Variant report

Variant	nsv970619
Chromosome Location	chr7:153655790-153731030
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	BCL3	chr7:153686171-153686487	GM12878	blood:	n/a	n/a
2	BCL3	chr7:153686222-153686486	GM12878	blood:	n/a	n/a
3	BHLHE40	chr7:153671731-153672005	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:153708400-153708682	K562	blood:	n/a	chr7:153708509-153708518 chr7:153708509-153708518 chr7:153708509-153708518 chr7:153708507-153708518 chr7:153708509-153708518
5	CEBPB	chr7:153708406-153708655	A549	lung:	n/a	chr7:153708509-153708518 chr7:153708509-153708518 chr7:153708509-153708518 chr7:153708507-153708518 chr7:153708509-153708518
6	CEBPB	chr7:153661713-153661899	HepG2	liver:	n/a	n/a
7	CEBPB	chr7:153703491-153703685	HepG2	liver:	n/a	chr7:153703626-153703637 chr7:153703628-153703637
8	CEBPB	chr7:153708328-153708611	HepG2	liver:	n/a	chr7:153708509-153708518 chr7:153708509-153708518 chr7:153708509-153708518 chr7:153708507-153708518 chr7:153708509-153708518
9	CEBPB	chr7:153671722-153671982	HepG2	liver:	n/a	n/a
10	CTCF	chr7:153687068-153687129	GM19240	blood:	n/a	chr7:153687095-153687108 chr7:153687093-153687111
11	CTCF	chr7:153686920-153687070	K562	blood:	n/a	n/a
12	CTCF	chr7:153687687-153687787	Fibrobl	skin:	n/a	n/a
13	CTCF	chr7:153712751-153712835	HepG2	liver:	n/a	n/a
14	CTCF	chr7:153727930-153727991	Medullo	brain:	n/a	n/a
15	CTCF	chr7:153713944-153713981	Medullo	brain:	n/a	n/a
16	CTCF	chr7:153686988-153687201	Hela-S3	cervix:	n/a	chr7:153687148-153687161 chr7:153687149-153687159 chr7:153687141-153687162 chr7:153687095-153687108 chr7:153687146-153687164 chr7:153687152-153687161 chr7:153687093-153687111
17	CTCF	chr7:153712698-153713112	K562	blood:	n/a	n/a
18	CTCF	chr7:153687023-153687199	LNCaP	prostate:	n/a	chr7:153687148-153687161 chr7:153687149-153687159 chr7:153687141-153687162 chr7:153687095-153687108 chr7:153687146-153687164 chr7:153687152-153687161 chr7:153687093-153687111
19	CTCF	chr7:153712960-153713110	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr7:153694274-153694339	Fibrobl	skin:	n/a	n/a
21	CTCF	chr7:153686986-153687207	H1-hESC	embryonic stem cell:	n/a	chr7:153687148-153687161 chr7:153687149-153687159 chr7:153687141-153687162 chr7:153687095-153687108 chr7:153687146-153687164 chr7:153687152-153687161 chr7:153687093-153687111
22	CTCF	chr7:153687030-153687193	MCF-7	breast:	n/a	chr7:153687148-153687161 chr7:153687149-153687159 chr7:153687141-153687162 chr7:153687095-153687108 chr7:153687146-153687164 chr7:153687152-153687161 chr7:153687093-153687111
23	CTCF	chr7:153687074-153687156	GM19238	blood:	n/a	chr7:153687095-153687108 chr7:153687093-153687111
24	CTCF	chr7:153687044-153687151	GM19239	blood:	n/a	chr7:153687095-153687108 chr7:153687093-153687111
25	CTCF	chr7:153687082-153687112	A549	lung:	n/a	chr7:153687095-153687108 chr7:153687093-153687111
26	CTCF	chr7:153687128-153687145	GM12878	blood:	n/a	n/a
27	CTCF	chr7:153712420-153712500	LNCaP	prostate:	n/a	n/a
28	CTCF	chr7:153705011-153705076	ProgFib	skin:	n/a	n/a
29	CTCF	chr7:153712735-153713193	K562	blood:	n/a	n/a
30	CTCF	chr7:153712600-153712750	BE2_C	brain:	n/a	n/a
31	CTCF	chr7:153712842-153712867	HepG2	liver:	n/a	n/a
32	CTCF	chr7:153686897-153687389	K562	blood:	n/a	chr7:153687148-153687161 chr7:153687149-153687159 chr7:153687141-153687162 chr7:153687095-153687108 chr7:153687146-153687164 chr7:153687152-153687161 chr7:153687093-153687111
33	CTCF	chr7:153687030-153687153	GM12891	blood:	n/a	chr7:153687095-153687108 chr7:153687093-153687111
34	CTCF	chr7:153659757-153659816	LNCaP	prostate:	n/a	n/a
35	CTCF	chr7:153712900-153713050	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr7:153712680-153712830	K562	blood:	n/a	n/a
37	CTCF	chr7:153712731-153712909	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr7:153687030-153687158	Gliobla	brain:	n/a	chr7:153687095-153687108 chr7:153687093-153687111
39	CTCF	chr7:153712940-153713090	HEK293	kidney:	n/a	n/a
40	CTCF	chr7:153657784-153657790	GM19239	blood:	n/a	n/a
41	CTCF	chr7:153712920-153713070	NB4	blood:	n/a	n/a
42	CTCF	chr7:153712910-153713130	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr7:153712738-153713158	K562	blood:	n/a	n/a
44	CTCF	chr7:153712810-153712878	ProgFib	skin:	n/a	n/a
45	CTCF	chr7:153687123-153687127	GM12878	blood:	n/a	n/a
46	CTCF	chr7:153686955-153687240	K562	blood:	n/a	chr7:153687148-153687161 chr7:153687149-153687159 chr7:153687141-153687162 chr7:153687095-153687108 chr7:153687146-153687164 chr7:153687152-153687161 chr7:153687093-153687111
47	CTCF	chr7:153656565-153656620	Medullo	brain:	n/a	n/a
48	CTCF	chr7:153672056-153672078	GM20000	blood:	n/a	n/a
49	CTCF	chr7:153686950-153687195	MCF-7	breast:	n/a	chr7:153687148-153687161 chr7:153687149-153687159 chr7:153687141-153687162 chr7:153687095-153687108 chr7:153687146-153687164 chr7:153687152-153687161 chr7:153687093-153687111
50	CTCF	chr7:153710860-153710912	Kidney_OC	kidney:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAXIP1-3	chr7:153724009-153724133	ENSG00000203335.3
2	lnc-PAXIP1-3	chr7:153723372-153723775	ENSG00000203335.3
3	lnc-PAXIP1-3	chr7:153724009-153724131	ENSG00000203335.3
4	lnc-PAXIP1-3	chr7:153723665-153723775	ENSG00000203335.3
5	lnc-PAXIP1-3	chr7:153721094-153721199	ENSG00000203335.3

