Variant report

Variant	nsv528680
Chromosome Location	chr4:103807720-103832927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:103823033-103823354	GM12878	blood:	n/a	n/a
2	CTCF	chr4:103832580-103832730	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr4:103832600-103832750	GM12874	blood:	n/a	n/a
4	CTCF	chr4:103832580-103832730	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr4:103808119-103808206	Lung_OC	lung:	n/a	n/a
6	CTCF	chr4:103822411-103822417	GM10266	blood:	n/a	n/a
7	E2F4	chr4:103823836-103823972	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr4:103810987-103811562	MCF10A-Er-Src	breast:	n/a	chr4:103811188-103811195
9	FOS	chr4:103810990-103811726	MCF10A-Er-Src	breast:	n/a	chr4:103811188-103811195
10	FOS	chr4:103810987-103811557	MCF10A-Er-Src	breast:	n/a	chr4:103811188-103811195
11	FOS	chr4:103811020-103811535	MCF10A-Er-Src	breast:	n/a	chr4:103811188-103811195
12	FOSL2	chr4:103811117-103811515	HepG2	liver:	n/a	chr4:103811188-103811195 chr4:103811266-103811277
13	FOSL2	chr4:103811087-103811536	HepG2	liver:	n/a	chr4:103811188-103811195 chr4:103811266-103811277
14	FOSL2	chr4:103818692-103818943	HepG2	liver:	n/a	n/a
15	FOSL2	chr4:103822888-103823193	HepG2	liver:	n/a	n/a
16	FOXA1	chr4:103818799-103819117	HepG2	liver:	n/a	n/a
17	FOXA1	chr4:103822088-103822432	HepG2	liver:	n/a	n/a
18	HEY1	chr4:103817222-103817493	K562	blood:	n/a	n/a
19	JUND	chr4:103811207-103811384	HepG2	liver:	n/a	n/a
20	MAFK	chr4:103827408-103827471	HepG2	liver:	n/a	n/a
21	MYC	chr4:103810948-103811391	MCF10A-Er-Src	breast:	n/a	chr4:103811143-103811152
22	MYC	chr4:103811092-103811368	MCF10A-Er-Src	breast:	n/a	chr4:103811143-103811152
23	NFIC	chr4:103817663-103818179	GM12878	blood:	n/a	n/a
24	PAX5	chr4:103817998-103818400	GM12878	blood:	n/a	n/a
25	PAX5	chr4:103822301-103822487	GM12878	blood:	n/a	n/a
26	PAX5	chr4:103813356-103813530	GM12878	blood:	n/a	n/a
27	PBX3	chr4:103818172-103818310	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:103809757-103809924	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr4:103810933-103811230	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr4:103809838-103810419	K562	blood:	n/a	n/a
31	POLR2A	chr4:103815613-103815664	K562	blood:	n/a	n/a
32	POLR2A	chr4:103809793-103810139	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:103814722-103814817	K562	blood:	n/a	n/a
34	POLR2A	chr4:103810898-103811623	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr4:103811002-103811281	K562	blood:	n/a	n/a
36	POLR2A	chr4:103809795-103810016	K562	blood:	n/a	n/a
37	POLR2A	chr4:103809842-103810045	K562	blood:	n/a	n/a
38	POLR2A	chr4:103810995-103811549	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr4:103809492-103809634	K562	blood:	n/a	n/a
40	POU2F2	chr4:103822331-103822465	GM12878	blood:	n/a	n/a
41	RAD21	chr4:103809741-103810064	H1-hESC	embryonic stem cell:	n/a	n/a
42	RUNX3	chr4:103817696-103818069	GM12878	blood:	n/a	n/a
43	RUNX3	chr4:103817625-103818151	GM12878	blood:	n/a	n/a
44	RXRA	chr4:103818212-103818618	GM12878	blood:	n/a	n/a
45	RXRA	chr4:103818749-103818934	HepG2	liver:	n/a	n/a
46	RXRA	chr4:103818551-103819295	HepG2	liver:	n/a	n/a
47	SIN3AK20	chr4:103822289-103822393	HepG2	liver:	n/a	n/a
48	SIX5	chr4:103818688-103819000	K562	blood:	n/a	n/a
49	SIX5	chr4:103831477-103831719	K562	blood:	n/a	n/a
50	SIX5	chr4:103822232-103822561	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:103801030..103803497-chr4:103805639..103808341,2	K562	blood:
2	chr4:103802810..103805581-chr4:103812817..103815542,2	K562	blood:
3	chr4:103747946..103751403-chr4:103826007..103829702,3	K562	blood:
4	chr4:103747662..103750581-chr4:103808763..103811614,2	K562	blood:
5	chr4:103713400..103715221-chr4:103814511..103816662,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC9B2-1	chr4:103826671-103826807	NR_047515
2	lnc-CISD2-6	chr4:103817882-103819394	NONHSAT097617
3	lnc-SLC9B2-1	chr4:103827693-103827801	NR_047515
4	lnc-SLC9B2-1	chr4:103832588-103832694	NR_047515
5	lnc-SLC9B2-1	chr4:103831596-103831745	NR_047515
6	lnc-SLC9B2-1	chr4:103811738-103811830	NR_047515

