Variant report

Variant	nsv966833
Chromosome Location	chr7:65917499-65932080
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	chr7:65925355-65925383	K562	blood:	n/a	n/a
2	ARID3A	chr7:65925846-65926274	K562	blood:	n/a	n/a
3	ARID3A	chr7:65924754-65925042	K562	blood:	n/a	n/a
4	ATF1	chr7:65924122-65924164	K562	blood:	n/a	n/a
5	BATF	chr7:65931161-65931434	GM12878	blood:	n/a	n/a
6	BHLHE40	chr7:65924116-65924275	K562	blood:	n/a	n/a
7	BHLHE40	chr7:65925317-65925485	K562	blood:	n/a	n/a
8	BHLHE40	chr7:65924673-65925023	K562	blood:	n/a	n/a
9	CBX3	chr7:65925976-65927020	K562	blood:	n/a	n/a
10	CBX3	chr7:65926079-65926724	K562	blood:	n/a	n/a
11	CCNT2	chr7:65925862-65926076	K562	blood:	n/a	n/a
12	CEBPB	chr7:65931082-65931474	HepG2	liver:	n/a	n/a
13	CEBPB	chr7:65930093-65930163	A549	lung:	n/a	n/a
14	CEBPB	chr7:65926045-65926245	K562	blood:	n/a	n/a
15	CEBPB	chr7:65931116-65931295	HepG2	liver:	n/a	n/a
16	CEBPB	chr7:65931272-65931427	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr7:65931120-65931354	IMR90	lung:	n/a	n/a
18	CEBPD	chr7:65924739-65925552	K562	blood:	n/a	n/a
19	CEBPD	chr7:65925856-65926135	K562	blood:	n/a	n/a
20	CEBPD	chr7:65925912-65926221	K562	blood:	n/a	n/a
21	CTCF	chr7:65930817-65930834	LNCaP	prostate:	n/a	n/a
22	CTCF	chr7:65925180-65925330	HRPEpiC	eye:	n/a	n/a
23	EGR1	chr7:65924692-65925029	K562	blood:	n/a	n/a
24	EGR1	chr7:65924711-65925013	K562	blood:	n/a	n/a
25	ELF1	chr7:65927421-65927651	K562	blood:	n/a	n/a
26	EP300	chr7:65925766-65926304	K562	blood:	n/a	n/a
27	EP300	chr7:65923967-65924283	K562	blood:	n/a	n/a
28	EP300	chr7:65924507-65925409	K562	blood:	n/a	chr7:65924907-65924916
29	FOSL1	chr7:65924660-65925011	K562	blood:	n/a	chr7:65924908-65924916 chr7:65924908-65924916 chr7:65924906-65924917 chr7:65924906-65924918 chr7:65924909-65924916
30	FOSL1	chr7:65924769-65924970	K562	blood:	n/a	chr7:65924908-65924916 chr7:65924908-65924916 chr7:65924906-65924917 chr7:65924906-65924918 chr7:65924909-65924916
31	FOXA1	chr7:65917208-65917499	T-47D	breast:	n/a	n/a
32	FOXA1	chr7:65917194-65917598	HepG2	liver:	n/a	n/a
33	FOXP2	chr7:65924095-65924244	PFSK-1	brain:	n/a	n/a
34	FOXP2	chr7:65931658-65931892	PFSK-1	brain:	n/a	n/a
35	GATA1	chr7:65924719-65926284	PBDE	blood:	n/a	chr7:65924909-65924918
36	GATA1	chr7:65924251-65926408	K562	blood:	n/a	chr7:65924585-65924594 chr7:65924909-65924918
37	GATA2	chr7:65924695-65925488	K562	blood:	n/a	chr7:65924909-65924918
38	GATA2	chr7:65925645-65926407	K562	blood:	n/a	n/a
39	HDAC2	chr7:65925149-65925367	K562	blood:	n/a	n/a
40	HDAC2	chr7:65924725-65924954	K562	blood:	n/a	chr7:65924938-65924952 chr7:65924937-65924951 chr7:65924940-65924954
41	HMGN3	chr7:65925874-65926074	K562	blood:	n/a	n/a
42	IRF1	chr7:65926731-65926775	K562	blood:	n/a	n/a
43	IRF1	chr7:65924947-65924948	K562	blood:	n/a	n/a
44	IRF1	chr7:65925878-65926391	K562	blood:	n/a	n/a
45	IRF1	chr7:65924418-65924441	K562	blood:	n/a	n/a
46	IRF1	chr7:65925851-65926388	K562	blood:	n/a	n/a
47	JUN	chr7:65924129-65924139	K562	blood:	n/a	n/a
48	JUN	chr7:65924744-65925084	K562	blood:	n/a	chr7:65924908-65924916 chr7:65924908-65924916 chr7:65924906-65924918 chr7:65924909-65924916
49	JUN	chr7:65925881-65926132	K562	blood:	n/a	n/a
50	JUND	chr7:65923963-65925457	K562	blood:	n/a	chr7:65924908-65924916 chr7:65924908-65924916 chr7:65924906-65924918 chr7:65924909-65924916

