Variant report

Variant	nsv6548
Chromosome Location	chr9:71429527-71470917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:431)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:431 , 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	ARID3A	chr9:71431767-71432536	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:71460000-71460212	K562	blood:	n/a	n/a
3	ARID3A	chr9:71432365-71432517	K562	blood:	n/a	n/a
4	ATF1	chr9:71434023-71434218	K562	blood:	n/a	n/a
5	BACH1	chr9:71440605-71440702	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr9:71470643-71470787	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr9:71434026-71434318	GM12878	blood:	n/a	n/a
8	BCLAF1	chr9:71459563-71460280	GM12878	blood:	n/a	n/a
9	BHLHE40	chr9:71459952-71460210	K562	blood:	n/a	n/a
10	BHLHE40	chr9:71437438-71437970	K562	blood:	n/a	chr9:71437641-71437662 chr9:71437646-71437655
11	BHLHE40	chr9:71432034-71432370	HepG2	liver:	n/a	n/a
12	BHLHE40	chr9:71442911-71443570	K562	blood:	n/a	n/a
13	CBX3	chr9:71442943-71443333	K562	blood:	n/a	n/a
14	CEBPB	chr9:71459165-71459482	HepG2	liver:	n/a	chr9:71459303-71459314
15	CEBPB	chr9:71432025-71432394	HepG2	liver:	n/a	chr9:71432226-71432237
16	CEBPB	chr9:71455782-71455871	HepG2	liver:	n/a	chr9:71455836-71455847
17	CEBPB	chr9:71442846-71443159	HepG2	liver:	n/a	n/a
18	CEBPB	chr9:71432135-71432282	K562	blood:	n/a	chr9:71432226-71432237
19	CEBPB	chr9:71443364-71443491	K562	blood:	n/a	n/a
20	CEBPB	chr9:71432050-71432324	HepG2	liver:	n/a	chr9:71432226-71432237
21	CEBPB	chr9:71459130-71459459	K562	blood:	n/a	chr9:71459303-71459314
22	CEBPB	chr9:71448147-71448455	K562	blood:	n/a	n/a
23	CEBPB	chr9:71442858-71443604	K562	blood:	n/a	n/a
24	CEBPB	chr9:71443319-71443495	K562	blood:	n/a	n/a
25	CEBPB	chr9:71433861-71434223	K562	blood:	n/a	n/a
26	CEBPB	chr9:71432022-71432406	HepG2	liver:	n/a	chr9:71432226-71432237
27	CEBPB	chr9:71433882-71434131	K562	blood:	n/a	n/a
28	CEBPB	chr9:71450127-71450367	HepG2	liver:	n/a	n/a
29	CEBPB	chr9:71459217-71459475	IMR90	lung:	n/a	chr9:71459303-71459314
30	CEBPB	chr9:71459238-71459443	A549	lung:	n/a	chr9:71459303-71459314
31	CEBPB	chr9:71448178-71448491	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr9:71432047-71432318	HepG2	liver:	n/a	chr9:71432226-71432237
33	CEBPD	chr9:71447958-71448286	K562	blood:	n/a	n/a
34	CREB1	chr9:71462667-71463177	GM12878	blood:	n/a	n/a
35	CREB1	chr9:71462600-71463126	GM12878	blood:	n/a	n/a
36	CTCF	chr9:71460040-71460190	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr9:71460020-71460170	GM12864	blood:	n/a	n/a
38	CTCF	chr9:71460040-71460190	AG09309	skin:	n/a	n/a
39	CTCF	chr9:71460020-71460170	HMEC	breast:	n/a	n/a
40	CTCF	chr9:71460000-71460150	BJ	skin:	n/a	n/a
41	CTCF	chr9:71459997-71460220	ProgFib	skin:	n/a	n/a
42	CTCF	chr9:71460002-71460218	GM12891	blood:	n/a	n/a
43	CTCF	chr9:71460020-71460170	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr9:71460006-71460217	GM12892	blood:	n/a	n/a
45	CTCF	chr9:71459954-71460259	K562	blood:	n/a	n/a
46	CTCF	chr9:71460040-71460190	BE2_C	brain:	n/a	n/a
47	CTCF	chr9:71460020-71460170	AG04450	lung:	n/a	n/a
48	CTCF	chr9:71460001-71460231	A549	lung:	n/a	n/a
49	CTCF	chr9:71460040-71460190	HPF	lung:	n/a	n/a
50	CTCF	chr9:71460220-71460370	HA-sp	spinal cord:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71459669..71460505-chr9:71614463..71615113,2	MCF-7	breast:
2	chr9:71437717..71440700-chr9:71443079..71445018,2	K562	blood:
3	chr9:71199104..71200136-chr9:71459624..71460607,5	MCF-7	breast:
4	chr9:71461301..71463478-chr9:71469350..71471560,2	K562	blood:
5	chr9:71461301..71463478-chr9:71469350..71471560,2	K562	blood:
6	chr9:71424350..71426384-chr9:71436426..71438854,2	K562	blood:
7	chr9:71468331..71470715-chr9:71473638..71476429,2	K562	blood:
8	chr9:71459672..71460600-chr9:71642433..71642935,2	K562	blood:
9	chr9:71392481..71394675-chr9:71428955..71431546,2	K562	blood:
10	chr9:71451909..71453715-chr9:71457092..71459544,2	K562	blood:
11	chr9:71465582..71467985-chr9:71469828..71471360,2	MCF-7	breast:
12	chr9:71199142..71200264-chr9:71459602..71460948,4	K562	blood:
13	chr9:71199061..71199763-chr9:71459847..71460712,3	MCF-7	breast:
14	chr9:71438576..71440423-chr9:71455612..71458592,2	K562	blood:
15	chr9:71437717..71440700-chr9:71443079..71445018,2	K562	blood:
16	chr9:71320265..71322266-chr9:71464991..71467185,2	K562	blood:
17	chr9:71465582..71467985-chr9:71469828..71471360,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKACG-3	chr9:71458083-71458191	ENSG00000236733.1
2	lnc-PRKACG-3	chr9:71439046-71439206	ENSG00000236733.1
3	lnc-PRKACG-3	chr9:71437319-71437564	ENSG00000236733.1