No data

Variant related genes	Relation type
PABPC1P7	TF binding region
SLC9B1	TF binding region
ENSG00000109332	chromatin interactions
ENSG00000246560	chromatin interactions

Extended variants
information (count: 1052 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1052 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs223313	chr4:103807720-103807721	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72663171	chr4:103807746-103807747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72663172	chr4:103807751-103807752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10009572	chr4:103807752-103807753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184652005	chr4:103807753-103807754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548615401	chr4:103807776-103807777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560574796	chr4:103807789-103807790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377421159	chr4:103807822-103807823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371219415	chr4:103807827-103807828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142155016	chr4:103807832-103807833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370234686	chr4:103807844-103807845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527678517	chr4:103807861-103807862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552652016	chr4:103807920-103807921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368740787	chr4:103807921-103807922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375164514	chr4:103807969-103807970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570738822	chr4:103807977-103807978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368445434	chr4:103808018-103808019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370593421	chr4:103808020-103808021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375124529	chr4:103808030-103808031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538176641	chr4:103808052-103808053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368071311	chr4:103808054-103808055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371464658	chr4:103808056-103808057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549825771	chr4:103808118-103808119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568221497	chr4:103808132-103808133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535295991	chr4:103808153-103808154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559952981	chr4:103808184-103808185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541728309	chr4:103808225-103808226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17009211	chr4:103808267-103808268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571854838	chr4:103808335-103808336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112498106	chr4:103808381-103808382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189167287	chr4:103808383-103808384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575645825	chr4:103808410-103808411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544862255	chr4:103808429-103808430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201682974	chr4:103808458-103808459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563042809	chr4:103808486-103808487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199992363	chr4:103808515-103808516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201294540	chr4:103808519-103808520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3974627	chr4:103808572-103808573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3974628	chr4:103808595-103808596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113520032	chr4:103808818-103808819	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs574935569	chr4:103808835-103808836	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs542097737	chr4:103808851-103808852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560567283	chr4:103808858-103808859	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs7439174	chr4:103808862-103808863	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs3974630	chr4:103808915-103808916	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs4583764	chr4:103808985-103808986	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs4597834	chr4:103809010-103809011	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs527815582	chr4:103809013-103809014	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs552589871	chr4:103809030-103809031	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181140079	chr4:103809042-103809043	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103791200-103834800	Weak transcription	Ovary	ovary
2	chr4:103791400-103818600	Weak transcription	HSMMtube	muscle
3	chr4:103792200-103811000	Weak transcription	Osteobl	bone
4	chr4:103792800-103811400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:103793200-103810200	Weak transcription	HSMM	muscle
6	chr4:103796000-103809400	Weak transcription	HUVEC	blood vessel
7	chr4:103796000-103810800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:103796400-103811000	Weak transcription	Left Ventricle	heart
9	chr4:103796400-103819800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:103798600-103811000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:103798800-103811000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:103799000-103808200	Weak transcription	A549	lung
13	chr4:103799000-103808400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:103799000-103809400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:103799000-103809400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:103799000-103809800	Weak transcription	Lung	lung
17	chr4:103799000-103810000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:103799000-103810400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:103799000-103810600	Weak transcription	HMEC	breast
20	chr4:103799000-103811000	Weak transcription	Primary T cells from cord blood	blood
21	chr4:103799000-103811400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:103799000-103812800	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:103799000-103816800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:103799000-103817000	Weak transcription	Fetal Stomach	stomach
25	chr4:103799200-103810600	Weak transcription	Fetal Brain Female	brain
26	chr4:103799200-103811000	Weak transcription	Fetal Intestine Large	intestine
27	chr4:103799200-103812400	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:103799200-103812400	Weak transcription	Fetal Thymus	thymus
29	chr4:103799200-103817200	Weak transcription	Brain Germinal Matrix	brain
30	chr4:103799200-103819400	Weak transcription	Thymus	Thymus
31	chr4:103799400-103811000	Weak transcription	Primary B cells from cord blood	blood
32	chr4:103799600-103811200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:103799600-103812600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:103799800-103810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:103800000-103808200	Weak transcription	Adipose Nuclei	Adipose
36	chr4:103800000-103812600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:103800200-103811400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:103801000-103809800	Weak transcription	HepG2	liver
39	chr4:103801000-103811000	Weak transcription	Liver	Liver
40	chr4:103801400-103811400	Weak transcription	Fetal Intestine Small	intestine
41	chr4:103803000-103812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:103803600-103809400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:103803800-103809200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:103803800-103817200	Weak transcription	GM12878-XiMat	blood
45	chr4:103804200-103810400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:103804600-103808200	Weak transcription	Fetal Lung	lung
47	chr4:103804800-103808800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:103804800-103810000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:103804800-103819000	Weak transcription	K562	blood
50	chr4:103805600-103808000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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