Variant report

Variant	nsv892087
Chromosome Location	chr9:3014702-3153178
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	chr9:3151777-3152598	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:3150159-3150316	HepG2	liver:	n/a	n/a
3	ATF2	chr9:3032872-3033291	GM12878	blood:	n/a	n/a
4	ATF2	chr9:3032977-3033245	GM12878	blood:	n/a	n/a
5	BATF	chr9:3032883-3033333	GM12878	blood:	n/a	n/a
6	BATF	chr9:3032986-3033270	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:3032888-3033295	GM12878	blood:	n/a	n/a
8	BHLHE40	chr9:3039378-3039580	K562	blood:	n/a	n/a
9	BRCA1	chr9:3039382-3039534	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr9:3035636-3035931	H1-hESC	embryonic stem cell:	n/a	chr9:3035735-3035747
11	CEBPB	chr9:3125776-3126477	A549	lung:	n/a	chr9:3126307-3126318
12	CEBPB	chr9:3100982-3101195	A549	lung:	n/a	chr9:3101069-3101082 chr9:3101069-3101080
13	CEBPB	chr9:3076507-3076759	A549	lung:	n/a	chr9:3076611-3076622
14	CEBPB	chr9:3137269-3137464	IMR90	lung:	n/a	chr9:3137373-3137384
15	CEBPB	chr9:3126137-3126460	HepG2	liver:	n/a	chr9:3126307-3126318
16	CEBPB	chr9:3125851-3126031	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr9:3076572-3076646	H1-hESC	embryonic stem cell:	n/a	chr9:3076611-3076622
18	CEBPB	chr9:3037652-3037824	HepG2	liver:	n/a	chr9:3037739-3037750
19	CEBPB	chr9:3035690-3035980	MCF-7	breast:	n/a	chr9:3035735-3035747
20	CEBPB	chr9:3043181-3043440	IMR90	lung:	n/a	n/a
21	CEBPB	chr9:3104444-3104652	HepG2	liver:	n/a	chr9:3104530-3104541 chr9:3104508-3104519
22	CEBPB	chr9:3100550-3100731	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr9:3073580-3073780	A549	lung:	n/a	chr9:3073648-3073659 chr9:3073622-3073633
24	CEBPB	chr9:3048009-3048274	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr9:3087894-3088447	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr9:3126173-3126446	IMR90	lung:	n/a	chr9:3126307-3126318
27	CEBPB	chr9:3047995-3048234	IMR90	lung:	n/a	n/a
28	CEBPB	chr9:3120588-3120776	IMR90	lung:	n/a	chr9:3120682-3120693
29	CEBPB	chr9:3035662-3035958	A549	lung:	n/a	chr9:3035735-3035747
30	CEBPB	chr9:3035663-3035905	HepG2	liver:	n/a	chr9:3035735-3035747
31	CEBPB	chr9:3126342-3126432	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr9:3120591-3120746	HepG2	liver:	n/a	chr9:3120682-3120693
33	CEBPB	chr9:3037611-3037901	A549	lung:	n/a	chr9:3037739-3037750
34	CEBPB	chr9:3039378-3039444	K562	blood:	n/a	n/a
35	CEBPB	chr9:3116254-3116374	HepG2	liver:	n/a	chr9:3116302-3116313
36	CEBPB	chr9:3076568-3076703	K562	blood:	n/a	chr9:3076611-3076622
37	CEBPB	chr9:3100940-3101140	HepG2	liver:	n/a	chr9:3101069-3101082 chr9:3101069-3101080
38	CEBPB	chr9:3076452-3076712	IMR90	lung:	n/a	chr9:3076611-3076622
39	CEBPB	chr9:3073535-3073772	HepG2	liver:	n/a	chr9:3073648-3073659 chr9:3073622-3073633
40	CEBPB	chr9:3043175-3043437	A549	lung:	n/a	n/a
41	CEBPB	chr9:3076465-3076788	HepG2	liver:	n/a	chr9:3076611-3076622
42	CTCF	chr9:3135133-3135220	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr9:3125820-3125970	NHDF-neo	bronchial:	n/a	chr9:3125914-3125935 chr9:3125924-3125932
44	CTCF	chr9:3035740-3035890	GM12872	blood:	n/a	n/a
45	CTCF	chr9:3078660-3078694	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr9:3035700-3035850	AG10803	skin:	n/a	n/a
47	CTCF	chr9:3036191-3036301	LNCaP	prostate:	n/a	chr9:3036260-3036281
48	CTCF	chr9:3134900-3135050	RPTEC	kidney:	n/a	n/a
49	CTCF	chr9:3135060-3135210	A549	lung:	n/a	n/a
50	CTCF	chr9:3035720-3035870	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62477919..62478756-chr9:3062250..3062792,2	MCF-7	breast:

