Variant report

Variant	nsv982323
Chromosome Location	chr9:97125305-97137721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:444)
CpG islands
(count:305)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr9:97136408-97136810	K562	blood:	n/a	n/a
2	ATF3	chr9:97136451-97136657	HepG2	liver:	n/a	chr9:97136635-97136644 chr9:97136623-97136643
3	ATF3	chr9:97136437-97136651	K562	blood:	n/a	chr9:97136635-97136644 chr9:97136623-97136643
4	BATF	chr9:97136440-97136776	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:97137454-97137709	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:97136495-97136725	GM12878	blood:	n/a	n/a
7	BHLHE40	chr9:97136571-97136905	K562	blood:	n/a	chr9:97136834-97136850
8	BHLHE40	chr9:97136590-97136821	GM12878	blood:	n/a	n/a
9	BRCA1	chr9:97136553-97136781	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr9:97137432-97137777	K562	blood:	n/a	n/a
11	CBX3	chr9:97136369-97136913	K562	blood:	n/a	n/a
12	CBX3	chr9:97136409-97136799	K562	blood:	n/a	n/a
13	CCNT2	chr9:97136632-97137246	K562	blood:	n/a	n/a
14	CEBPB	chr9:97136454-97136744	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr9:97136443-97136566	K562	blood:	n/a	n/a
16	CEBPB	chr9:97137679-97137875	IMR90	lung:	n/a	chr9:97137843-97137856
17	CEBPB	chr9:97137668-97137868	K562	blood:	n/a	chr9:97137843-97137856
18	CEBPD	chr9:97136686-97136904	HepG2	liver:	n/a	n/a
19	CEBPD	chr9:97136372-97137008	K562	blood:	n/a	n/a
20	CHD2	chr9:97136546-97136909	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr9:97136542-97136795	GM12878	blood:	n/a	n/a
22	CREB1	chr9:97136530-97136998	GM12878	blood:	n/a	n/a
23	CREB1	chr9:97136434-97136765	A549	lung:	n/a	n/a
24	CREB1	chr9:97136528-97136995	K562	blood:	n/a	n/a
25	CREB1	chr9:97136442-97137059	A549	lung:	n/a	n/a
26	CREB1	chr9:97136551-97137015	HepG2	liver:	n/a	n/a
27	CREB1	chr9:97136680-97137007	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr9:97136539-97136849	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr9:97136715-97136748	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr9:97136679-97136684	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr9:97137556-97137597	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr9:97136639-97136747	Lung_OC	lung:	n/a	n/a
33	CTCF	chr9:97137583-97137652	MCF-7	breast:	n/a	n/a
34	CTCF	chr9:97127283-97127442	GM13976	blood:	n/a	n/a
35	E2F4	chr9:97136421-97136944	MCF10A-Er-Src	breast:	n/a	chr9:97136779-97136789 chr9:97136780-97136790 chr9:97136797-97136806 chr9:97136630-97136642
36	E2F6	chr9:97136689-97136878	K562	blood:	n/a	chr9:97136779-97136789 chr9:97136780-97136790 chr9:97136797-97136806
37	E2F6	chr9:97137163-97137256	K562	blood:	n/a	chr9:97137216-97137225
38	EBF1	chr9:97136408-97137293	GM12878	blood:	n/a	n/a
39	EGR1	chr9:97136688-97136900	K562	blood:	n/a	chr9:97136797-97136807
40	ELF1	chr9:97136457-97136743	K562	blood:	n/a	n/a
41	ELF1	chr9:97136423-97136974	GM12878	blood:	n/a	n/a
42	ELF1	chr9:97137515-97137744	GM12878	blood:	n/a	n/a
43	ELF1	chr9:97136439-97136662	HepG2	liver:	n/a	n/a
44	ELF1	chr9:97137447-97137724	K562	blood:	n/a	n/a
45	ELF1	chr9:97136422-97136672	A549	lung:	n/a	n/a
46	ELF1	chr9:97136527-97136971	K562	blood:	n/a	n/a
47	ELF1	chr9:97137469-97137722	K562	blood:	n/a	n/a
48	ELF1	chr9:97136413-97136860	GM12878	blood:	n/a	n/a
49	ELK1	chr9:97136574-97136756	Hela-S3	cervix:	n/a	n/a
50	ELK1	chr9:97136664-97136692	GM12878	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:97136363-97136413	HMEC	breast:	n/a
2	chr9:97136929-97136979	GM12878	blood:	n/a
3	chr9:97137570-97137620	HEEpiC	esophagus:	n/a
4	chr9:97135153-97135203	Hepatocyte	liver:	n/a
5	chr9:97136807-97136857	BJ	skin:	n/a
6	chr9:97136929-97136979	PFSK-1	brain:	n/a
7	chr9:97136929-97136979	GM12892	blood:	n/a
8	chr9:97136807-97136857	MCF-7	breast:	n/a
9	chr9:97136363-97136413	Hepatocyte	liver:	n/a
10	chr9:97136929-97136979	LNCaP	prostate:	n/a
11	chr9:97137570-97137620	GM19239	blood:	n/a
12	chr9:97136929-97136979	PrEC	prostate:	n/a
13	chr9:97135153-97135203	RPTEC	kidney:	n/a
14	chr9:97136929-97136979	PANC-1	pancreas:	n/a
15	chr9:97136363-97136413	PrEC	prostate:	n/a
16	chr9:97136363-97136413	MCF10A-Er-Src	breast:	n/a
17	chr9:97137570-97137620	MCF-7	breast:	n/a
18	chr9:97136807-97136857	HRPEpiC	eye:	n/a
19	chr9:97136363-97136413	GM06990	blood:	n/a
20	chr9:97136363-97136413	SK-N-SH_RA	brain:	n/a
21	chr9:97136363-97136413	A549	lung:	n/a
22	chr9:97137570-97137620	ECC-1	luminal epithelium:	n/a
23	chr9:97136363-97136413	HRE	kidney:	n/a
24	chr9:97136363-97136413	Jurkat	blood:	n/a
25	chr9:97136363-97136413	HEEpiC	esophagus:	n/a
26	chr9:97136363-97136413	SKMC	muscle:	n/a
