Variant report

Variant	nsv966725
Chromosome Location	chr7:86735170-86740059
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	chr7:86735687-86736939	K562	blood:	n/a	n/a
2	ARID3A	chr7:86737302-86737337	K562	blood:	n/a	n/a
3	ARID3A	chr7:86740005-86740535	K562	blood:	n/a	n/a
4	ARID3A	chr7:86737613-86738710	K562	blood:	n/a	n/a
5	ATF1	chr7:86739719-86740489	K562	blood:	n/a	n/a
6	ATF1	chr7:86736557-86736891	K562	blood:	n/a	n/a
7	ATF3	chr7:86740059-86740448	K562	blood:	n/a	n/a
8	BACH1	chr7:86737972-86737973	K562	blood:	n/a	n/a
9	BHLHE40	chr7:86740034-86740631	K562	blood:	n/a	n/a
10	BHLHE40	chr7:86737353-86738057	K562	blood:	n/a	n/a
11	BHLHE40	chr7:86736379-86736848	K562	blood:	n/a	n/a
12	BHLHE40	chr7:86738291-86738459	K562	blood:	n/a	n/a
13	CBX3	chr7:86737272-86738232	K562	blood:	n/a	n/a
14	CBX3	chr7:86736285-86736916	K562	blood:	n/a	n/a
15	CCNT2	chr7:86736568-86736944	K562	blood:	n/a	n/a
16	CEBPB	chr7:86737495-86738061	K562	blood:	n/a	chr7:86737886-86737899
17	CEBPB	chr7:86736579-86736855	K562	blood:	n/a	n/a
18	CEBPB	chr7:86739881-86740523	K562	blood:	n/a	chr7:86740332-86740343
19	CEBPB	chr7:86739937-86740548	K562	blood:	n/a	chr7:86740332-86740343
20	CEBPB	chr7:86737824-86738025	K562	blood:	n/a	chr7:86737886-86737899
21	CEBPB	chr7:86735313-86735509	K562	blood:	n/a	n/a
22	CEBPD	chr7:86736194-86736891	K562	blood:	n/a	n/a
23	CEBPD	chr7:86739987-86740540	K562	blood:	n/a	n/a
24	CEBPD	chr7:86740012-86740539	K562	blood:	n/a	n/a
25	CTCF	chr7:86737627-86737721	K562	blood:	n/a	n/a
26	CUX1	chr7:86737830-86737873	K562	blood:	n/a	n/a
27	CUX1	chr7:86736526-86737180	K562	blood:	n/a	n/a
28	EGR1	chr7:86737718-86738115	K562	blood:	n/a	chr7:86737922-86737931 chr7:86737921-86737932 chr7:86737915-86737937 chr7:86737920-86737933 chr7:86737920-86737933 chr7:86737921-86737930 chr7:86737921-86737931 chr7:86737920-86737933 chr7:86737919-86737933 chr7:86737921-86737932 chr7:86737919-86737934 chr7:86737921-86737931
29	EGR1	chr7:86737323-86738135	K562	blood:	n/a	chr7:86737922-86737931 chr7:86737921-86737932 chr7:86737915-86737937 chr7:86737920-86737933 chr7:86737920-86737933 chr7:86737921-86737930 chr7:86737921-86737931 chr7:86737920-86737933 chr7:86737919-86737933 chr7:86737921-86737932 chr7:86737919-86737934 chr7:86737921-86737931
30	EGR1	chr7:86736522-86736868	K562	blood:	n/a	n/a
31	ELF1	chr7:86736583-86736846	K562	blood:	n/a	n/a
32	ELK1	chr7:86736573-86736774	K562	blood:	n/a	n/a
33	EP300	chr7:86736451-86736909	K562	blood:	n/a	n/a
34	EP300	chr7:86737503-86738624	K562	blood:	n/a	chr7:86738300-86738314
35	EP300	chr7:86735759-86735880	K562	blood:	n/a	n/a
36	EP300	chr7:86736085-86737135	K562	blood:	n/a	n/a
37	FOS	chr7:86740049-86740547	HUVEC	blood vessel:	n/a	chr7:86740294-86740303 chr7:86740293-86740303 chr7:86740293-86740303 chr7:86740293-86740303 chr7:86740292-86740303 chr7:86740293-86740303
38	FOSL1	chr7:86740040-86740481	K562	blood:	n/a	chr7:86740294-86740303 chr7:86740293-86740303 chr7:86740293-86740303 chr7:86740293-86740303 chr7:86740292-86740303 chr7:86740293-86740303
39	FOXA1	chr7:86740041-86740500	HepG2	liver:	n/a	n/a
40	FOXA1	chr7:86740058-86740403	HepG2	liver:	n/a	n/a
41	GATA1	chr7:86739489-86740728	K562	blood:	n/a	chr7:86740229-86740236 chr7:86740041-86740050 chr7:86740035-86740046
42	GATA1	chr7:86737379-86738320	PBDE	blood:	n/a	n/a
43	GATA1	chr7:86740046-86740554	PBDE	blood:	n/a	chr7:86740229-86740236
44	GATA2	chr7:86736423-86736914	K562	blood:	n/a	n/a
45	GATA2	chr7:86740021-86740543	K562	blood:	n/a	chr7:86740229-86740236 chr7:86740041-86740050 chr7:86740035-86740046
46	GATA2	chr7:86739800-86740505	HUVEC	blood vessel:	n/a	chr7:86740229-86740236 chr7:86740041-86740050 chr7:86740035-86740046
47	GATA3	chr7:86739974-86740665	MCF-7	breast:	n/a	chr7:86740229-86740236 chr7:86740041-86740050 chr7:86740035-86740046
48	GATA3	chr7:86739075-86739081	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr7:86740022-86740524	MCF-7	breast:	n/a	chr7:86740229-86740236 chr7:86740041-86740050 chr7:86740035-86740046
50	HCFC1	chr7:86737271-86737398	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:86730153..86732657-chr7:86734174..86736967,2	K562	blood:
2	chr7:86736144..86740329-chr7:86781903..86788552,7	K562	blood:
3	chr7:86735742..86738656-chr7:86781350..86784765,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMTF1-1	chr7:86738855-86740598	ENSG00000261462.1

