Variant report

Variant	nsv365688
Chromosome Location	chr7:128052490-128056108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:128054138-128054312	HepG2	liver:	n/a	chr7:128054237-128054248
2	EP300	chr7:128055301-128055655	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr7:128055339-128055636	SK-N-SH_RA	brain:	n/a	n/a
4	FOS	chr7:128055541-128055771	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr7:128055543-128055677	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA2	chr7:128055156-128055727	SH-SY5Y	brain:	n/a	chr7:128055469-128055476 chr7:128055469-128055478 chr7:128055468-128055478
7	GATA3	chr7:128055346-128055645	SH-SY5Y	brain:	n/a	chr7:128055469-128055476 chr7:128055469-128055478 chr7:128055468-128055478
8	POLR2A	chr7:128055364-128055577	SK-N-SH	brain:	n/a	n/a
9	RCOR1	chr7:128053744-128053823	K562	blood:	n/a	n/a
10	SETDB1	chr7:128053363-128053816	U2OS	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:128053303-128053353	T-47D	breast:	n/a
2	chr7:128053303-128053353	ECC-1	luminal epithelium:	n/a
3	chr7:128053303-128053353	SK-N-SH_RA	brain:	n/a
4	chr7:128053303-128053353	HAEpiC	amniotic membrane:	n/a
5	chr7:128053303-128053353	IMR90	lung:	fetal
6	chr7:128053303-128053353	SAEC	small airway:	n/a
7	chr7:128053303-128053353	NHBE	bronchial:	n/a
8	chr7:128053303-128053353	GM12891	blood:	n/a
9	chr7:128053303-128053353	BJ	skin:	n/a
10	chr7:128053303-128053353	HRPEpiC	eye:	n/a
11	chr7:128053303-128053353	MCF10A-Er-Src	breast:	n/a
12	chr7:128053303-128053353	NB4	blood:	n/a
13	chr7:128053303-128053353	AoSMC	blood vessel:	n/a
14	chr7:128053303-128053353	ovcar-3	ovarian:	n/a
15	chr7:128053303-128053353	GM19239	blood:	n/a
16	chr7:128053303-128053353	RPTEC	kidney:	n/a
17	chr7:128053303-128053353	Hela-S3	cervix:	n/a
18	chr7:128053303-128053353	K562	blood:	n/a
19	chr7:128053303-128053353	CMK	blood:	n/a
20	chr7:128053303-128053353	PANC-1	pancreas:	n/a
21	chr7:128053303-128053353	AG10803	skin:	n/a
22	chr7:128053303-128053353	LNCaP	prostate:	n/a
23	chr7:128053303-128053353	AG09309	skin:	n/a
24	chr7:128053303-128053353	HUVEC	blood vessel:	n/a
25	chr7:128053303-128053353	Caco-2	colon:	n/a
26	chr7:128053303-128053353	NH-A	brain:	n/a
27	chr7:128053303-128053353	HCPEpiC	choroid plexus:	n/a
28	chr7:128053303-128053353	Hepatocyte	liver:	n/a
29	chr7:128053303-128053353	HCT-116	colon:	n/a
30	chr7:128053303-128053353	HCM	heart:	n/a
31	chr7:128053303-128053353	HEEpiC	esophagus:	n/a
32	chr7:128053303-128053353	AG04449	skin:	fetal
33	chr7:128053303-128053353	HRE	kidney:	n/a
34	chr7:128053303-128053353	HL-60	blood:	n/a
35	chr7:128053303-128053353	BE2_C	brain:	n/a
36	chr7:128053303-128053353	H1-hESC	embryonic stem cell:	embryo
37	chr7:128053303-128053353	NT2-D1	testis:	n/a
38	chr7:128053303-128053353	SK-N-SH	brain:	n/a
39	chr7:128053303-128053353	HPAEpiC	pulmonary alveolar:	n/a
40	chr7:128053303-128053353	AG09319	gingival:	n/a
41	chr7:128053303-128053353	NHDF-neo	bronchial:	n/a
42	chr7:128053303-128053353	HepG2	liver:	n/a
43	chr7:128053303-128053353	HRCEpiC	kidney:	n/a
44	chr7:128053303-128053353	HCF	heart:	n/a
45	chr7:128053303-128053353	GM12878	blood:	n/a
46	chr7:128053303-128053353	PFSK-1	brain:	n/a
47	chr7:128053303-128053353	HNPCEpiC	eye:	n/a
48	chr7:128053303-128053353	HMEC	breast:	n/a
49	chr7:128053303-128053353	GM12892	blood:	n/a
50	chr7:128053303-128053353	Jurkat	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128050564..128052309-chr7:128052445..128055482,3	K562	blood:
2	chr7:128053660..128055460-chr7:128057168..128058890,2	K562	blood:
3	chr7:128047966..128052501-chr7:128055302..128058548,8	K562	blood:
4	chr7:128046441..128049615-chr7:128055394..128059121,4	MCF-7	breast:
5	chr7:128055642..128057274-chr7:128062858..128065377,2	MCF-7	breast:
6	chr7:128055955..128059453-chr7:128060667..128062980,3	K562	blood:
7	chr7:128044666..128048176-chr7:128052474..128055557,4	MCF-7	breast:
8	chr7:128048742..128050637-chr7:128053942..128056438,2	MCF-7	breast:

