Variant report

Variant	nsv888693
Chromosome Location	chr7:87315922-87330423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:62)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:87317140-87317290	GM12872	blood:	n/a	n/a
2	CTCF	chr7:87317120-87317270	GM12866	blood:	n/a	n/a
3	CTCF	chr7:87317040-87317190	HMF	breast:	n/a	n/a
4	CTCF	chr7:87317060-87317210	BE2_C	brain:	n/a	n/a
5	CTCF	chr7:87316184-87316199	MCF-7	breast:	n/a	n/a
6	CTCF	chr7:87327081-87327127	GM20000	blood:	n/a	n/a
7	CTCF	chr7:87317160-87317310	HEK293	kidney:	n/a	n/a
8	CTCF	chr7:87317040-87317190	Caco-2	colon:	n/a	n/a
9	CTCF	chr7:87323460-87323610	HMEC	breast:	n/a	n/a
10	CTCF	chr7:87316980-87317130	MCF-7	breast:	n/a	n/a
11	CTCF	chr7:87317117-87317212	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr7:87316960-87317250	HCT-116	colon:	n/a	n/a
13	FOXA1	chr7:87317017-87317425	HepG2	liver:	n/a	n/a
14	FOXA1	chr7:87317024-87317288	HepG2	liver:	n/a	n/a
15	FOXA1	chr7:87317026-87317311	HepG2	liver:	n/a	n/a
16	FOXA1	chr7:87317031-87317364	HepG2	liver:	n/a	n/a
17	FOXA2	chr7:87317020-87317255	HepG2	liver:	n/a	n/a
18	GATA3	chr7:87323700-87323719	SH-SY5Y	brain:	n/a	n/a
19	MAFK	chr7:87330152-87330155	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAFK	chr7:87324811-87325141	HepG2	liver:	n/a	n/a
21	MAFK	chr7:87324846-87325082	IMR90	lung:	n/a	n/a
22	MYC	chr7:87323413-87323496	MCF10A-Er-Src	breast:	n/a	n/a
23	NFYB	chr7:87325343-87325555	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:87316118-87316213	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:87317809-87317877	MCF10A-Er-Src	breast:	n/a	n/a
26	RAD21	chr7:87317138-87317169	HepG2	liver:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:87329407-87329457	CMK	blood:	n/a
2	chr7:87329407-87329457	CMK	blood:	n/a
3	chr7:87329407-87329457	HCF	heart:	n/a
4	chr7:87329407-87329457	SKMC	muscle:	n/a
5	chr7:87329407-87329457	HUVEC	blood vessel:	n/a
6	chr7:87329407-87329457	BJ	skin:	n/a
7	chr7:87329407-87329457	PFSK-1	brain:	n/a
8	chr7:87329407-87329457	AG09309	skin:	n/a
9	chr7:87329407-87329457	HNPCEpiC	eye:	n/a
10	chr7:87329407-87329457	NH-A	brain:	n/a
11	chr7:87329407-87329457	GM12878	blood:	n/a
12	chr7:87329407-87329457	NT2-D1	testis:	n/a
13	chr7:87329407-87329457	NB4	blood:	n/a
14	chr7:87329407-87329457	HCPEpiC	choroid plexus:	n/a
15	chr7:87329407-87329457	AG09319	gingival:	n/a
16	chr7:87329407-87329457	H1-hESC	embryonic stem cell:	embryo
17	chr7:87329407-87329457	SK-N-SH_RA	brain:	n/a
18	chr7:87329407-87329457	HEEpiC	esophagus:	n/a
19	chr7:87329407-87329457	SK-N-MC	brain:	n/a
20	chr7:87329407-87329457	K562	blood:	n/a
21	chr7:87329407-87329457	HRPEpiC	eye:	n/a
22	chr7:87329407-87329457	IMR90	lung:	fetal
23	chr7:87329407-87329457	HepG2	liver:	n/a
24	chr7:87329407-87329457	Hepatocyte	liver:	n/a
25	chr7:87329407-87329457	GM12891	blood:	n/a
26	chr7:87329407-87329457	U87	brain:	n/a
27	chr7:87329407-87329457	HRCEpiC	kidney:	n/a
28	chr7:87329407-87329457	HEK293	kidney:	embryo
29	chr7:87329407-87329457	SAEC	small airway:	n/a
30	chr7:87329407-87329457	GM12892	blood:	n/a
31	chr7:87329407-87329457	MCF-7	breast:	n/a
32	chr7:87329407-87329457	NHDF-neo	bronchial:	n/a
33	chr7:87329407-87329457	HAEpiC	amniotic membrane:	n/a
34	chr7:87329407-87329457	ovcar-3	ovarian:	n/a
35	chr7:87329407-87329457	HL-60	blood:	n/a
36	chr7:87329407-87329457	MCF10A-Er-Src	breast:	n/a
37	chr7:87329407-87329457	SK-N-SH	brain:	n/a
38	chr7:87329407-87329457	HPAEpiC	pulmonary alveolar:	n/a
39	chr7:87329407-87329457	ProgFib	skin:	n/a
40	chr7:87329407-87329457	AoSMC	blood vessel:	n/a
41	chr7:87329407-87329457	T-47D	breast:	n/a
42	chr7:87329407-87329457	HIPEpiC	eye:	n/a
43	chr7:87329407-87329457	ECC-1	luminal epithelium:	n/a
44	chr7:87329407-87329457	RPTEC	kidney:	n/a
45	chr7:87329407-87329457	Hela-S3	cervix:	n/a
46	chr7:87329407-87329457	AG04449	skin:	fetal
47	chr7:87329407-87329457	LNCaP	prostate:	n/a
48	chr7:87329407-87329457	Caco-2	colon:	n/a
49	chr7:87329407-87329457	AG04450	lung:	fetal
50	chr7:87329407-87329457	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87309179..87311671-chr7:87321018..87322645,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RUNDC3B-2	chr7:87329737-87329866	NONHSAT121842

