Variant report

Variant	nsv968704
Chromosome Location	chr9:71285702-71310097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71199101..71200031-chr9:71292976..71293754,4	MCF-7	breast:
2	chr9:71199112..71200053-chr9:71300525..71301257,2	MCF-7	breast:
3	chr9:71287783..71290645-chr9:71299909..71302251,2	MCF-7	breast:
4	chr9:71198876..71200125-chr9:71300333..71301861,19	MCF-7	breast:
5	chr9:71295770..71299362-chr9:71300231..71303352,3	K562	blood:
6	chr9:71285623..71287326-chr9:71290536..71292237,2	K562	blood:
7	chr9:71304980..71307129-chr9:71354000..71355533,2	MCF-7	breast:
8	chr9:71198182..71198791-chr9:71300404..71301342,2	MCF-7	breast:
9	chr9:71295770..71299362-chr9:71300231..71303352,3	K562	blood:
10	chr9:71287783..71290645-chr9:71299909..71302251,2	MCF-7	breast:
11	chr9:71307012..71309934-chr9:71319801..71321541,3	MCF-7	breast:
12	chr9:71285623..71287326-chr9:71290536..71292237,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107242	chromatin interactions

Extended variants
information (count: 879 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565343048	chr9:71285771-71285772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572132895	chr9:71285779-71285780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143766702	chr9:71285815-71285816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34545335	chr9:71285831-71285832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527935104	chr9:71285834-71285835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112411305	chr9:71285941-71285942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138510407	chr9:71285955-71285956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7032654	chr9:71285971-71285972	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142531270	chr9:71285972-71285973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564998867	chr9:71285981-71285982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80140292	chr9:71286057-71286058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559111298	chr9:71286075-71286076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114629906	chr9:71286079-71286080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145898512	chr9:71286126-71286127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192412379	chr9:71286169-71286170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185006994	chr9:71286171-71286172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550168449	chr9:71286281-71286282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541258323	chr9:71286314-71286315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79224950	chr9:71286327-71286328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548151395	chr9:71286332-71286333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566275024	chr9:71286339-71286340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536876172	chr9:71286361-71286362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34737560	chr9:71286445-71286446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398087307	chr9:71286450-71286451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145921022	chr9:71286451-71286452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201684615	chr9:71286452-71286453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554353333	chr9:71286497-71286498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138708753	chr9:71286510-71286511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187368531	chr9:71286522-71286523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558532600	chr9:71286526-71286527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141161076	chr9:71286546-71286547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560989310	chr9:71286692-71286693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192198366	chr9:71286702-71286703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184691339	chr9:71286783-71286784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574275440	chr9:71286786-71286787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542021089	chr9:71286876-71286877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561194041	chr9:71286908-71286909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531839842	chr9:71286917-71286918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549868834	chr9:71287041-71287042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565272582	chr9:71287065-71287066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567066080	chr9:71287067-71287068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150709292	chr9:71287091-71287092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548088979	chr9:71287112-71287113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386414967	chr9:71287114-71287115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11421387	chr9:71287134-71287135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375715553	chr9:71287135-71287136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566411705	chr9:71287158-71287159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536808924	chr9:71287185-71287186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12683709	chr9:71287200-71287201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548787179	chr9:71287214-71287215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71282000-71286400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr9:71282000-71286600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:71282200-71286400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:71282400-71286400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:71282400-71286400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:71283000-71289400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:71283200-71285800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:71283400-71285800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:71283600-71287200	Weak transcription	Fetal Heart	heart
10	chr9:71284200-71286400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:71284400-71286400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:71284600-71285800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr9:71284600-71287200	Weak transcription	Left Ventricle	heart
14	chr9:71284800-71287400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:71285000-71286000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:71285600-71286400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr9:71285800-71286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:71285800-71286200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr9:71285800-71286400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr9:71286000-71286800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:71286800-71293000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:71287200-71287400	Enhancers	Left Ventricle	heart
23	chr9:71287200-71288400	Enhancers	Fetal Heart	heart
24	chr9:71287400-71290200	Weak transcription	Left Ventricle	heart
25	chr9:71287400-71293000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:71288400-71288600	Enhancers	Placenta	Placenta
27	chr9:71289400-71289600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:71289600-71290200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:71290200-71290400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:71290200-71290400	Enhancers	Left Ventricle	heart
31	chr9:71290400-71291800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:71292000-71294000	Enhancers	Fetal Heart	heart
33	chr9:71292200-71293000	Enhancers	HepG2	liver
34	chr9:71292800-71294000	Enhancers	Primary B cells from peripheral blood	blood
35	chr9:71293000-71293600	Flanking Active TSS	HepG2	liver
36	chr9:71293000-71293800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:71293000-71294000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:71293200-71293400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
39	chr9:71293200-71293400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr9:71293200-71293400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
41	chr9:71293200-71293600	Enhancers	Right Ventricle	heart
42	chr9:71293200-71293800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:71293200-71293800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr9:71293400-71293800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr9:71293400-71293800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr9:71293600-71293800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:71293600-71293800	Enhancers	HepG2	liver
48	chr9:71294000-71296600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr9:71294000-71298200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:71294000-71298200	Weak transcription	Fetal Heart	heart

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