Variant report

Variant	nsv892279
Chromosome Location	chr9:9789202-9798092
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	chr9:9790306-9790512	HepG2	liver:	n/a	n/a
2	BHLHE40	chr9:9790315-9790593	GM12878	blood:	n/a	n/a
3	BRCA1	chr9:9790311-9790476	HepG2	liver:	n/a	n/a
4	CTCF	chr9:9790360-9790510	GM12872	blood:	n/a	chr9:9790450-9790458
5	CTCF	chr9:9791760-9791910	GM06990	blood:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
6	CTCF	chr9:9790380-9790530	SAEC	small airway:	n/a	chr9:9790450-9790458
7	CTCF	chr9:9790329-9790576	GM10266	blood:	n/a	chr9:9790450-9790458
8	CTCF	chr9:9791754-9791957	MCF-7	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
9	CTCF	chr9:9790360-9790510	GM12874	blood:	n/a	chr9:9790450-9790458
10	CTCF	chr9:9791736-9792014	MCF-7	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
11	CTCF	chr9:9790246-9790633	T-47D	breast:	n/a	chr9:9790450-9790458
12	CTCF	chr9:9790372-9790450	NHEK	skin:	n/a	n/a
13	CTCF	chr9:9790320-9790521	HepG2	liver:	n/a	chr9:9790450-9790458
14	CTCF	chr9:9790380-9790530	GM12867	blood:	n/a	chr9:9790450-9790458
15	CTCF	chr9:9790400-9790550	HEEpiC	esophagus:	n/a	chr9:9790450-9790458
16	CTCF	chr9:9790346-9790563	Lung_OC	lung:	n/a	chr9:9790450-9790458
17	CTCF	chr9:9790380-9790530	HRE	kidney:	n/a	chr9:9790450-9790458
18	CTCF	chr9:9790400-9790550	GM12872	blood:	n/a	chr9:9790450-9790458
19	CTCF	chr9:9790380-9790530	HL-60	blood:	n/a	chr9:9790450-9790458
20	CTCF	chr9:9790306-9790518	A549	lung:	n/a	chr9:9790450-9790458
21	CTCF	chr9:9790380-9790530	GM12875	blood:	n/a	chr9:9790450-9790458
22	CTCF	chr9:9790380-9790530	GM06990	blood:	n/a	chr9:9790450-9790458
23	CTCF	chr9:9791760-9791910	HRPEpiC	eye:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
24	CTCF	chr9:9790334-9790531	SK-N-SH_RA	brain:	n/a	chr9:9790450-9790458
25	CTCF	chr9:9790400-9790550	HCT-116	colon:	n/a	chr9:9790450-9790458
26	CTCF	chr9:9790380-9790530	HFF-Myc	foreskin:	n/a	chr9:9790450-9790458
27	CTCF	chr9:9791780-9791930	HMF	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
28	CTCF	chr9:9790400-9790550	GM06990	blood:	n/a	chr9:9790450-9790458
29	CTCF	chr9:9791740-9791890	HA-sp	spinal cord:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
30	CTCF	chr9:9790380-9790530	GM12872	blood:	n/a	chr9:9790450-9790458
31	CTCF	chr9:9790400-9790550	Hela-S3	cervix:	n/a	chr9:9790450-9790458
32	CTCF	chr9:9790331-9790573	GM13977	blood:	n/a	chr9:9790450-9790458
33	CTCF	chr9:9790330-9790461	GM19238	blood:	n/a	chr9:9790450-9790458
34	CTCF	chr9:9790360-9790510	GM12873	blood:	n/a	chr9:9790450-9790458
35	CTCF	chr9:9790500-9790650	HFF	foreskin:	n/a	n/a
36	CTCF	chr9:9790400-9790550	AG04449	skin:	n/a	chr9:9790450-9790458
37	CTCF	chr9:9791800-9791950	HMF	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
38	CTCF	chr9:9791840-9791990	GM12865	blood:	n/a	chr9:9791844-9791862
39	CTCF	chr9:9790380-9790530	GM12864	blood:	n/a	chr9:9790450-9790458
40	CTCF	chr9:9791843-9791895	Spleen_OC	spleen:	n/a	chr9:9791844-9791862
41	CTCF	chr9:9790326-9790574	LNCaP	prostate:	n/a	chr9:9790450-9790458
42	CTCF	chr9:9790340-9790490	NHDF-neo	bronchial:	n/a	chr9:9790450-9790458
43	CTCF	chr9:9790316-9790569	MCF-7	breast:	n/a	chr9:9790450-9790458
44	CTCF	chr9:9790380-9790530	GM12878	blood:	n/a	chr9:9790450-9790458
45	CTCF	chr9:9790325-9790561	Gliobla	brain:	n/a	chr9:9790450-9790458
46	CTCF	chr9:9791727-9791967	HUVEC	blood vessel:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
47	CTCF	chr9:9791780-9791930	HPAF	blood vessel:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
48	CTCF	chr9:9791740-9791890	BE2_C	brain:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
49	CTCF	chr9:9791780-9791930	AG09319	gingival:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
50	CTCF	chr9:9790300-9790450	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:9606480..9607195-chr9:9789919..9790916,3	MCF-7	breast:
2	chr9:9606153..9607209-chr9:9791346..9792141,4	MCF-7	breast:
3	chr9:9606591..9607143-chr9:9791328..9791942,2	MCF-7	breast:
4	chr9:9606507..9607603-chr9:9789935..9790958,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230920	TF binding region

Extended variants