Variant related genes	Relation type
ENSG00000226509	TF binding region

Extended variants
information (count: 1278 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1278 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370321637	chr7:153655799-153655800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2190996	chr7:153655835-153655836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527382146	chr7:153655839-153655840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548612301	chr7:153655868-153655869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566911732	chr7:153655874-153655875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537405741	chr7:153655881-153655882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549665274	chr7:153655886-153655887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571423447	chr7:153655913-153655914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs137984820	chr7:153656017-153656018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553669163	chr7:153656023-153656024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572530428	chr7:153656036-153656037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377082572	chr7:153656109-153656110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555044335	chr7:153656165-153656166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576516165	chr7:153656177-153656178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543792956	chr7:153656199-153656200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374049079	chr7:153656200-153656201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573931433	chr7:153668893-153668894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544588260	chr7:153668908-153668909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144300623	chr7:153669475-153669476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541527812	chr7:153671807-153671808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559558520	chr7:153671819-153671820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530132449	chr7:153671820-153671821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148083346	chr7:153671843-153671844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10236251	chr7:153671870-153671871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531106592	chr7:153671879-153671880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370708258	chr7:153671884-153671885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570727753	chr7:153671907-153671908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186004804	chr7:153671911-153671912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs39150	chr7:153671940-153671941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565623768	chr7:153671943-153671944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374120806	chr7:153671957-153671958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554604119	chr7:153671977-153671978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555747600	chr7:153672035-153672036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537354650	chr7:153672044-153672045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs39149	chr7:153672048-153672049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191166017	chr7:153672054-153672055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540844029	chr7:153672146-153672147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559829853	chr7:153672161-153672162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574827162	chr7:153672163-153672164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78694955	chr7:153672172-153672173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114015370	chr7:153672188-153672189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569260096	chr7:153685602-153685603	Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs116511594	chr7:153685624-153685625	Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs199601665	chr7:153685635-153685636	Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs540818121	chr7:153685636-153685637	Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs553148631	chr7:153685688-153685689	Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs2907723	chr7:153685698-153685699	Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs574481369	chr7:153685701-153685702	Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs541522207	chr7:153685728-153685729	Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs563312730	chr7:153685737-153685738	Bivalent Enhancer Flanking Bivalent TSS/Enh	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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495309	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153654600-153655800	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr7:153654600-153656200	Enhancers	Brain Hippocampus Middle	brain
3	chr7:153655400-153656000	Enhancers	Brain Substantia Nigra	brain
4	chr7:153671800-153672200	Enhancers	HepG2	liver
5	chr7:153685600-153685800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr7:153685600-153685800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr7:153686800-153687000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr7:153702200-153705200	Enhancers	Fetal Muscle Leg	muscle
9	chr7:153705200-153708000	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:153706600-153708800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:153708000-153708600	Enhancers	Fetal Muscle Leg	muscle
12	chr7:153708200-153708600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr7:153708400-153708600	Enhancers	Psoas Muscle	Psoas
14	chr7:153708600-153711000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:153708600-153717800	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:153708800-153710000	Weak transcription	Psoas Muscle	Psoas
17	chr7:153710000-153710400	Enhancers	Psoas Muscle	Psoas
18	chr7:153711000-153711200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr7:153717800-153718600	Enhancers	Fetal Muscle Leg	muscle
20	chr7:153718600-153719600	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:153719600-153719800	Enhancers	Fetal Muscle Leg	muscle
22	chr7:153719800-153727000	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:153723600-153723800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:153723800-153725000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:153725000-153725400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:153726400-153727600	Enhancers	Fetal Muscle Trunk	muscle
27	chr7:153727000-153729200	Enhancers	Fetal Muscle Leg	muscle

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