No data

Variant related genes	Relation type
RUNDC3B	TF binding region
RUNDC3B	CpG island

Extended variants
information (count: 54 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557242364	chr7:87317022-87317023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188430635	chr7:87317060-87317061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549115771	chr7:87317068-87317069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142596955	chr7:87317094-87317095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147646766	chr7:87317095-87317096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28381741	chr7:87317154-87317155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368194104	chr7:87317165-87317166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571868960	chr7:87317190-87317191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539285703	chr7:87317208-87317209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575501187	chr7:87317209-87317210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575132248	chr7:87317242-87317243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536244162	chr7:87317265-87317266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554739454	chr7:87317274-87317275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572952193	chr7:87317296-87317297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78154767	chr7:87317312-87317313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540452077	chr7:87317335-87317336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28381740	chr7:87317396-87317397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543426799	chr7:87317468-87317469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146119078	chr7:87317470-87317471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544445964	chr7:87317516-87317517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138690914	chr7:87317536-87317537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561557119	chr7:87317539-87317540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535249256	chr7:87317549-87317550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548952553	chr7:87317596-87317597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139187369	chr7:87324829-87324830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549177029	chr7:87324871-87324872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs367555264	chr7:87324907-87324908	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs567801686	chr7:87324912-87324913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs550990141	chr7:87324934-87324935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528675827	chr7:87324956-87324957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs547312099	chr7:87325139-87325140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs373921913	chr7:87325421-87325422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs374291432	chr7:87325453-87325454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs556971410	chr7:87325472-87325473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568991642	chr7:87325502-87325503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs530915365	chr7:87325919-87325920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28381735	chr7:87325946-87325947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542760178	chr7:87326003-87326004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536763685	chr7:87326097-87326098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528486020	chr7:87326106-87326107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12670317	chr7:87326125-87326126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs28381734	chr7:87326132-87326133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546859455	chr7:87326167-87326168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372179306	chr7:87326176-87326177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546555962	chr7:87326189-87326190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536849516	chr7:87327087-87327088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs141368882	chr7:87327088-87327089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs552352868	chr7:87327103-87327104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs267601613	chr7:87329760-87329761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs139503670	chr7:87329764-87329765	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Prostate cancer	22341455	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myxofibrosarcoma	20639860	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87317000-87317600	Enhancers	HepG2	liver
2	chr7:87325800-87326200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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