Variant report

Variant	esv3324716
Chromosome Location	chr4:8320952-8325250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:8322318-8322343	HepG2	liver:	n/a	n/a
2	BHLHE40	chr4:8322202-8322402	K562	blood:	n/a	n/a
3	CEBPB	chr4:8324156-8324379	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr4:8322342-8322345	Fibrobl	skin:	n/a	n/a
5	CTCF	chr4:8322240-8322390	K562	blood:	n/a	n/a
6	CTCF	chr4:8322220-8322370	GM12875	blood:	n/a	n/a
7	CTCF	chr4:8322240-8322390	GM12864	blood:	n/a	n/a
8	CTCF	chr4:8322200-8322350	RPTEC	kidney:	n/a	n/a
9	CTCF	chr4:8322200-8322350	HFF-Myc	foreskin:	n/a	n/a
10	CTCF	chr4:8322234-8322378	GM10266	blood:	n/a	n/a
11	CTCF	chr4:8322260-8322410	GM12872	blood:	n/a	n/a
12	CTCF	chr4:8322151-8322487	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr4:8322243-8322378	Gliobla	brain:	n/a	n/a
14	CTCF	chr4:8322300-8322450	GM12873	blood:	n/a	n/a
15	CTCF	chr4:8322160-8322310	HPF	lung:	n/a	n/a
16	CTCF	chr4:8322235-8322399	MCF-7	breast:	n/a	n/a
17	CTCF	chr4:8322280-8322430	GM12868	blood:	n/a	n/a
18	CTCF	chr4:8322299-8322337	ProgFib	skin:	n/a	n/a
19	CTCF	chr4:8322240-8322390	GM12870	blood:	n/a	n/a
20	CTCF	chr4:8322260-8322410	GM12871	blood:	n/a	n/a
21	CTCF	chr4:8322220-8322370	AG04450	lung:	n/a	n/a
22	CTCF	chr4:8322260-8322410	MCF-7	breast:	n/a	n/a
23	CTCF	chr4:8322221-8322439	K562	blood:	n/a	n/a
24	CTCF	chr4:8322220-8322370	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr4:8321840-8321990	HVMF	connective:	n/a	n/a
26	CTCF	chr4:8322215-8322406	GM12878	blood:	n/a	n/a
27	CTCF	chr4:8322212-8322421	GM19240	blood:	n/a	n/a
28	CTCF	chr4:8322169-8322491	K562	blood:	n/a	n/a
29	CTCF	chr4:8322220-8322370	GM12870	blood:	n/a	n/a
30	CTCF	chr4:8322221-8322396	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:8322220-8322370	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr4:8322180-8322330	AG04449	skin:	n/a	n/a
33	CTCF	chr4:8322200-8322350	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr4:8322220-8322370	SAEC	small airway:	n/a	n/a
35	CTCF	chr4:8322238-8322399	MCF-7	breast:	n/a	n/a
36	CTCF	chr4:8322185-8322458	HepG2	liver:	n/a	n/a
37	CTCF	chr4:8322238-8322433	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr4:8322949-8323033	GM19239	blood:	n/a	n/a
39	CTCF	chr4:8322260-8322410	GM12873	blood:	n/a	n/a
40	CTCF	chr4:8322280-8322430	HRE	kidney:	n/a	n/a
41	CTCF	chr4:8322260-8322410	GM12865	blood:	n/a	n/a
42	CTCF	chr4:8322220-8322370	GM12878	blood:	n/a	n/a
43	CTCF	chr4:8322220-8322370	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr4:8322100-8322250	GM12868	blood:	n/a	n/a
45	CTCF	chr4:8322160-8322310	K562	blood:	n/a	n/a
46	CTCF	chr4:8322255-8322384	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr4:8322196-8322425	GM19238	blood:	n/a	n/a
48	CTCF	chr4:8322180-8322330	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr4:8322200-8322350	GM12867	blood:	n/a	n/a
50	CTCF	chr4:8322160-8322310	HMEC	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8322827..8325228-chr4:8329737..8331737,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HTRA3-1	chr4:8322008-8322249	NONHSAT095084
2	lnc-HTRA3-1	chr4:8323853-8323970	XLOC_003444
3	lnc-HTRA3-1	chr4:8323684-8323780	NONHSAT095084
4	lnc-HTRA3-1	chr4:8323923-8323970	XLOC_003444
5	lnc-HTRA3-1	chr4:8321887-8322249	XLOC_003444
6	lnc-HTRA3-1	chr4:8321863-8321895	NONHSAT095084
7	lnc-HTRA3-1	chr4:8323684-8323794	XLOC_003444
8	lnc-HTRA3-1	chr4:8323684-8323759	XLOC_003444
9	lnc-HTRA3-1	chr4:8322006-8322249	XLOC_003444

No data

Variant related genes	Relation type
ENSG00000248986	TF binding region
ENSG00000249145	TF binding region
TP53INP1	miRNA target sites

