Variant report

Variant	nsv516189
Chromosome Location	chr4:90866819-90952424
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	ARID3A	chr4:90915498-90916168	HepG2	liver:	n/a	n/a
2	ATF2	chr4:90948720-90949133	GM12878	blood:	n/a	n/a
3	BCL11A	chr4:90949609-90950037	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:90948808-90949047	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:90948754-90949039	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:90949419-90950090	GM12878	blood:	n/a	n/a
7	CEBPB	chr4:90902659-90902905	HepG2	liver:	n/a	chr4:90902759-90902770
8	CEBPB	chr4:90906567-90906708	HepG2	liver:	n/a	chr4:90906618-90906629
9	CEBPB	chr4:90919059-90919307	HepG2	liver:	n/a	chr4:90919170-90919181
10	CEBPB	chr4:90909401-90909715	HepG2	liver:	n/a	n/a
11	CEBPB	chr4:90876186-90876409	A549	lung:	n/a	n/a
12	CEBPB	chr4:90906484-90906786	H1-hESC	embryonic stem cell:	n/a	chr4:90906618-90906629
13	CEBPB	chr4:90876134-90876426	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr4:90909411-90909641	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr4:90919118-90919279	A549	lung:	n/a	chr4:90919170-90919181
16	CEBPB	chr4:90909376-90909718	IMR90	lung:	n/a	n/a
17	CEBPB	chr4:90915689-90916023	HepG2	liver:	n/a	n/a
18	CEBPB	chr4:90882186-90882605	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr4:90912487-90912734	HepG2	liver:	n/a	chr4:90912607-90912618 chr4:90912604-90912621
20	CEBPB	chr4:90919047-90919294	IMR90	lung:	n/a	chr4:90919170-90919181
21	CEBPB	chr4:90919120-90919207	H1-hESC	embryonic stem cell:	n/a	chr4:90919170-90919181
22	CEBPB	chr4:90929334-90929504	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr4:90876104-90876433	HepG2	liver:	n/a	n/a
24	CEBPB	chr4:90912492-90912717	A549	lung:	n/a	chr4:90912607-90912618 chr4:90912604-90912621
25	CEBPB	chr4:90876132-90876407	IMR90	lung:	n/a	n/a
26	CEBPB	chr4:90909420-90909712	A549	lung:	n/a	n/a
27	CHD2	chr4:90949359-90950066	GM12878	blood:	n/a	n/a
28	CHD2	chr4:90948731-90949063	GM12878	blood:	n/a	n/a
29	CTCF	chr4:90871120-90871156	ProgFib	skin:	n/a	chr4:90871120-90871141
30	CTCF	chr4:90946500-90946650	MCF-7	breast:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
31	CTCF	chr4:90946520-90946670	HPF	lung:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
32	CTCF	chr4:90871060-90871210	HVMF	connective:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
33	CTCF	chr4:90946540-90946690	GM12875	blood:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
34	CTCF	chr4:90946470-90946711	Medullo	brain:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
35	CTCF	chr4:90919560-90919710	BE2_C	brain:	n/a	n/a
36	CTCF	chr4:90919800-90919950	BE2_C	brain:	n/a	n/a
37	CTCF	chr4:90952218-90952390	HepG2	liver:	n/a	chr4:90952304-90952325 chr4:90952302-90952320
38	CTCF	chr4:90946460-90946610	WERI-Rb-1	eye:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
39	CTCF	chr4:90952220-90952370	AG09319	gingival:	n/a	chr4:90952304-90952325 chr4:90952302-90952320
40	CTCF	chr4:90946460-90946610	GM12878	blood:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
41	CTCF	chr4:90952320-90952470	RPTEC	kidney:	n/a	n/a
42	CTCF	chr4:90946500-90946650	BE2_C	brain:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
43	CTCF	chr4:90946480-90946630	HA-sp	spinal cord:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
44	CTCF	chr4:90871100-90871250	HUVEC	blood vessel:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
45	CTCF	chr4:90871040-90871190	GM12866	blood:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
46	CTCF	chr4:90952192-90952413	HUVEC	blood vessel:	n/a	chr4:90952304-90952325 chr4:90952302-90952320
47	CTCF	chr4:90946466-90946684	LNCaP	prostate:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
48	CTCF	chr4:90952183-90952414	Hela-S3	cervix:	n/a	chr4:90952304-90952325 chr4:90952302-90952320
49	CTCF	chr4:90946536-90946592	GM20000	blood:	n/a	n/a
50	CTCF	chr4:90952211-90952409	Kidney_OC	kidney:	n/a	chr4:90952304-90952325 chr4:90952302-90952320

