Variant report

Variant	nsv970836
Chromosome Location	chr7:55816398-55831636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:55820832-55821076	GM12878	blood:	n/a	chr7:55820958-55820969
2	CTCF	chr7:55827947-55827993	LNCaP	prostate:	n/a	n/a
3	CTCF	chr7:55825583-55825619	Lung_OC	lung:	n/a	n/a
4	CTCF	chr7:55816213-55816467	K562	blood:	n/a	n/a
5	CTCF	chr7:55816212-55816502	K562	blood:	n/a	n/a
6	FOS	chr7:55826225-55826254	MCF10A-Er-Src	breast:	n/a	n/a
7	FOSL2	chr7:55828311-55828652	HepG2	liver:	n/a	chr7:55828463-55828474
8	FOSL2	chr7:55828354-55828685	HepG2	liver:	n/a	chr7:55828463-55828474
9	GABPA	chr7:55821079-55821274	Hela-S3	cervix:	n/a	n/a
10	JUND	chr7:55828374-55828608	HepG2	liver:	n/a	n/a
11	REST	chr7:55820929-55821216	PANC-1	pancreas:	n/a	n/a
12	REST	chr7:55820603-55821393	U87	brain:	n/a	n/a
13	REST	chr7:55820950-55821341	Hela-S3	cervix:	n/a	n/a
14	REST	chr7:55820684-55820866	GM12878	blood:	n/a	n/a
15	REST	chr7:55820908-55821306	PANC-1	pancreas:	n/a	n/a
16	REST	chr7:55821041-55821354	ECC-1	luminal epithelium:	n/a	n/a
17	REST	chr7:55820927-55821354	HepG2	liver:	n/a	n/a
18	REST	chr7:55820645-55821520	SK-N-SH	brain:	n/a	n/a
19	REST	chr7:55820931-55821351	GM12878	blood:	n/a	n/a
20	REST	chr7:55821050-55821193	Hela-S3	cervix:	n/a	n/a
21	REST	chr7:55821045-55821271	HepG2	liver:	n/a	n/a
22	REST	chr7:55820968-55821399	PANC-1	pancreas:	n/a	n/a
23	REST	chr7:55821052-55821228	HL-60	blood:	n/a	n/a
24	REST	chr7:55821074-55821183	GM12878	blood:	n/a	n/a
25	REST	chr7:55820926-55821419	A549	lung:	n/a	n/a
26	REST	chr7:55820994-55821187	K562	blood:	n/a	n/a
27	REST	chr7:55820961-55821295	PFSK-1	brain:	n/a	n/a
28	REST	chr7:55821029-55821278	U87	brain:	n/a	n/a
29	REST	chr7:55820934-55821424	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr7:55820931-55821340	SK-N-SH	brain:	n/a	n/a
31	REST	chr7:55820697-55821347	PFSK-1	brain:	n/a	n/a
32	REST	chr7:55820606-55821423	H1-hESC	embryonic stem cell:	n/a	n/a
33	REST	chr7:55821064-55821357	ECC-1	luminal epithelium:	n/a	n/a
34	REST	chr7:55821005-55821284	HepG2	liver:	n/a	n/a
35	REST	chr7:55820683-55821367	PFSK-1	brain:	n/a	n/a
36	REST	chr7:55820941-55821321	U87	brain:	n/a	n/a
37	REST	chr7:55821007-55821296	SK-N-SH	brain:	n/a	n/a
38	REST	chr7:55821037-55821223	HL-60	blood:	n/a	n/a
39	REST	chr7:55820828-55821412	PFSK-1	brain:	n/a	n/a
40	REST	chr7:55820996-55821309	HepG2	liver:	n/a	n/a
41	REST	chr7:55820945-55821202	K562	blood:	n/a	n/a
42	REST	chr7:55821008-55821252	GM12878	blood:	n/a	n/a
43	REST	chr7:55820933-55821407	GM12878	blood:	n/a	n/a
44	REST	chr7:55821046-55821202	A549	lung:	n/a	n/a
