92223445-92223554	GM12878	blood:	n/a	n/a
25	ESR1	chr4:92246589-92246957	ECC-1	luminal epithelium:	n/a	n/a
26	FOS	chr4:92246734-92247049	HUVEC	blood vessel:	n/a	n/a
27	FOS	chr4:92251940-92252272	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:92210191-92210306	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:92246671-92247017	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr4:92251930-92252300	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr4:92246676-92247017	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:92222061-92222261	MCF10A-Er-Src	breast:	n/a	chr4:92222081-92222093 chr4:92222082-92222091 chr4:92222084-92222091 chr4:92222079-92222090
33	FOS	chr4:92246689-92247009	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr4:92246688-92246996	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr4:92251930-92252285	MCF10A-Er-Src	breast:	n/a	n/a
36	FOSL2	chr4:92246687-92247125	SK-N-SH	brain:	n/a	n/a
37	FOSL2	chr4:92251826-92252389	SK-N-SH	brain:	n/a	n/a
38	FOXA1	chr4:92193578-92193866	T-47D	breast:	n/a	chr4:92193697-92193712
39	FOXA1	chr4:92201074-92201311	T-47D	breast:	n/a	n/a
40	FOXA1	chr4:92229620-92229870	T-47D	breast:	n/a	n/a
41	GATA2	chr4:92240899-92241367	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr4:92199878-92200255	T-47D	breast:	n/a	n/a
43	GATA3	chr4:92241781-92242096	T-47D	breast:	n/a	chr4:92241934-92241941 chr4:92241927-92241948 chr4:92241933-92241943 chr4:92241934-92241941 chr4:92241930-92241946 chr4:92241934-92241941
44	GATA3	chr4:92241650-92242100	SH-SY5Y	brain:	n/a	chr4:92241733-92241743 chr4:92241934-92241941 chr4:92241927-92241948 chr4:92241933-92241943 chr4:92241934-92241941 chr4:92241930-92241946 chr4:92241934-92241941
45	GATA3	chr4:92199912-92200194	T-47D	breast:	n/a	n/a
46	GATA3	chr4:92246366-92247212	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr4:92246291-92247248	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr4:92241765-92242135	MCF-7	breast:	n/a	chr4:92241934-92241941 chr4:92241927-92241948 chr4:92241933-92241943 chr4:92241934-92241941 chr4:92241930-92241946 chr4:92241934-92241941
49	GATA3	chr4:92251736-92252312	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr4:92251771-92252428	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:92256031..92258951-chr4:92265643..92267671,2	MCF-7	breast:
2	chr4:92228930..92230474-chr4:92239556..92242007,2	K562	blood:
3	chr4:92249209..92252138-chr4:92252795..92255607,2	MCF-7	breast:
4	chr4:92249209..92252138-chr4:92252795..92255607,2	MCF-7	breast:
5	chr4:92228930..92230474-chr4:92239556..92242007,2	K562	blood:

Variant related genes	Relation type
ENSG00000249049	TF binding region

Extended variants
information (count: 754 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535071621	chr4:92190510-92190511	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555642273	chr4:92190511-92190512	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201813982	chr4:92190555-92190556	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538069205	chr4:92190578-92190579	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577093562	chr4:92190608-92190609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546145525	chr4:92190646-92190647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570803291	chr4:92190724-92190725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544394547	chr4:92190764-92190765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562786856	chr4:92190790-92190791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72877043	chr4:92190793-92190794	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs72877045	chr4:92190833-92190834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs151171689	chr4:92190866-92190867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542616010	chr4:92190905-92190906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563200135	chr4:92190927-92190928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531877260	chr4:92190933-92190934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545667291	chr4:92190954-92190955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530144137	chr4:92190963-92190964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527716378	chr4:92190965-92190966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200423566	chr4:92190969-92190970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565163115	chr4:92190974-92190975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527874369	chr4:92190986-92190987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546328734	chr4:92191071-92191072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538297860	chr4:92191081-92191082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559774147	chr4:92191082-92191083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140159600	chr4:92191088-92191089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149883754	chr4:92191090-92191091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569152103	chr4:92191158-92191159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188921040	chr4:92191159-92191160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553356467	chr4:92191226-92191227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192407415	chr4:92191243-92191244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571514865	chr4:92191275-92191276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541857858	chr4:92191444-92191445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184272581	chr4:92191490-92191491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73835111	chr4:92191581-92191582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368697772	chr4:92191589-92191590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201732606	chr4:92191591-92191592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536671724	chr4:92191595-92191596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373056735	chr4:92191658-92191659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376298198	chr4:92191732-92191733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74896120	chr4:92191777-92191778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576363244	chr4:92191852-92191853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545422648	chr4:92191916-92191917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565227627	chr4:92191922-92191923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144908230	chr4:92191932-92191933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62312001	chr4:92191935-92191936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559835032	chr4:92191970-92191971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141946541	chr4:92191979-92191980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371236442	chr4:92201255-92201256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548873295	chr4:92201347-92201348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116486837	chr4:92201350-92201351	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92188000-92190600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr4:92188600-92190800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:92188600-92191000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:92189000-92190600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:92189600-92190600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:92190200-92190600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:92190200-92190600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:92190200-92190600	Enhancers	Fetal Intestine Large	intestine
9	chr4:92190200-92191000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr4:92190400-92190800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:92190400-92192000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:92190600-92191000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:92190600-92191200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:92190800-92191000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:92190800-92191200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:92191000-92191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:92191000-92191800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:92191200-92192000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:92191400-92192000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:92201200-92201600	Enhancers	Left Ventricle	heart
21	chr4:92201200-92201800	Enhancers	Colonic Mucosa	Colon
22	chr4:92201400-92201800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:92201400-92202000	Enhancers	Right Ventricle	heart
24	chr4:92201400-92202200	Enhancers	Pancreas	Pancrea
25	chr4:92201600-92202200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:92201800-92204400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:92202200-92202400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:92202600-92205000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:92203400-92203800	Enhancers	Stomach Mucosa	stomach
30	chr4:92204400-92205800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:92204800-92205800	Enhancers	Fetal Intestine Large	intestine
32	chr4:92205000-92206000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:92205600-92206000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:92206000-92210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:92206600-92207200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:92206800-92207000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:92207000-92209600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:92208800-92209000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:92208800-92209200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:92209200-92209600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:92209600-92210200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:92209800-92210000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr4:92209800-92210600	Enhancers	Fetal Intestine Small	intestine
44	chr4:92218200-92218600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:92218200-92218600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:92231000-92231400	Enhancers	Gastric	stomach
47	chr4:92234600-92235000	Enhancers	Adipose Nuclei	Adipose
48	chr4:92236200-92236800	Enhancers	Fetal Heart	heart
49	chr4:92236800-92238600	Weak transcription	Fetal Heart	heart
50	chr4:92238600-92239000	Enhancers	Fetal Heart	heart

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