Variant report

Variant	nsv1012386
Chromosome Location	chr4:10195627-10210101
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	chr4:10206944-10207053	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:10202441-10202778	K562	blood:	n/a	n/a
3	ARID3A	chr4:10206912-10207070	K562	blood:	n/a	n/a
4	ATF1	chr4:10199601-10200004	K562	blood:	n/a	n/a
5	BACH1	chr4:10203548-10203807	K562	blood:	n/a	n/a
6	BCL3	chr4:10206907-10207282	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:10205400-10206307	K562	blood:	n/a	n/a
8	BHLHE40	chr4:10202450-10202808	K562	blood:	n/a	n/a
9	BHLHE40	chr4:10199645-10199963	K562	blood:	n/a	n/a
10	BHLHE40	chr4:10207080-10207159	K562	blood:	n/a	n/a
11	CBX3	chr4:10202326-10202914	K562	blood:	n/a	n/a
12	CBX3	chr4:10205085-10205934	K562	blood:	n/a	n/a
13	CBX3	chr4:10199584-10200081	K562	blood:	n/a	n/a
14	CCNT2	chr4:10205478-10205881	K562	blood:	n/a	n/a
15	CEBPB	chr4:10207049-10207196	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:10204959-10205937	K562	blood:	n/a	chr4:10205836-10205844 chr4:10205110-10205121
17	CEBPB	chr4:10195735-10195985	A549	lung:	n/a	n/a
18	CEBPB	chr4:10204944-10205268	HepG2	liver:	n/a	chr4:10205110-10205121
19	CEBPB	chr4:10195806-10195900	HepG2	liver:	n/a	n/a
20	CEBPB	chr4:10205485-10205827	K562	blood:	n/a	n/a
21	CEBPB	chr4:10202340-10202672	K562	blood:	n/a	n/a
22	CHD2	chr4:10205617-10205911	K562	blood:	n/a	n/a
23	CTCF	chr4:10202324-10202720	K562	blood:	n/a	n/a
24	CTCF	chr4:10206160-10206310	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr4:10197776-10197817	LNCaP	prostate:	n/a	n/a
26	CUX1	chr4:10202470-10203041	K562	blood:	n/a	n/a
27	E2F4	chr4:10205018-10205083	MCF10A-Er-Src	breast:	n/a	n/a
28	EGR1	chr4:10205596-10205868	K562	blood:	n/a	n/a
29	EP300	chr4:10202212-10202871	K562	blood:	n/a	n/a
30	EP300	chr4:10206923-10207055	K562	blood:	n/a	n/a
31	EP300	chr4:10205474-10206001	K562	blood:	n/a	n/a
32	EP300	chr4:10199646-10199989	K562	blood:	n/a	n/a
33	EP300	chr4:10203409-10203800	K562	blood:	n/a	chr4:10203664-10203678
34	FOS	chr4:10206932-10207168	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
35	FOS	chr4:10206931-10207190	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
36	FOS	chr4:10206894-10207369	HUVEC	blood vessel:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
37	FOS	chr4:10206931-10207196	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
38	FOSL2	chr4:10206885-10207217	HepG2	liver:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
39	GATA1	chr4:10202393-10203909	K562	blood:	n/a	chr4:10203650-10203659 chr4:10203472-10203481
40	GATA1	chr4:10202279-10202892	PBDE	blood:	n/a	n/a
41	GATA2	chr4:10202410-10202857	K562	blood:	n/a	n/a
42	GATA2	chr4:10205525-10205800	K562	blood:	n/a	n/a
43	GATA2	chr4:10202481-10202793	K562	blood:	n/a	n/a
44	GATA2	chr4:10202454-10202840	K562	blood:	n/a	n/a
45	GATA2	chr4:10205537-10205877	K562	blood:	n/a	n/a
46	HCFC1	chr4:10202470-10202852	K562	blood:	n/a	n/a
47	HCFC1	chr4:10205555-10205869	K562	blood:	n/a	n/a
48	HCFC1	chr4:10204915-10205033	K562	blood:	n/a	n/a
49	HDAC2	chr4:10205503-10205802	K562	blood:	n/a	n/a
50	HEY1	chr4:10202378-10202693	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10116403..10118365-chr4:10196419..10198714,2	K562	blood:
2	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
3	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
4	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
5	chr4:10117656..10120785-chr4:10200069..10203011,5	K562	blood:
6	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
7	chr4:10118560..10120526-chr4:10203986..10206288,3	K562	blood:
8	chr4:10199615..10202739-chr4:10203951..10206560,3	K562	blood:
9	chr4:10207125..10208799-chr4:10284967..10286577,2	K562	blood:
10	chr4:10118162..10120785-chr4:10200742..10203933,4	K562	blood:
11	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-7	chr4:10201447-10202296	NONHSAT095488