No.	Distal block	Cell Line	Cell type
1	chr4:90952233..90952750-chr4:91214459..91215033,2	MCF-7	breast:
2	chr4:90923727..90925753-chr4:91047906..91049514,2	MCF-7	breast:
3	chr4:90931435..90933735-chr4:90933990..90936566,2	MCF-7	breast:
4	chr4:90931435..90933735-chr4:90933990..90936566,2	MCF-7	breast:
5	chr4:90950024..90952887-chr4:91047925..91049735,3	MCF-7	breast:
6	chr4:90949251..90952880-chr4:91047534..91049832,6	MCF-7	breast:

Variant related genes	Relation type
MMRN1	TF binding region
ENSG00000184305	chromatin interactions

Extended variants
information (count: 2258 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2258 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10516853	chr4:90866819-90866820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538065278	chr4:90866821-90866822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530215427	chr4:90866827-90866828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143097300	chr4:90866836-90866837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372173955	chr4:90866889-90866890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570224110	chr4:90866903-90866904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146662716	chr4:90866934-90866935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557287438	chr4:90866997-90866998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570916776	chr4:90867110-90867111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550798429	chr4:90867119-90867120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140260250	chr4:90867136-90867137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59377788	chr4:90867149-90867150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76000787	chr4:90867172-90867173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573716916	chr4:90867181-90867182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185186032	chr4:90867202-90867203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556345757	chr4:90867204-90867205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528076523	chr4:90867257-90867258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576224399	chr4:90867286-90867287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6532206	chr4:90867291-90867292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs565225381	chr4:90867336-90867337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572461901	chr4:90867367-90867368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190084624	chr4:90867384-90867385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551676953	chr4:90867399-90867400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145247159	chr4:90867414-90867415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181699158	chr4:90867455-90867456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371099983	chr4:90867461-90867462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550070920	chr4:90867467-90867468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375171811	chr4:90867468-90867469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532647238	chr4:90867519-90867520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552450433	chr4:90867534-90867535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78645091	chr4:90867541-90867542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533530976	chr4:90867555-90867556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138089356	chr4:90867598-90867599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556113103	chr4:90867751-90867752	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs536362081	chr4:90867791-90867792	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs556045544	chr4:90867800-90867801	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs140892851	chr4:90867805-90867806	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538877851	chr4:90867883-90867884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534146314	chr4:90867966-90867967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77311923	chr4:90867999-90868000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572396706	chr4:90868036-90868037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541406238	chr4:90868048-90868049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184860714	chr4:90868057-90868058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574795879	chr4:90868118-90868119	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs150133605	chr4:90868136-90868137	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs113949129	chr4:90868145-90868146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189236876	chr4:90868178-90868179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532733688	chr4:90868185-90868186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34859293	chr4:90868190-90868191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367784146	chr4:90868223-90868224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Multiple myeloma	17550852	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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Parkinson disease	17953491	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90854000-90867000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:90855000-90872400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:90856400-90867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:90856800-90878200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:90859200-90872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:90861400-90872400	Weak transcription	HUVEC	blood vessel
7	chr4:90867000-90867400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:90867000-90868400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:90867400-90872400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:90868400-90875600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:90869800-90870200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:90872000-90872800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:90872200-90872400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:90872400-90872800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr4:90872400-90872800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr4:90872400-90873600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:90872400-90873800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:90872400-90874000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:90872400-90874000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:90872400-90874200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:90872400-90876800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:90872400-90876800	Strong transcription	HUVEC	blood vessel
23	chr4:90872600-90872800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr4:90872600-90873600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:90872800-90873000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr4:90872800-90874000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:90872800-90874000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:90872800-90878600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:90873000-90873800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:90873600-90873800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:90873600-90873800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:90873600-90874600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:90873800-90874600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:90873800-90876200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:90873800-90876200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:90873800-90878200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:90874000-90874200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:90874000-90877800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:90874000-90878200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:90874000-90878400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:90874000-90878400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:90874200-90876400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:90874200-90878200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:90874600-90875200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:90874600-90876200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:90875200-90876400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:90875400-90878200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr4:90876200-90876400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:90876200-90876600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr4:90876200-90876800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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