Variant related genes	Relation type
ENSG00000261462	TF binding region
ENSG00000224046	chromatin interactions
ENSG00000135164	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs148522485	chr7:86735292-86735293	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533492904	chr7:86735315-86735316	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs2158156	chr7:86735343-86735344	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530962916	chr7:86735351-86735352	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556824022	chr7:86735387-86735388	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs143929120	chr7:86735435-86735436	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369060083	chr7:86735451-86735452	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs115366036	chr7:86735457-86735458	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs574986244	chr7:86735472-86735473	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs191396855	chr7:86735474-86735475	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs10255599	chr7:86735483-86735484	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76053299	chr7:86735492-86735493	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554302330	chr7:86735538-86735539	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs114258630	chr7:86735602-86735603	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572854588	chr7:86735618-86735619	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs539378289	chr7:86735623-86735624	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs185347844	chr7:86735660-86735661	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs11430558	chr7:86735686-86735687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs36074315	chr7:86735687-86735688	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs397750040	chr7:86735691-86735692	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs189659144	chr7:86735697-86735698	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183463880	chr7:86735726-86735727	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555114725	chr7:86735737-86735738	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573420907	chr7:86735813-86735814	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs17616052	chr7:86735831-86735832	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552619536	chr7:86735837-86735838	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs60108994	chr7:86735840-86735841	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs10252463	chr7:86735877-86735878	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144285965	chr7:86735878-86735879	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs564016103	chr7:86735883-86735884	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs148674436	chr7:86735884-86735885	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs543265457	chr7:86735895-86735896	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs544032477	chr7:86735903-86735904	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs377222798	chr7:86735975-86735976	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs571490683	chr7:86736002-86736003	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs142144066	chr7:86736096-86736097	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs528630129	chr7:86736097-86736098	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs547093262	chr7:86736131-86736132	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs562702597	chr7:86736181-86736182	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs374847313	chr7:86736200-86736201	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532548844	chr7:86736243-86736244	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs201559339	chr7:86736278-86736279	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs550655407	chr7:86736281-86736282	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs529981209	chr7:86736286-86736287	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs151222129	chr7:86736291-86736292	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs80171329	chr7:86736294-86736295	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs112105573	chr7:86736324-86736325	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs370246743	chr7:86736325-86736326	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs534629906	chr7:86736347-86736348	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs554142468	chr7:86736408-86736409	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86733600-86740800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:86735000-86736000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:86735200-86736800	Enhancers	NHDF-Ad	bronchial
4	chr7:86735400-86735800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:86735800-86736400	Enhancers	K562	blood
6	chr7:86735800-86737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:86736400-86736600	Enhancers	Primary T cells from cord blood	blood
8	chr7:86736400-86738200	Flanking Active TSS	K562	blood
9	chr7:86736600-86737200	Weak transcription	Primary T cells from cord blood	blood
10	chr7:86736800-86737200	Weak transcription	NHDF-Ad	bronchial
11	chr7:86737200-86737400	Enhancers	NHDF-Ad	bronchial
12	chr7:86737200-86738200	Enhancers	Primary T cells from cord blood	blood
13	chr7:86737400-86737600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:86737400-86740000	Weak transcription	NHDF-Ad	bronchial
15	chr7:86737800-86738400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:86738200-86738400	Enhancers	K562	blood
17	chr7:86738400-86739800	Weak transcription	K562	blood
18	chr7:86738400-86740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:86739600-86740800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:86739800-86742000	Enhancers	K562	blood
21	chr7:86740000-86740400	Enhancers	NHDF-Ad	bronchial

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