No.	Distal block	Cell Line	Cell type
1	chr7:65929041..65931095-chr7:65933234..65935922,2	K562	blood:
2	chr7:65579328..65582100-chr7:65915520..65918046,2	K562	blood:
3	chr7:65930280..65931785-chr7:66046752..66048531,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TPST1-4	chr7:65921737-65922530	NONHSAT121183

Variant related genes	Relation type
ENSG00000230189	TF binding region
ENSG00000241258	chromatin interactions

Extended variants
information (count: 569 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561376569	chr7:65917526-65917527	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138755209	chr7:65917540-65917541	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113727624	chr7:65917569-65917570	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149772574	chr7:65917581-65917582	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35337218	chr7:65917582-65917583	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540437021	chr7:65917597-65917598	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561733492	chr7:65917616-65917617	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570729071	chr7:65917684-65917685	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368435293	chr7:65917698-65917699	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532447695	chr7:65917721-65917722	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552198065	chr7:65917756-65917757	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140255135	chr7:65917799-65917800	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531556041	chr7:65917859-65917860	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550852510	chr7:65917892-65917893	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567415560	chr7:65918025-65918026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs193178417	chr7:65918041-65918042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546458827	chr7:65918060-65918061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145217947	chr7:65918068-65918069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185087074	chr7:65918082-65918083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188816659	chr7:65918216-65918217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575315617	chr7:65918246-65918247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537416491	chr7:65918279-65918280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181242967	chr7:65918287-65918288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369034414	chr7:65918380-65918381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183964037	chr7:65918391-65918392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540849534	chr7:65918392-65918393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188294700	chr7:65918406-65918407	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576961869	chr7:65918434-65918435	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373357081	chr7:65918508-65918509	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs137869041	chr7:65918518-65918519	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562594941	chr7:65918529-65918530	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs141691530	chr7:65918562-65918563	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs114824652	chr7:65918571-65918572	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561267819	chr7:65918587-65918588	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs12698520	chr7:65918707-65918708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs546814009	chr7:65918763-65918764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533617840	chr7:65918859-65918860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150525817	chr7:65918893-65918894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13308549	chr7:65918912-65918913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13312639	chr7:65918930-65918931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568938007	chr7:65918970-65918971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13235229	chr7:65918977-65918978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542010636	chr7:65918991-65918992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13307350	chr7:65919013-65919014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13308595	chr7:65919028-65919029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61593141	chr7:65919031-65919032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575124159	chr7:65919041-65919042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534214211	chr7:65919060-65919061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566827977	chr7:65919071-65919072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554001902	chr7:65919170-65919171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65879000-65922200	Weak transcription	Small Intestine	intestine
2	chr7:65879200-65924600	Weak transcription	Brain Anterior Caudate	brain
3	chr7:65879200-65939800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:65879200-65946000	Weak transcription	NHEK	skin
5	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
6	chr7:65879400-65921000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:65879400-65921400	Weak transcription	Fetal Kidney	kidney
8	chr7:65879600-65919000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:65879600-65920400	Weak transcription	Primary B cells from cord blood	blood
10	chr7:65884000-65919600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:65886600-65920400	Weak transcription	Right Ventricle	heart
12	chr7:65887000-65924600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:65887000-65924600	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:65889200-65939600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:65890000-65928800	Weak transcription	Adipose Nuclei	Adipose
16	chr7:65891600-65939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:65892000-65931800	Weak transcription	Ovary	ovary
18	chr7:65894200-65939200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:65898200-65938200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:65903000-65922000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:65904400-65939000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:65905600-65938600	Weak transcription	Pancreas	Pancrea
23	chr7:65905600-65957600	Weak transcription	Fetal Lung	lung
24	chr7:65906000-65940200	Weak transcription	Fetal Intestine Large	intestine
25	chr7:65906200-65938600	Weak transcription	Lung	lung
26	chr7:65908000-65923600	Weak transcription	K562	blood
27	chr7:65909600-65919200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:65909600-65919400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:65909600-65927400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:65909800-65918400	Weak transcription	Spleen	Spleen
31	chr7:65910000-65938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:65910200-65940000	Weak transcription	Placenta	Placenta
33	chr7:65911400-65957800	Weak transcription	Aorta	Aorta
34	chr7:65911800-65938600	Weak transcription	Fetal Intestine Small	intestine
35	chr7:65912000-65944000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:65912600-65939000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:65913000-65946800	Weak transcription	Esophagus	oesophagus
38	chr7:65913400-65924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:65914000-65939200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr7:65914200-65939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:65914400-65918400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:65914400-65938200	Weak transcription	Primary T cells from cord blood	blood
43	chr7:65914600-65919200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:65914600-65920000	Weak transcription	GM12878-XiMat	blood
45	chr7:65914600-65923000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:65914600-65924600	Weak transcription	Left Ventricle	heart
47	chr7:65914600-65927400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:65914600-65938600	Weak transcription	Fetal Stomach	stomach
49	chr7:65914600-65938800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:65915200-65939000	Weak transcription	Fetal Muscle Trunk	muscle

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