Variant report

Variant	nsv1015085
Chromosome Location	chr4:10214160-10244955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:100)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:100 , 50 per page) page: 1 2

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	chr4:10215328-10215399	K562	blood:	n/a	n/a
7	BHLHE40	chr4:10241629-10242291	K562	blood:	n/a	n/a
8	BHLHE40	chr4:10239996-10240058	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	chr4:10228640-10228790	AG10803	skin:	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	chr4:10237724-10237763	GM10248	blood:	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	chr4:10231375-10231514	K562	blood:	n/a	n/a
23	CUX1	chr4:10216907-10216974	K562	blood:	n/a	n/a
24	CUX1	chr4:10241999-10242285	K562	blood:	n/a	n/a
25	CUX1	chr4:10234230-10234432	K562	blood:	n/a	n/a
26	CUX1	chr4:10240929-10241223	K562	blood:	n/a	n/a
27	E2F6	chr4:10241829-10242032	K562	blood:	n/a	n/a
28	EP300	chr4:10228752-10228903	GM12878	blood:	n/a	n/a
29	EP300	chr4:10242062-10242284	K562	blood:	n/a	n/a
30	EP300	chr4:10239972-10240048	K562	blood:	n/a	n/a
31	EP300	chr4:10244403-10244685	K562	blood:	n/a	n/a
32	EP300	chr4:10222976-10223159	K562	blood:	n/a	n/a
33	EP300	chr4:10241567-10242501	K562	blood:	n/a	n/a
34	EP300	chr4:10238758-10238937	K562	blood:	n/a	n/a
35	EP300	chr4:10215339-10215503	K562	blood:	n/a	n/a
36	FOS	chr4:10213970-10214925	HUVEC	blood vessel:	n/a	chr4:10214267-10214278
37	GATA1	chr4:10241739-10242645	PBDE	blood:	n/a	chr4:10242157-10242164
38	GATA2	chr4:10241945-10242364	K562	blood:	n/a	chr4:10242157-10242164
39	GATA2	chr4:10214031-10214970	HUVEC	blood vessel:	n/a	n/a
40	HCFC1	chr4:10241385-10242085	K562	blood:	n/a	n/a
41	HMGN3	chr4:10242009-10242237	K562	blood:	n/a	n/a
42	IRF1	chr4:10241926-10242295	K562	blood:	n/a	n/a
43	IRF1	chr4:10215187-10215269	K562	blood:	n/a	n/a
44	JUN	chr4:10241652-10242281	K562	blood:	n/a	n/a
45	JUND	chr4:10224432-10224665	K562	blood:	n/a	n/a
46	JUND	chr4:10241470-10242360	K562	blood:	n/a	n/a
47	JUND	chr4:10215062-10215157	K562	blood:	n/a	n/a
48	JUND	chr4:10242710-10242853	K562	blood:	n/a	n/a
49	KAP1	chr4:10214572-10215026	K562	blood:	n/a	n/a
50	MAFF	chr4:10241517-10242261	K562	blood:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1354 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1354 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs728663	chr4:10214160-10214161	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs55662784	chr4:10214209-10214210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142707185	chr4:10214232-10214233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556756268	chr4:10214315-10214316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138629141	chr4:10214331-10214332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538767709	chr4:10214370-10214371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115843262	chr4:10214399-10214400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148907184	chr4:10214484-10214485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78040053	chr4:10214532-10214533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372100254	chr4:10214553-10214554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574931285	chr4:10214575-10214576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143621648	chr4:10214697-10214698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541981922	chr4:10214715-10214716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188470963	chr4:10214736-10214737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576298176	chr4:10214744-10214745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190507684	chr4:10214777-10214778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147976068	chr4:10214843-10214844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141653806	chr4:10214850-10214851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182714868	chr4:10214861-10214862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547153350	chr4:10214876-10214877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145966008	chr4:10214913-10214914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59353256	chr4:10214968-10214969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527736028	chr4:10215026-10215027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61463523	chr4:10215064-10215065	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12512244	chr4:10215072-10215073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs57317300	chr4:10215139-10215140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550472358	chr4:10215165-10215166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571905815	chr4:10215179-10215180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138596854	chr4:10215205-10215206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2080073	chr4:10215223-10215224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs572111682	chr4:10215275-10215276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186994582	chr4:10215294-10215295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111936460	chr4:10215295-10215296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146128686	chr4:10215422-10215423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191607169	chr4:10215444-10215445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184312672	chr4:10215448-10215449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189192553	chr4:10215499-10215500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112101982	chr4:10215549-10215550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193056644	chr4:10215565-10215566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185569145	chr4:10215567-10215568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576695596	chr4:10215607-10215608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80337908	chr4:10215608-10215609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10032192	chr4:10215617-10215618	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114270329	chr4:10215656-10215657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139948751	chr4:10215658-10215659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10025782	chr4:10215707-10215708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149846975	chr4:10215773-10215774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115397044	chr4:10215789-10215790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2008732	chr4:10215845-10215846	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs57477687	chr4:10215861-10215862	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

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
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:40 , 50 per page) page: 1

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

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