Extended variants
information (count: 179 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550983465	chr4:8320978-8320979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528991765	chr4:8320979-8320980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544334543	chr4:8321018-8321019	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572343857	chr4:8321048-8321049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73083686	chr4:8321060-8321061	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115953137	chr4:8321072-8321073	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs370114294	chr4:8321080-8321081	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs145977058	chr4:8321155-8321156	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs562311767	chr4:8321195-8321196	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs4696811	chr4:8321215-8321216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551365732	chr4:8321227-8321228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557749789	chr4:8321257-8321258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560444764	chr4:8321307-8321308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527281889	chr4:8321322-8321323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548924283	chr4:8321334-8321335	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs139803205	chr4:8321348-8321349	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs537904719	chr4:8321350-8321351	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs544357110	chr4:8321364-8321365	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs571847307	chr4:8321425-8321426	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs539284179	chr4:8321430-8321431	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs6447860	chr4:8321456-8321457	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182456887	chr4:8321474-8321475	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs527584510	chr4:8321491-8321492	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs536546275	chr4:8321494-8321495	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs533849618	chr4:8321509-8321510	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs141571367	chr4:8321522-8321523	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs187926795	chr4:8321666-8321667	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs193018677	chr4:8321679-8321680	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs565069315	chr4:8321692-8321693	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs4696812	chr4:8321709-8321710	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs150796704	chr4:8321768-8321769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs139179203	chr4:8321803-8321804	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560100454	chr4:8321805-8321806	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527553253	chr4:8321827-8321828	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs9996392	chr4:8321865-8321866	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567164827	chr4:8321929-8321930	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs560852352	chr4:8321948-8321949	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs73226013	chr4:8321959-8321960	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551085192	chr4:8321986-8321987	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs4696813	chr4:8321994-8321995	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532252451	chr4:8322010-8322011	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs547921359	chr4:8322014-8322015	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs566165993	chr4:8322045-8322046	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs149962001	chr4:8322071-8322072	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs57108914	chr4:8322083-8322084	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs184058036	chr4:8322090-8322091	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs569695653	chr4:8322091-8322092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs144987224	chr4:8322135-8322136	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs558618313	chr4:8322193-8322194	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs377618527	chr4:8322195-8322196	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8316600-8321000	Enhancers	Fetal Heart	heart
2	chr4:8317600-8322800	Weak transcription	Fetal Kidney	kidney
3	chr4:8317600-8323000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:8317800-8326200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:8318000-8321000	Weak transcription	Adipose Nuclei	Adipose
6	chr4:8318000-8321400	Weak transcription	Fetal Lung	lung
7	chr4:8318000-8321800	Weak transcription	Esophagus	oesophagus
8	chr4:8318000-8322000	Weak transcription	Spleen	Spleen
9	chr4:8318200-8321000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:8318200-8321000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:8318200-8321200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:8318200-8321200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:8318200-8321200	Weak transcription	NHDF-Ad	bronchial
14	chr4:8318200-8321400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:8318200-8321800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:8318200-8322000	Weak transcription	Fetal Intestine Large	intestine
17	chr4:8318200-8322000	Weak transcription	Lung	lung
18	chr4:8318400-8321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:8318600-8321000	Weak transcription	Fetal Stomach	stomach
20	chr4:8318600-8321000	Weak transcription	HMEC	breast
21	chr4:8318600-8321200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:8318600-8321200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:8318600-8321200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:8318600-8321200	Weak transcription	NHEK	skin
25	chr4:8318600-8324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:8318600-8325000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:8319000-8321000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:8319000-8321600	Weak transcription	HSMM	muscle
29	chr4:8319000-8321600	Weak transcription	HSMMtube	muscle
30	chr4:8319200-8321400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:8319200-8321600	Weak transcription	Fetal Thymus	thymus
32	chr4:8319200-8324200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:8319200-8326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:8319400-8321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:8319400-8321400	Weak transcription	Colonic Mucosa	Colon
36	chr4:8319400-8324200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:8320600-8322400	Enhancers	Right Atrium	heart
38	chr4:8320600-8323000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:8320800-8321200	Enhancers	Psoas Muscle	Psoas
40	chr4:8320800-8321800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr4:8320800-8322400	Enhancers	Fetal Muscle Trunk	muscle
42	chr4:8320800-8322400	Enhancers	Left Ventricle	heart
43	chr4:8320800-8322400	Enhancers	Ovary	ovary
44	chr4:8320800-8322400	Enhancers	Right Ventricle	heart
45	chr4:8320800-8322600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr4:8320800-8322600	Enhancers	Fetal Muscle Leg	muscle
47	chr4:8320800-8323200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr4:8320800-8323400	Enhancers	Colon Smooth Muscle	Colon
49	chr4:8321000-8321200	Flanking Active TSS	Fetal Heart	heart
50	chr4:8321000-8321400	Enhancers	Stomach Smooth Muscle	stomach

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