27	chr9:97136807-97136857	SAEC	small airway:	n/a
28	chr9:97137570-97137620	NH-A	brain:	n/a
29	chr9:97136807-97136857	GM19239	blood:	n/a
30	chr9:97137570-97137620	GM12892	blood:	n/a
31	chr9:97136807-97136857	T-47D	breast:	n/a
32	chr9:97137570-97137620	AG04449	skin:	fetal
33	chr9:97135153-97135203	ProgFib	skin:	n/a
34	chr9:97136807-97136857	SK-N-MC	brain:	n/a
35	chr9:97136807-97136857	HMEC	breast:	n/a
36	chr9:97136363-97136413	MCF-7	breast:	n/a
37	chr9:97136929-97136979	HCF	heart:	n/a
38	chr9:97136363-97136413	HIPEpiC	eye:	n/a
39	chr9:97136929-97136979	IMR90	lung:	fetal
40	chr9:97136807-97136857	ovcar-3	ovarian:	n/a
41	chr9:97136807-97136857	HPAEpiC	pulmonary alveolar:	n/a
42	chr9:97135153-97135203	IMR90	lung:	fetal
43	chr9:97135153-97135203	SKMC	muscle:	n/a
44	chr9:97135153-97135203	HEK293	kidney:	embryo
45	chr9:97136363-97136413	AG10803	skin:	n/a
46	chr9:97135153-97135203	HCF	heart:	n/a
47	chr9:97136807-97136857	HL-60	blood:	n/a
48	chr9:97135153-97135203	SK-N-SH	brain:	n/a
49	chr9:97136807-97136857	GM06990	blood:	n/a
50	chr9:97136929-97136979	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97137075..97138067-chr9:99774972..99775493,2	MCF-7	breast:
2	chr9:97135317..97137962-chr9:99774801..99776499,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIATL1	TF binding region
HIATL1	CpG island
ENSG00000196312	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573456199	chr9:97125338-97125339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9409737	chr9:97125384-97125385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114280329	chr9:97125577-97125578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2809773	chr9:97125582-97125583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111689732	chr9:97125603-97125604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200399263	chr9:97126105-97126106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562862654	chr9:97126106-97126107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200917133	chr9:97126107-97126108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552030994	chr9:97126196-97126197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182409371	chr9:97126399-97126400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146237786	chr9:97126406-97126407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75789179	chr9:97126452-97126453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528285642	chr9:97126495-97126496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2769742	chr9:97126515-97126516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546742945	chr9:97126537-97126538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568062939	chr9:97126548-97126549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2769743	chr9:97126552-97126553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535490672	chr9:97126568-97126569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542715676	chr9:97126601-97126602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550344694	chr9:97126627-97126628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568868328	chr9:97126657-97126658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540166326	chr9:97126685-97126686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558476105	chr9:97126775-97126776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573546334	chr9:97126822-97126823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142037702	chr9:97126870-97126871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151182134	chr9:97126891-97126892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560774105	chr9:97126917-97126918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574061965	chr9:97126918-97126919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141221517	chr9:97126931-97126932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562568700	chr9:97126933-97126934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577597520	chr9:97126969-97126970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189080495	chr9:97127003-97127004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573122119	chr9:97127032-97127033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534617852	chr9:97127128-97127129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528341209	chr9:97127197-97127198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546487202	chr9:97127310-97127311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368849712	chr9:97127653-97127654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62579697	chr9:97127696-97127697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529025318	