information (count: 166 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17232558	chr9:9789202-9789203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563094694	chr9:9789203-9789204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531408714	chr9:9789252-9789253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576437059	chr9:9789259-9789260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374149453	chr9:9789301-9789302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542219484	chr9:9789307-9789308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550942435	chr9:9789321-9789322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186328853	chr9:9789334-9789335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148212941	chr9:9789341-9789342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112533381	chr9:9789350-9789351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564654771	chr9:9789356-9789357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10977977	chr9:9789362-9789363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs534693095	chr9:9790023-9790024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146017692	chr9:9790029-9790030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118071760	chr9:9790059-9790060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543519700	chr9:9790062-9790063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563495072	chr9:9790105-9790106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184238878	chr9:9790111-9790112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543248257	chr9:9790123-9790124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139979826	chr9:9790126-9790127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143343331	chr9:9790133-9790134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144535347	chr9:9790144-9790145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564084520	chr9:9790187-9790188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1174590	chr9:9790222-9790223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549904277	chr9:9790235-9790236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2147070	chr9:9790306-9790307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535281264	chr9:9790307-9790308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201425982	chr9:9790310-9790311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534175568	chr9:9790342-9790343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2025393	chr9:9790346-9790347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2761733	chr9:9790379-9790380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546203643	chr9:9790383-9790384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188850500	chr9:9790399-9790400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115736576	chr9:9791413-9791414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114185487	chr9:9791416-9791417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181354305	chr9:9791417-9791418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145357989	chr9:9791444-9791445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541004973	chr9:9791447-9791448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147737163	chr9:9791495-9791496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536300521	chr9:9791515-9791516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563941860	chr9:9791518-9791519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12554613	chr9:9791522-9791523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566891171	chr9:9791527-9791528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185812557	chr9:9791532-9791533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533224494	chr9:9791543-9791544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539219258	chr9:9791603-9791604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559222858	chr9:9791608-9791609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570174196	chr9:9791610-9791611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146912107	chr9:9791635-9791636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544931305	chr9:9791640-9791641	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9789200-9789400	Enhancers	Liver	Liver
2	chr9:9790000-9790400	Enhancers	Dnd41	blood
3	chr9:9790200-9790400	Enhancers	Liver	Liver
4	chr9:9791400-9793000	Enhancers	Primary B cells from cord blood	blood
5	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells	blood
6	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:9792200-9792800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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