No data

Variant related genes	Relation type
IMPDH1	TF binding region
IMPDH1	CpG island
ENSG00000106348	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77309996	chr7:128052596-128052597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551502078	chr7:128052644-128052645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527570240	chr7:128052696-128052697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542587601	chr7:128052698-128052699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184459106	chr7:128052705-128052706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34726078	chr7:128052720-128052721	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549962958	chr7:128052736-128052737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564597553	chr7:128052737-128052738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11770512	chr7:128052741-128052742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530448387	chr7:128052745-128052746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550417004	chr7:128052747-128052748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532081140	chr7:128052751-128052752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546986656	chr7:128052770-128052771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111885572	chr7:128052791-128052792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565378316	chr7:128052815-128052816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536937701	chr7:128052826-128052827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143190167	chr7:128052862-128052863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570350791	chr7:128052871-128052872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537215344	chr7:128052942-128052943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188991325	chr7:128052959-128052960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559206859	chr7:128052989-128052990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs59016650	chr7:128053020-128053021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577367602	chr7:128053065-128053066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535161264	chr7:128053150-128053151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374452681	chr7:128053161-128053162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557555934	chr7:128053175-128053176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538518166	chr7:128053219-128053220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147516661	chr7:128053225-128053226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192532464	chr7:128053243-128053244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368792117	chr7:128053249-128053250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560990359	chr7:128053289-128053290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11771484	chr7:128053345-128053346	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs11764599	chr7:128053385-128053386	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572919981	chr7:128053476-128053477	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs532068946	chr7:128053477-128053478	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs184569380	chr7:128053603-128053604	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374469654	chr7:128053625-128053626	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs62481107	chr7:128053636-128053637	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11771514	chr7:128053639-128053640	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529630245	chr7:128053647-128053648	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148574641	chr7:128053671-128053672	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs570215941	chr7:128053687-128053688	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537754112	chr7:128053707-128053708	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs552792885	chr7:128053728-128053729	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs571088757	chr7:128053767-128053768	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535097750	chr7:128053937-128053938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553473455	chr7:128054031-128054032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571644939	chr7:128054043-128054044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574891173	chr7:128054051-128054052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535441036	chr7:128054070-128054071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	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
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128050800-128062200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:128051000-128053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:128051200-128055400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:128051400-128053800	Weak transcription	K562	blood
5	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
6	chr7:128053400-128053800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:128053800-128054200	Enhancers	K562	blood
8	chr7:128053800-128055200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:128055200-128055400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:128055400-128055600	Enhancers	Brain Anterior Caudate	brain
11	chr7:128055400-128055800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:128055400-128056000	Enhancers	Brain Hippocampus Middle	brain
13	chr7:128055400-128056000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr7:128055800-128063800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:128056000-128062800	Weak transcription	Brain Hippocampus Middle	brain

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