Variant report

Variant	esv1817388
Chromosome Location	chr4:10208598-10246264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:0)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:10242016-10242400	K562	blood:	n/a	n/a
2	ARID3A	chr4:10241023-10241142	K562	blood:	n/a	n/a
3	ATF1	chr4:10241521-10242349	K562	blood:	n/a	n/a
4	ATF3	chr4:10241484-10241931	K562	blood:	n/a	chr4:10241683-10241696
5	BACH1	chr4:10236419-10236458	K562	blood:	n/a	n/a
6	BHLHE40	chr4:10239996-10240058	K562	blood:	n/a	n/a
7	BHLHE40	chr4:10241629-10242291	K562	blood:	n/a	n/a
8	BHLHE40	chr4:10215328-10215399	K562	blood:	n/a	n/a
9	CBX3	chr4:10215024-10215411	K562	blood:	n/a	n/a
10	CCNT2	chr4:10241954-10242255	K562	blood:	n/a	n/a
11	CEBPD	chr4:10241894-10242416	K562	blood:	n/a	n/a
12	CEBPD	chr4:10241866-10242444	K562	blood:	n/a	n/a
13	CHD2	chr4:10241787-10242039	K562	blood:	n/a	n/a
14	CTCF	chr4:10237724-10237763	GM10248	blood:	n/a	n/a
15	CTCF	chr4:10242115-10242149	K562	blood:	n/a	n/a
16	CTCF	chr4:10240600-10240750	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr4:10228620-10228770	AG10803	skin:	n/a	n/a
18	CTCF	chr4:10239912-10240151	K562	blood:	n/a	n/a
19	CTCF	chr4:10228640-10228790	AG10803	skin:	n/a	n/a
20	CTCF	chr4:10223320-10223470	GM12871	blood:	n/a	n/a
21	CTCF	chr4:10239880-10240030	AG09309	skin:	n/a	n/a
22	CUX1	chr4:10240929-10241223	K562	blood:	n/a	n/a
23	CUX1	chr4:10234230-10234432	K562	blood:	n/a	n/a
24	CUX1	chr4:10231375-10231514	K562	blood:	n/a	n/a
25	CUX1	chr4:10216907-10216974	K562	blood:	n/a	n/a
26	CUX1	chr4:10241999-10242285	K562	blood:	n/a	n/a
27	E2F6	chr4:10241829-10242032	K562	blood:	n/a	n/a
28	EP300	chr4:10222976-10223159	K562	blood:	n/a	n/a
29	EP300	chr4:10242062-10242284	K562	blood:	n/a	n/a
30	EP300	chr4:10238758-10238937	K562	blood:	n/a	n/a
31	EP300	chr4:10244403-10244685	K562	blood:	n/a	n/a
32	EP300	chr4:10215339-10215503	K562	blood:	n/a	n/a
33	EP300	chr4:10228752-10228903	GM12878	blood:	n/a	n/a
34	EP300	chr4:10241567-10242501	K562	blood:	n/a	n/a
35	EP300	chr4:10239972-10240048	K562	blood:	n/a	n/a
36	FOS	chr4:10211872-10212674	HUVEC	blood vessel:	n/a	chr4:10212308-10212316
37	FOS	chr4:10213970-10214925	HUVEC	blood vessel:	n/a	chr4:10214267-10214278
38	GATA1	chr4:10241739-10242645	PBDE	blood:	n/a	chr4:10242157-10242164
39	GATA2	chr4:10241945-10242364	K562	blood:	n/a	chr4:10242157-10242164
40	GATA2	chr4:10214031-10214970	HUVEC	blood vessel:	n/a	n/a
41	HCFC1	chr4:10241385-10242085	K562	blood:	n/a	n/a
42	HMGN3	chr4:10242009-10242237	K562	blood:	n/a	n/a
43	IRF1	chr4:10215187-10215269	K562	blood:	n/a	n/a
44	IRF1	chr4:10241926-10242295	K562	blood:	n/a	n/a
45	IRF1	chr4:10208592-10208604	K562	blood:	n/a	n/a
46	JUN	chr4:10241652-10242281	K562	blood:	n/a	n/a
47	JUND	chr4:10242710-10242853	K562	blood:	n/a	n/a
48	JUND	chr4:10224432-10224665	K562	blood:	n/a	n/a
49	JUND	chr4:10211444-10211544	K562	blood:	n/a	n/a
50	JUND	chr4:10241470-10242360	K562	blood:	n/a	n/a

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
2	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
3	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
4	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
5	chr4:10119817..10122040-chr4:10243013..10245878,2	K562	blood:
6	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
7	chr4:10174527..10176209-chr4:10240126..10241692,2	K562	blood:
8	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
9	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
10	chr4:10119817..10121406-chr4:10243789..10245878,2	K562	blood:
11	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
12	chr4:10118238..10121011-chr4:10211759..10213607,2	K562	blood:
13	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
14	chr4:10182491..10184302-chr4:10237283..10239761,2	K562	blood:
15	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
16	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
17	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
18	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
19	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
20	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
21	chr4:10181292..10183606-chr4:10239969..10241672,2	K562	blood:
22	chr4:10244335..10247662-chr4:10255817..10258798,3	K562	blood:
23	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
24	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
25	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
26	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
27	chr4:10239005..10240530-chr4:10240711..10243694,2	K562	blood:
28	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
29	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
30	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
31	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
32	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
33	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
34	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
35	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
36	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
37	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
38	chr4:10207125..10208799-chr4:10284967..10286577,2	K562	blood:
39	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
40	chr4:10242448..10244811-chr4:10340269..10342798,2	K562	blood:
41	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
42	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271544	TF binding region
ENSG00000250040	chromatin interactions
ENSG00000271544	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 1707 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1707 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571380571	chr4:10208603-10208604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116796391	chr4:10208635-10208636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558229372	chr4:10208644-10208645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs386671620	chr4:10208656-10208657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs79248861	chr4:10208659-10208660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77334887	chr4:10208662-10208663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76661804	chr4:10208663-10208664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74449170	chr4:10208665-10208666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74888919	chr4:10208667-10208668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs578119703	chr4:10208669-10208670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375856980	