Variant report

Variant	nsv981573
Chromosome Location	chr7:122320367-122322278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr7:122322037-122322306	HepG2	liver:	n/a	n/a
2	FOXA2	chr7:122322075-122322318	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:122319323-122320387	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF2	chr7:122322172-122322291	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:122321411-122321461	HL-60	blood:	n/a
2	chr7:122321539-122321589	HCT-116	colon:	n/a
3	chr7:122321539-122321589	HEK293	kidney:	embryo
4	chr7:122321539-122321589	NHDF-neo	bronchial:	n/a
5	chr7:122321411-122321461	ovcar-3	ovarian:	n/a
6	chr7:122321411-122321461	GM19239	blood:	n/a
7	chr7:122321539-122321589	GM12891	blood:	n/a
8	chr7:122321539-122321589	ECC-1	luminal epithelium:	n/a
9	chr7:122321539-122321589	HRCEpiC	kidney:	n/a
10	chr7:122321539-122321589	Jurkat	blood:	n/a
11	chr7:122321411-122321461	HCPEpiC	choroid plexus:	n/a
12	chr7:122321539-122321589	LNCaP	prostate:	n/a
13	chr7:122321411-122321461	HUVEC	blood vessel:	n/a
14	chr7:122321411-122321461	AG09319	gingival:	n/a
15	chr7:122321539-122321589	HAEpiC	amniotic membrane:	n/a
16	chr7:122321411-122321461	ProgFib	skin:	n/a
17	chr7:122321411-122321461	BE2_C	brain:	n/a
18	chr7:122321539-122321589	AG09319	gingival:	n/a
19	chr7:122321539-122321589	HMEC	breast:	n/a
20	chr7:122321411-122321461	H1-hESC	embryonic stem cell:	embryo
21	chr7:122321539-122321589	GM19239	blood:	n/a
22	chr7:122321411-122321461	T-47D	breast:	n/a
23	chr7:122321539-122321589	PrEC	prostate:	n/a
24	chr7:122321539-122321589	GM12892	blood:	n/a
25	chr7:122321411-122321461	HCM	heart:	n/a
26	chr7:122321411-122321461	GM12892	blood:	n/a
27	chr7:122321539-122321589	HUVEC	blood vessel:	n/a
28	chr7:122321411-122321461	HRPEpiC	eye:	n/a
29	chr7:122321411-122321461	IMR90	lung:	fetal
30	chr7:122321411-122321461	GM12891	blood:	n/a
31	chr7:122321539-122321589	HCF	heart:	n/a
32	chr7:122321411-122321461	HAEpiC	amniotic membrane:	n/a
33	chr7:122321411-122321461	Hela-S3	cervix:	n/a
34	chr7:122321539-122321589	H1-hESC	embryonic stem cell:	embryo
35	chr7:122321411-122321461	SK-N-MC	brain:	n/a
36	chr7:122321539-122321589	SKMC	muscle:	n/a
37	chr7:122321539-122321589	BJ	skin:	n/a
38	chr7:122321411-122321461	AG10803	skin:	n/a
39	chr7:122321411-122321461	BJ	skin:	n/a
40	chr7:122321539-122321589	SK-N-MC	brain:	n/a
41	chr7:122321539-122321589	HEEpiC	esophagus:	n/a
42	chr7:122321411-122321461	AG04450	lung:	fetal
43	chr7:122321411-122321461	HepG2	liver:	n/a
44	chr7:122321539-122321589	IMR90	lung:	fetal
45	chr7:122321411-122321461	SK-N-SH_RA	brain:	n/a
46	chr7:122321539-122321589	HRE	kidney:	n/a
47	chr7:122321411-122321461	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:122321411-122321461	LNCaP	prostate:	n/a
49	chr7:122321539-122321589	T-47D	breast:	n/a
50	chr7:122321539-122321589	U87	brain:	n/a

No data

Variant related genes	Relation type
RPS26P31	TF binding region
RPS26P31	CpG island

Extended variants
information (count: 72 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142399329	chr7:122320444-122320445	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs538270355	chr7:122320519-122320520	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs28459977	chr7:122320566-122320567	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572312205	chr7:122320575-122320576	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568260080	chr7:122320578-122320579	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs188879408	chr7:122320585-122320586	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs193236230	chr7:122320586-122320587	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577319825	chr7:122320641-122320642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539766537	chr7:122320699-122320700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184606638	chr7:122320716-122320717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541876472	chr7:122320749-122320750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534576158	chr7:122320816-122320817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557759946	chr7:122320833-122320834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572212798	chr7:122320849-122320850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541089943	chr7:122320852-122320853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564132546	chr7:122320857-122320858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533124338	chr7:122320861-122320862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549692150	chr7:122320862-122320863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7780855	chr7:122320863-122320864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529169272	chr7:122320883-122320884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548216942	chr7:122320896-122320897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568071549	chr7:122320979-122320980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377196172	chr7:122321006-122321007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547458056	chr7:122321077-122321078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202000609	chr7:122321099-122321100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370769353	chr7:122321100-122321101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71574715	chr7:122321193-122321194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375336639	chr7:122321194-122321195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71531912	chr7:122321200-122321201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540059834	chr7:122321223-122321224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140173609	chr7:122321302-122321303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111971280	chr7:122321306-122321307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536147964	chr7:122321318-122321319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188179007	chr7:122321347-122321348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180711462	chr7:122321353-122321354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146412398	chr7:122321357-122321358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557866192	chr7:122321358-122321359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543578813	chr7:122321389-122321390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184133916	chr7:122321397-122321398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574331914	chr7:122321411-122321412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140810730	chr7:122321413-122321414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529159679	chr7:122321453-122321454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542465441	chr7:122321454-122321455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561767921	chr7:122321458-122321459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144834693	chr7:122321486-122321487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547371016	chr7:122321505-122321506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570952643	chr7:122321510-122321511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28642148	chr7:122321511-122321512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550392301	chr7:122321587-122321588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138756016	chr7:122321598-122321599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122314800-122322800	Weak transcription	Right Atrium	heart
2	chr7:122315400-122322200	Weak transcription	Fetal Lung	lung
3	chr7:122316800-122320400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:122316800-122320400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:122316800-122322800	Weak transcription	Left Ventricle	heart
6	chr7:122317600-122326600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:122317600-122327000	Weak transcription	Fetal Stomach	stomach
8	chr7:122318800-122322200	Weak transcription	Gastric	stomach
9	chr7:122318800-122322800	Weak transcription	Pancreas	Pancrea
10	chr7:122318800-122323200	Weak transcription	Lung	lung
11	chr7:122318800-122325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:122319000-122322800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:122319000-122324800	Weak transcription	Stomach Mucosa	stomach
14	chr7:122319200-122320400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:122319200-122323200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:122319600-122320400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:122319600-122320400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:122319800-122320600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr7:122320000-122320400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:122320000-122320400	Flanking Active TSS	HepG2	liver
21	chr7:122320000-122320600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:122320200-122320400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:122320200-122323200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:122320400-122320800	Enhancers	HepG2	liver
25	chr7:122320400-122325200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:122320400-122325200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:122320400-122325200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:122320400-122325200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:122320400-122325200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:122320400-122326400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:122320800-122321200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:122320800-122322000	Weak transcription	HepG2	liver
33	chr7:122320800-122329400	Weak transcription	Fetal Intestine Small	intestine
34	chr7:122322000-122322600	Enhancers	HepG2	liver
35	chr7:122322200-122322400	Enhancers	Gastric	stomach
36	chr7:122322200-122324200	Enhancers	Fetal Lung	lung

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