Variant related genes	Relation type
ENSG00000248777	TF binding region
ENSG00000071127	chromatin interactions
ENSG00000223086	chromatin interactions
ENSG00000248777	chromatin interactions

Extended variants
information (count: 1089 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1089 , 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	rs372508594	chr4:10195636-10195637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561090678	chr4:10195666-10195667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560751854	chr4:10195673-10195674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531490425	chr4:10195681-10195682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544389536	chr4:10195697-10195698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115886466	chr4:10195710-10195711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116163585	chr4:10195720-10195721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57511677	chr4:10195740-10195741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146505589	chr4:10195748-10195749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147915899	chr4:10195758-10195759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141325701	chr4:10195763-10195764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56146718	chr4:10195770-10195771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11723388	chr4:10195802-10195803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2215690	chr4:10195805-10195806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6851056	chr4:10195817-10195818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs78733070	chr4:10195839-10195840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553747675	chr4:10195840-10195841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572045203	chr4:10195865-10195866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79316511	chr4:10195866-10195867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550260744	chr4:10195875-10195876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192356248	chr4:10195883-10195884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs974204	chr4:10195887-10195888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543602058	chr4:10195906-10195907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149117615	chr4:10195911-10195912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533449568	chr4:10195919-10195920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545137098	chr4:10195921-10195922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542164013	chr4:10195922-10195923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115261559	chr4:10195943-10195944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34075943	chr4:10195949-10195950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564707182	chr4:10195970-10195971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527632505	chr4:10195971-10195972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563967277	chr4:10195974-10195975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182956280	chr4:10195979-10195980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532162449	chr4:10195986-10195987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188487758	chr4:10196010-10196011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62286283	chr4:10196013-10196014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193078526	chr4:10196024-10196025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550325167	chr4:10196051-10196052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs929576	chr4:10196058-10196059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538750750	chr4:10196066-10196067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547471519	chr4:10196101-10196102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373298953	chr4:10196102-10196103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555887744	chr4:10196103-10196104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2192089	chr4:10196109-10196110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536244590	chr4:10196138-10196139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143008849	chr4:10196172-10196173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547836987	chr4:10196173-10196174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536885448	chr4:10196176-10196177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558731000	chr4:10196265-10196266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576932491	chr4:10196274-10196275	Weak transcription	n/a	n/a	Overlapped CNVs	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
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

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10192000-10201200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:10194200-10199200	Weak transcription	K562	blood
3	chr4:10199200-10199600	Enhancers	K562	blood
4	chr4:10199600-10200200	Flanking Active TSS	K562	blood
5	chr4:10200000-10200400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:10200200-10202400	Enhancers	K562	blood
7	chr4:10200400-10202400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:10201200-10202000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:10201800-10202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:10202000-10205000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:10202000-10205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:10202400-10202600	Flanking Active TSS	K562	blood
13	chr4:10202600-10202800	Enhancers	K562	blood
14	chr4:10202800-10203000	Flanking Active TSS	K562	blood
15	chr4:10202800-10204200	Enhancers	HSMMtube	muscle
16	chr4:10203000-10203200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr4:10203000-10203400	Enhancers	K562	blood
18	chr4:10203200-10203600	Enhancers	HSMM	muscle
19	chr4:10203400-10203600	Flanking Active TSS	K562	blood
20	chr4:10203400-10204200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:10203600-10203800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:10203600-10204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:10203600-10205400	Weak transcription	HSMM	muscle
24	chr4:10203600-10205400	Enhancers	K562	blood
25	chr4:10203800-10204000	Enhancers	HMEC	breast
26	chr4:10204000-10205400	Weak transcription	HMEC	breast
27	chr4:10204000-10205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:10204200-10204600	Weak transcription	HSMMtube	muscle
29	chr4:10204200-10205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:10204600-10207400	Enhancers	HSMMtube	muscle
31	chr4:10205000-10205600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:10205000-10207800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:10205400-10205800	Enhancers	HMEC	breast
34	chr4:10205400-10206200	Flanking Active TSS	K562	blood
35	chr4:10205400-10206600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:10205400-10206800	Enhancers	HSMM	muscle
37	chr4:10205400-10207200	Enhancers	NHDF-Ad	bronchial
38	chr4:10205600-10205800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:10205600-10205800	Enhancers	Left Ventricle	heart
40	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:10205600-10207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:10205600-10207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:10206000-10206800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:10206200-10208400	Enhancers	K562	blood
46	chr4:10206400-10206600	Enhancers	Left Ventricle	heart
47	chr4:10206400-10207000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:10206400-10207000	Enhancers	Osteobl	bone
49	chr4:10206400-10208000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:10207200-10214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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