No data

Variant related genes	Relation type
ENSG00000236733	TF binding region
ENSG00000236733	chromatin interactions
ENSG00000107242	chromatin interactions

Extended variants
information (count: 1417 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1417 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368093468	chr9:71429548-71429549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146215794	chr9:71429570-71429571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571675880	chr9:71429594-71429595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539302682	chr9:71429600-71429601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12555750	chr9:71429611-71429612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs572803367	chr9:71429612-71429613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144780696	chr9:71429613-71429614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181953264	chr9:71429650-71429651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576053219	chr9:71429743-71429744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543508080	chr9:71429754-71429755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567967420	chr9:71429789-71429790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7019684	chr9:71429800-71429801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs74308342	chr9:71429822-71429823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540899717	chr9:71429843-71429844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185686284	chr9:71429859-71429860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139117269	chr9:71429860-71429861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149902374	chr9:71429877-71429878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563549003	chr9:71429918-71429919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7865412	chr9:71429987-71429988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74647301	chr9:71429996-71429997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571639115	chr9:71430000-71430001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532526383	chr9:71430003-71430004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547844281	chr9:71430004-71430005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566231540	chr9:71430068-71430069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369706683	chr9:71430150-71430151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116980237	chr9:71430153-71430154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12551225	chr9:71430158-71430159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs374194516	chr9:71430161-71430162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11454489	chr9:71430183-71430184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10114785	chr9:71430203-71430204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144910934	chr9:71430222-71430223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188980641	chr9:71430357-71430358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7869452	chr9:71430360-71430361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140776260	chr9:71430372-71430373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552593212	chr9:71430408-71430409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181681641	chr9:71430486-71430487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144905187	chr9:71430505-71430506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146746014	chr9:71430508-71430509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7035999	chr9:71430571-71430572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191544552	chr9:71430572-71430573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565361184	chr9:71430582-71430583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532692951	chr9:71430636-71430637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547808464	chr9:71430654-71430655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28484614	chr9:71430705-71430706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542542732	chr9:71430723-71430724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35367629	chr9:71430725-71430726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112202956	chr9:71430761-71430762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10124098	chr9:71430774-71430775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10115536	chr9:71430821-71430822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374958718	chr9:71430883-71430884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71404600-71431400	Weak transcription	HepG2	liver
2	chr9:71414000-71437000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:71414000-71445000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:71418600-71444800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:71420800-71434600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:71421000-71431800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:71421000-71437600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:71421200-71437200	Weak transcription	Stomach Mucosa	stomach
9	chr9:71421200-71437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:71421400-71443000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:71421800-71433000	Weak transcription	Fetal Intestine Large	intestine
12	chr9:71422600-71434400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr9:71422600-71438200	Weak transcription	GM12878-XiMat	blood
14	chr9:71422600-71441000	Weak transcription	Fetal Stomach	stomach
15	chr9:71425000-71448600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr9:71426400-71434800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:71427000-71437000	Weak transcription	Left Ventricle	heart
18	chr9:71428200-71432000	Weak transcription	K562	blood
19	chr9:71428200-71433200	Weak transcription	Primary B cells from cord blood	blood
20	chr9:71428800-71431000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:71428800-71432000	Weak transcription	Aorta	Aorta
22	chr9:71428800-71437200	Weak transcription	Fetal Heart	heart
23	chr9:71429200-71431400	Weak transcription	Fetal Intestine Small	intestine
24	chr9:71431000-71431800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:71431400-71431600	Enhancers	Fetal Intestine Small	intestine
26	chr9:71431400-71431800	Enhancers	HepG2	liver
27	chr9:71431600-71432200	Weak transcription	Fetal Intestine Small	intestine
28	chr9:71431800-71432200	Flanking Active TSS	HepG2	liver
29	chr9:71431800-71432400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr9:71431800-71432800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:71432000-71432200	Enhancers	Aorta	Aorta
32	chr9:71432000-71434600	Enhancers	K562	blood
33	chr9:71432200-71433200	Enhancers	Fetal Intestine Small	intestine
34	chr9:71432200-71433400	Enhancers	HepG2	liver
35	chr9:71432200-71437600	Weak transcription	Aorta	Aorta
36	chr9:71432400-71440200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:71432800-71445600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:71433000-71433200	Enhancers	Fetal Intestine Large	intestine
39	chr9:71433200-71433400	Genic enhancers	Fetal Intestine Large	intestine
40	chr9:71433200-71435800	Strong transcription	Primary B cells from cord blood	blood
41	chr9:71433200-71435800	Weak transcription	Fetal Intestine Small	intestine
42	chr9:71433400-71436400	Weak transcription	Fetal Intestine Large	intestine
43	chr9:71433400-71449000	Weak transcription	HepG2	liver
44	chr9:71434400-71443600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr9:71434600-71435600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr9:71434600-71436600	Weak transcription	K562	blood
47	chr9:71434800-71435800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:71435600-71440400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:71435800-71436200	Strong transcription	Fetal Intestine Small	intestine
50	chr9:71435800-71437600	Weak transcription	Primary B cells from cord blood	blood

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