chr9:97127726-97127727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550629698	chr9:97127734-97127735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202003493	chr9:97127736-97127737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551367571	chr9:97127843-97127844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567177689	chr9:97127881-97127882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534467538	chr9:97128079-97128080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555727034	chr9:97128084-97128085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199586662	chr9:97128094-97128095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540412338	chr9:97128105-97128106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142508875	chr9:97128174-97128175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537987215	chr9:97128219-97128220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150273523	chr9:97128292-97128293	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97123600-97128000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr9:97128000-97128400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr9:97136000-97136200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr9:97136000-97136200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr9:97136000-97136200	Enhancers	Primary hematopoietic stem cells	blood
6	chr9:97136000-97137800	Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr9:97136000-97138000	Active TSS	Primary monocytes fromperipheralblood	blood
8	chr9:97136000-97138400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:97136200-97136400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr9:97136200-97136400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr9:97136200-97136600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr9:97136200-97136600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr9:97136200-97136600	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr9:97136200-97136600	Active TSS	Fetal Brain Male	brain
15	chr9:97136200-97136600	Active TSS	Fetal Heart	heart
16	chr9:97136200-97136600	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr9:97136200-97137000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr9:97136200-97137000	Active TSS	Brain Substantia Nigra	brain
19	chr9:97136200-97137800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr9:97136200-97137800	Active TSS	Primary B cells from peripheral blood	blood
21	chr9:97136200-97137800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr9:97136200-97137800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:97136200-97137800	Active TSS	Brain Anterior Caudate	brain
24	chr9:97136200-97137800	Active TSS	Brain Hippocampus Middle	brain
25	chr9:97136200-97137800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:97136200-97137800	Active TSS	Colonic Mucosa	Colon
27	chr9:97136200-97137800	Active TSS	Placenta	Placenta
28	chr9:97136200-97137800	Active TSS	Ovary	ovary
29	chr9:97136200-97137800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr9:97136200-97138000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr9:97136200-97138000	Active TSS	H1 Cell Line	embryonic stem cell
32	chr9:97136200-97138000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr9:97136200-97138000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:97136200-97138000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr9:97136200-97138000	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr9:97136200-97138000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr9:97136200-97138000	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr9:97136200-97138000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr9:97136200-97138000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:97136200-97138000	Active TSS	Primary B cells from cord blood	blood
41	chr9:97136200-97138000	Active TSS	Primary T cells from cord blood	blood
42	chr9:97136200-97138000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr9:97136200-97138000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr9:97136200-97138000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:97136200-97138000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:97136200-97138000	Active TSS	Adipose Nuclei	Adipose
47	chr9:97136200-97138000	Active TSS	Liver	Liver
48	chr9:97136200-97138000	Active TSS	Brain Cingulate Gyrus	brain
49	chr9:97136200-97138000	Active TSS	Brain Germinal Matrix	brain
50	chr9:97136200-97138000	Active TSS	Brain Inferior Temporal Lobe	brain

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