45	STAT3	chr7:55826217-55826417	MCF10A-Er-Src	breast:	n/a	chr7:55826299-55826319 chr7:55826304-55826313 chr7:55826305-55826314 chr7:55826299-55826319 chr7:55826303-55826314 chr7:55826302-55826316
46	STAT3	chr7:55826226-55826357	MCF10A-Er-Src	breast:	n/a	chr7:55826299-55826319 chr7:55826304-55826313 chr7:55826305-55826314 chr7:55826299-55826319 chr7:55826303-55826314 chr7:55826302-55826316
47	ZBTB33	chr7:55819953-55820237	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:55817964-55818014	AG04449	skin:	fetal
2	chr7:55817964-55818014	AG09309	skin:	n/a
3	chr7:55817964-55818014	BE2_C	brain:	n/a
4	chr7:55817964-55818014	GM06990	blood:	n/a
5	chr7:55817964-55818014	U87	brain:	n/a
6	chr7:55817964-55818014	GM19239	blood:	n/a
7	chr7:55817964-55818014	Caco-2	colon:	n/a
8	chr7:55817964-55818014	A549	lung:	n/a
9	chr7:55817964-55818014	LNCaP	prostate:	n/a
10	chr7:55817964-55818014	AoSMC	blood vessel:	n/a
11	chr7:55817964-55818014	Hepatocyte	liver:	n/a
12	chr7:55817964-55818014	PANC-1	pancreas:	n/a
13	chr7:55817964-55818014	GM12891	blood:	n/a
14	chr7:55817964-55818014	HNPCEpiC	eye:	n/a
15	chr7:55817964-55818014	NB4	blood:	n/a
16	chr7:55817964-55818014	H1-hESC	embryonic stem cell:	embryo
17	chr7:55817964-55818014	HL-60	blood:	n/a
18	chr7:55817964-55818014	HepG2	liver:	n/a
19	chr7:55817964-55818014	RPTEC	kidney:	n/a
20	chr7:55817964-55818014	PFSK-1	brain:	n/a
21	chr7:55817964-55818014	HCM	heart:	n/a
22	chr7:55817964-55818014	HCF	heart:	n/a
23	chr7:55817964-55818014	Hela-S3	cervix:	n/a
24	chr7:55817964-55818014	AG09319	gingival:	n/a
25	chr7:55817964-55818014	HRCEpiC	kidney:	n/a
26	chr7:55817964-55818014	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:55817964-55818014	K562	blood:	n/a
28	chr7:55817964-55818014	BJ	skin:	n/a
29	chr7:55817964-55818014	AG10803	skin:	n/a
30	chr7:55817964-55818014	HIPEpiC	eye:	n/a
31	chr7:55817964-55818014	T-47D	breast:	n/a
32	chr7:55817964-55818014	ECC-1	luminal epithelium:	n/a
33	chr7:55817964-55818014	SK-N-SH	brain:	n/a
34	chr7:55817964-55818014	HEEpiC	esophagus:	n/a
35	chr7:55817964-55818014	HRPEpiC	eye:	n/a
36	chr7:55817964-55818014	PrEC	prostate:	n/a
37	chr7:55817964-55818014	SK-N-MC	brain:	n/a
38	chr7:55817964-55818014	HMEC	breast:	n/a
39	chr7:55817964-55818014	Jurkat	blood:	n/a
40	chr7:55817964-55818014	ProgFib	skin:	n/a
41	chr7:55817964-55818014	NT2-D1	testis:	n/a
42	chr7:55817964-55818014	AG04450	lung:	fetal
43	chr7:55817964-55818014	HCPEpiC	choroid plexus:	n/a
44	chr7:55817964-55818014	GM12892	blood:	n/a
45	chr7:55817964-55818014	NHDF-neo	bronchial:	n/a
46	chr7:55817964-55818014	HEK293	kidney:	embryo
47	chr7:55817964-55818014	MCF-7	breast:	n/a
48	chr7:55817964-55818014	NH-A	brain:	n/a
49	chr7:55817964-55818014	SKMC	muscle:	n/a
50	chr7:55817964-55818014	SK-N-SH_RA	brain:	n/a