chr4:10208670-10208671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77390075	chr4:10208671-10208672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78194126	chr4:10208672-10208673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75247836	chr4:10208675-10208676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74600185	chr4:10208677-10208678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78721952	chr4:10208679-10208680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75673981	chr4:10208680-10208681	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150438604	chr4:10208683-10208684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6812759	chr4:10208686-10208687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75052793	chr4:10208688-10208689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547153406	chr4:10208710-10208711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566644414	chr4:10208716-10208717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533982738	chr4:10208718-10208719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555350265	chr4:10208720-10208721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567309973	chr4:10208721-10208722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6812780	chr4:10208725-10208726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs200695779	chr4:10208745-10208746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536552396	chr4:10208756-10208757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368818632	chr4:10208766-10208767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6826450	chr4:10208778-10208779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs6845818	chr4:10208794-10208795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74316385	chr4:10208795-10208796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535080783	chr4:10208808-10208809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78108713	chr4:10208823-10208824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201122614	chr4:10208841-10208842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146542919	chr4:10208858-10208859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371693500	chr4:10208875-10208876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572177710	chr4:10208879-10208880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542706648	chr4:10208880-10208881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6855489	chr4:10208888-10208889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs531334702	chr4:10208898-10208899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13119002	chr4:10208903-10208904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565172066	chr4:10208904-10208905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77696829	chr4:10208962-10208963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547191966	chr4:10208981-10208982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565496314	chr4:10208992-10208993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191141866	chr4:10208997-10208998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549060549	chr4:10209022-10209023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567579800	chr4:10209024-10209025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141245917	chr4:10209033-10209034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10207200-10214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10207800-10210000	Enhancers	HSMMtube	muscle
3	chr4:10207800-10214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:10208200-10208800	Enhancers	Placenta	Placenta
5	chr4:10208400-10211200	Weak transcription	K562	blood
6	chr4:10211200-10212200	Enhancers	K562	blood
7	chr4:10212000-10212200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:10212000-10212200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:10212000-10212400	Enhancers	HUVEC	blood vessel
10	chr4:10212200-10214800	Weak transcription	K562	blood
11	chr4:10212400-10213600	Weak transcription	HUVEC	blood vessel
12	chr4:10213600-10214200	Enhancers	HUVEC	blood vessel
13	chr4:10213600-10214800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:10213600-10215000	Enhancers	NHEK	skin
15	chr4:10213800-10214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:10214000-10215000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:10214600-10215200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:10214800-10215400	Enhancers	K562	blood
19	chr4:10215200-10215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:10215400-10219400	Weak transcription	K562	blood
21	chr4:10215600-10216200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:10216200-10220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:10219400-10220000	Enhancers	K562	blood
24	chr4:10220000-10222400	Weak transcription	K562	blood
25	chr4:10222400-10223400	Enhancers	K562	blood
26	chr4:10223400-10233800	Weak transcription	K562	blood
27	chr4:10225800-10227600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:10226000-10227400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr4:10226400-10227000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr4:10228000-10228400	Enhancers	Osteobl	bone
31	chr4:10228000-10229000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:10228200-10229000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:10233400-10234600	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:10233800-10234600	Enhancers	K562	blood
35	chr4:10234600-10236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:10234600-10238600	Weak transcription	K562	blood
37	chr4:10238000-10257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:10238600-10241800	Enhancers	K562	blood
39	chr4:10239800-10244200	Enhancers	HSMMtube	muscle
40	chr4:10240600-10243600	Enhancers	Fetal Heart	heart
41	chr4:10241000-10241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:10241200-10243000	Enhancers	Fetal Stomach	stomach
43	chr4:10241400-10242000	Enhancers	Brain Hippocampus Middle	brain
44	chr4:10241800-10242200	Flanking Active TSS	K562	blood
45	chr4:10241800-10242800	Enhancers	Fetal Muscle Leg	muscle
46	chr4:10242000-10242600	Enhancers	Left Ventricle	heart
47	chr4:10242200-10246200	Enhancers	K562	blood
48	chr4:10242400-10242800	Enhancers	Fetal Lung	lung
49	chr4:10243600-10246200	Weak transcription	Fetal Heart	heart
50	chr4:10244000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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