Variant related genes	Relation type
CARM1P1	TF binding region

Extended variants
information (count: 3530 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:3530 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2327699	chr9:3014702-3014703	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141753712	chr9:3014731-3014732	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551866828	chr9:3014800-3014801	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565802573	chr9:3014808-3014809	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2327700	chr9:3014813-3014814	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs59763936	chr9:3014819-3014820	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568265449	chr9:3014826-3014827	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs537201872	chr9:3014895-3014896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147196091	chr9:3014903-3014904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570728856	chr9:3014930-3014931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138705553	chr9:3014956-3014957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577030520	chr9:3014957-3014958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372350689	chr9:3014966-3014967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184238045	chr9:3014970-3014971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142752903	chr9:3014988-3014989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147341205	chr9:3015030-3015031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555008718	chr9:3015034-3015035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574711256	chr9:3015038-3015039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545798613	chr9:3015106-3015107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28485138	chr9:3015158-3015159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369479935	chr9:3015213-3015214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545840573	chr9:3015214-3015215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190185632	chr9:3015222-3015223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59131427	chr9:3015259-3015260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372004914	chr9:3015280-3015281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139060993	chr9:3015287-3015288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545824848	chr9:3015299-3015300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562828266	chr9:3015302-3015303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372805095	chr9:3015321-3015322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181848585	chr9:3015332-3015333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531190735	chr9:3015339-3015340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150060532	chr9:3015355-3015356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531726480	chr9:3015364-3015365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185684869	chr9:3015385-3015386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190558406	chr9:3015418-3015419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201203663	chr9:3015422-3015423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181873962	chr9:3015444-3015445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10813222	chr9:3015465-3015466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550770626	chr9:3015533-3015534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575205795	chr9:3015535-3015536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184958514	chr9:3015542-3015543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539341447	chr9:3015543-3015544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546828349	chr9:3015556-3015557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144405754	chr9:3015559-3015560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534986574	chr9:3015593-3015594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56198341	chr9:3015615-3015616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73387576	chr9:3015627-3015628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189765518	chr9:3015656-3015657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181135429	chr9:3015678-3015679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148766241	chr9:3015686-3015687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Ovarian cancer	22355333	CNVD
Autism	20808228	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3007200-3018200	Weak transcription	Fetal Brain Male	brain
2	chr9:3011600-3015000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr9:3013200-3018400	Weak transcription	Adipose Nuclei	Adipose
4	chr9:3013800-3015200	Enhancers	Stomach Mucosa	stomach
5	chr9:3014200-3018200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:3015000-3018200	Weak transcription	Fetal Lung	lung
7	chr9:3018000-3018200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:3018200-3018600	Enhancers	Fetal Lung	lung
9	chr9:3018200-3019200	Enhancers	Stomach Smooth Muscle	stomach
10	chr9:3018200-3019800	Enhancers	Fetal Brain Male	brain
11	chr9:3018400-3019200	Enhancers	Adipose Nuclei	Adipose
12	chr9:3018400-3019600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:3018600-3018800	Weak transcription	Fetal Lung	lung
14	chr9:3018600-3019600	Enhancers	Fetal Brain Female	brain
15	chr9:3018800-3019000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:3018800-3019000	Enhancers	Ovary	ovary
17	chr9:3018800-3019200	Enhancers	Brain Cingulate Gyrus	brain
18	chr9:3018800-3019200	Enhancers	Fetal Lung	lung
19	chr9:3018800-3019200	Enhancers	Fetal Muscle Leg	muscle
20	chr9:3018800-3020000	Enhancers	Psoas Muscle	Psoas
21	chr9:3019200-3028000	Weak transcription	Adipose Nuclei	Adipose
22	chr9:3019200-3028600	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:3019600-3020400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr9:3019800-3020600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:3020000-3020400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr9:3020000-3020400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr9:3023400-3023800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:3023400-3024000	Enhancers	NHEK	skin
29	chr9:3025600-3025800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:3026000-3027200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:3026800-3029200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr9:3026800-3029200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:3027000-3029200	Enhancers	Fetal Brain Male	brain
34	chr9:3027200-3027400	Enhancers	Psoas Muscle	Psoas
35	chr9:3027200-3027600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:3027200-3027600	Enhancers	Fetal Stomach	stomach
37	chr9:3027200-3027600	Enhancers	Stomach Smooth Muscle	stomach
38	chr9:3027400-3027800	Enhancers	Fetal Brain Female	brain
39	chr9:3027600-3028600	Weak transcription	Fetal Stomach	stomach
40	chr9:3027600-3029000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:3027800-3028800	Weak transcription	Fetal Brain Female	brain
42	chr9:3028000-3029200	Enhancers	Adipose Nuclei	Adipose
43	chr9:3028200-3029200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:3028600-3029200	Enhancers	Psoas Muscle	Psoas
45	chr9:3028600-3029600	Enhancers	Fetal Muscle Leg	muscle
46	chr9:3028800-3029000	Enhancers	Fetal Stomach	stomach
47	chr9:3028800-3029200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:3028800-3029400	Enhancers	Fetal Brain Female	brain
49	chr9:3029000-3029200	Enhancers	Stomach Smooth Muscle	stomach
50	chr9:3029200-3035600	Weak transcription	Adipose Nuclei	Adipose

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