No data

Variant related genes	Relation type
PSPHP1	TF binding region
PSPHP1	CpG island

Extended variants
information (count: 321 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568031695	chr7:55823415-55823416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35012614	chr7:55823421-55823422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535458569	chr7:55823455-55823456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184711683	chr7:55823469-55823470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572780943	chr7:55823487-55823488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539999741	chr7:55823515-55823516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558323136	chr7:55823540-55823541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7809922	chr7:55823581-55823582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs189525016	chr7:55823619-55823620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576932760	chr7:55823628-55823629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562077670	chr7:55823679-55823680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182166179	chr7:55823680-55823681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201021301	chr7:55823718-55823719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541028220	chr7:55823876-55823877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559973945	chr7:55823893-55823894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539475571	chr7:55824019-55824020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545737782	chr7:55824179-55824180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564283544	chr7:55824197-55824198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10899768	chr7:55824205-55824206	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs549813884	chr7:55824256-55824257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568085203	chr7:55824376-55824377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528847373	chr7:55824377-55824378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547426897	chr7:55824397-55824398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184251339	chr7:55824403-55824404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374345724	chr7:55824426-55824427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189456052	chr7:55824477-55824478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570217858	chr7:55824541-55824542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181771760	chr7:55824558-55824559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555781933	chr7:55824616-55824617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573803748	chr7:55824709-55824710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541165491	chr7:55824763-55824764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552945209	chr7:55824813-55824814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560953574	chr7:55824815-55824816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145573467	chr7:55824840-55824841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139275435	chr7:55824847-55824848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376324946	chr7:55824875-55824876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370362607	chr7:55824883-55824884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531506154	chr7:55824899-55824900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375369939	chr7:55824949-55824950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543255860	chr7:55824977-55824978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201013905	chr7:55824983-55824984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561727263	chr7:55824989-55824990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528989738	chr7:55824994-55824995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547563583	chr7:55825004-55825005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565659295	chr7:55825043-55825044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185158898	chr7:55825103-55825104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10247038	chr7:55825157-55825158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs561920869	chr7:55825192-55825193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190844703	chr7:55825249-55825250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575417724	chr7:55825282-55825283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Glioblastoma multiforme	19115005	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55823400-55842600	Weak transcription	Pancreas	Pancrea
2	chr7:55824400-55843400	Weak transcription	Left Ventricle	heart
3	chr7:55828200-55841800	Weak transcription	Spleen	Spleen
4	chr7:55828200-55844400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:55829400-55830800	Weak transcription	Fetal Stomach	stomach
6	chr7:55829400-55843200	Weak transcription	Right Ventricle	heart
7	chr7:55829600-55831200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:55829800-55841200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:55829800-55841800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:55830000-55841200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:55830000-55841800	Weak transcription	Liver	Liver
12	chr7:55830200-55841000	Weak transcription	Hela-S3	cervix
13	chr7:55830200-55842600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:55830400-55841000	Weak transcription	Aorta	Aorta
15	chr7:55830800-55832400	Strong transcription	Fetal Stomach	stomach
16	chr7:55831000-55831400	Weak transcription	Gastric	stomach
17	chr7:55831000-55842400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:55831200-55831400	Weak transcription	Fetal Intestine Small	intestine
19	chr7:55831200-55831600	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr7:55831200-55832200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:55831400-55831600	Genic enhancers	Gastric	stomach
22	chr7:55831600-55842600	Weak transcription	Fetal Intestine Small	intestine
23	chr7:55831600-55848000	Weak transcription	Gastric	stomach

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