Variant report

Variant	nsv614598
Chromosome Location	chr9:73193371-73218656
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	chr9:73217429-73217695	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:73217378-73217685	K562	blood:	n/a	n/a
3	BHLHE40	chr9:73217351-73217636	K562	blood:	n/a	n/a
4	BHLHE40	chr9:73202411-73202445	K562	blood:	n/a	n/a
5	BHLHE40	chr9:73215987-73216302	K562	blood:	n/a	n/a
6	BRCA1	chr9:73217428-73217711	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr9:73217445-73217617	K562	blood:	n/a	n/a
8	CEBPB	chr9:73204470-73205681	IMR90	lung:	n/a	chr9:73204914-73204925
9	CEBPB	chr9:73198933-73199025	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr9:73204769-73205072	HepG2	liver:	n/a	chr9:73204914-73204925
11	CEBPB	chr9:73217371-73217706	K562	blood:	n/a	n/a
12	CEBPB	chr9:73217334-73217792	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr9:73217316-73217685	IMR90	lung:	n/a	n/a
14	CEBPB	chr9:73215244-73216702	IMR90	lung:	n/a	n/a
15	CEBPB	chr9:73217330-73217747	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr9:73217393-73217695	A549	lung:	n/a	n/a
17	CEBPB	chr9:73209431-73209745	IMR90	lung:	n/a	chr9:73209594-73209605
18	CTCF	chr9:73217540-73217690	BE2_C	brain:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
19	CTCF	chr9:73217500-73217650	HAc	cerebellar:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
20	CTCF	chr9:73217386-73217749	Spleen_OC	spleen:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
21	CTCF	chr9:73193771-73193903	MCF-7	breast:	n/a	n/a
22	CTCF	chr9:73217460-73217610	BE2_C	brain:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
23	CTCF	chr9:73217460-73217610	GM12871	blood:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
24	CTCF	chr9:73216700-73216850	HPF	lung:	n/a	n/a
25	CTCF	chr9:73217480-73217630	HRE	kidney:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
26	CTCF	chr9:73217460-73217610	HepG2	liver:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
27	CTCF	chr9:73193760-73193910	K562	blood:	n/a	n/a
28	CTCF	chr9:73193820-73193970	A549	lung:	n/a	n/a
29	CTCF	chr9:73217480-73217630	HEEpiC	esophagus:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
30	CTCF	chr9:73217376-73217698	T-47D	breast:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
31	CTCF	chr9:73193760-73193910	GM12878	blood:	n/a	n/a
32	CTCF	chr9:73217480-73217630	Caco-2	colon:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
33	CTCF	chr9:73217480-73217630	AG10803	skin:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
34	CTCF	chr9:73217460-73217610	RPTEC	kidney:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
35	CTCF	chr9:73193775-73193911	GM13977	blood:	n/a	n/a
36	CTCF	chr9:73217202-73217798	HCT-116	colon:	n/a	chr9:73217782-73217790 chr9:73217551-73217569 chr9:73217753-73217766 chr9:73217546-73217567 chr9:73217751-73217769
37	CTCF	chr9:73217800-73217950	AG10803	skin:	n/a	n/a
38	CTCF	chr9:73217460-73217610	AG09309	skin:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
39	CTCF	chr9:73215420-73215570	AG04450	lung:	n/a	n/a
40	CTCF	chr9:73217480-73217630	GM12873	blood:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
41	CTCF	chr9:73215920-73216070	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr9:73217329-73217672	T-47D	breast:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
43	CTCF	chr9:73218467-73218605	Lung_OC	lung:	n/a	n/a
44	CTCF	chr9:73216640-73216790	AG10803	skin:	n/a	n/a
45	CTCF	chr9:73217427-73217666	NHEK	skin:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
46	CTCF	chr9:73217380-73217744	HepG2	liver:	n/a	chr9:73217551-73217569 chr9:73217546-73217567
47	CTCF	chr9:73193780-73193930	HCT-116	colon:	n/a	n/a
48	CTCF	chr9:73215560-73215710	HCFaa	heart:	n/a	n/a
49	CTCF	chr9:73215560-73215710	AG04449	skin:	n/a	n/a
50	CTCF	chr9:73193740-73193890	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:72967533..72968221-chr9:73217175..73217782,2	MCF-7	breast:
2	chr9:73192089..73194618-chr9:73196288..73198776,2	K562	blood:
3	chr9:72967818..72968323-chr9:73217093..73217846,2	MCF-7	breast:
4	chr9:73028203..73029988-chr9:73203454..73205453,2	MCF-7	breast:
5	chr9:73026505..73029388-chr9:73191252..73194119,2	MCF-7	breast:
6	chr9:73197794..73199426-chr9:73200982..73203478,2	K562	blood:
7	chr9:73144827..73147733-chr9:73196427..73198167,2	MCF-7	breast:
8	chr9:72978429..72981216-chr9:73204901..73207733,2	MCF-7	breast:
9	chr9:73207124..73209818-chr9:73212763..73214448,2	K562	blood:
10	chr9:73033647..73036708-chr9:73216290..73219440,5	MCF-7	breast:
11	chr9:73036403..73038506-chr9:73197220..73199887,2	MCF-7	breast:
12	chr9:72955339..72956157-chr9:73216775..73218041,5	K562	blood:
13	chr9:73027361..73029431-chr9:73215133..73217695,2	MCF-7	breast:
14	chr9:73197703..73200257-chr9:73201325..73204696,3	MCF-7	breast:
15	chr9:73027993..73028866-chr9:73216974..73217674,2	MCF-7	breast:
16	chr9:73216054..73218169-chr9:73220348..73222412,2	MCF-7	breast:
17	chr9:73207124..73209818-chr9:73212763..73214448,2	K562	blood:
18	chr9:73026175..73028721-chr9:73217630..73219674,2	K562	blood:
19	chr9:73027266..73029543-chr9:73214083..73216680,3	MCF-7	breast:
20	chr9:73035197..73037230-chr9:73214019..73215600,2	K562	blood:
21	chr9:73197703..73200257-chr9:73201325..73204696,3	MCF-7	breast:
22	chr9:73197794..73199426-chr9:73200982..73203478,2	K562	blood:
23	chr9:72955484..72956149-chr9:73217043..73217606,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMC5-9	chr9:73216899-73217010	NONHSAT131818
2	lnc-SMC5-9	chr9:73218282-73218592	NONHSAT131818

Variant related genes	Relation type
ENSG00000272232	TF binding region
ENSG00000272232	chromatin interactions
ENSG00000119138	chromatin interactions

Extended variants
information (count: 941 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:941 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10868854	chr9:73193371-73193372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10780950	chr9:73193428-73193429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538537178	chr9:73193429-73193430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370531409	chr9:73193452-73193453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17055326	chr9:73193462-73193463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570500648	chr9:73193479-73193480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533188842	chr9:73193516-73193517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10780951	chr9:73193537-73193538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs13301601	chr9:73193553-73193554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536184537	chr9:73193562-73193563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536353447	chr9:73193563-73193564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375532552	chr9:73193567-73193568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180962857	chr9:73193580-73193581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114685440	chr9:73193585-73193586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564865992	chr9:73193669-73193670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370385735	chr9:73193670-73193671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541188813	chr9:73193692-73193693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571938063	chr9:73193717-73193718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142767837	chr9:73193749-73193750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529748410	chr9:73193811-73193812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537128157	chr9:73193839-73193840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563264696	chr9:73193840-73193841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530554353	chr9:73193847-73193848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550472286	chr9:73193886-73193887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571940937	chr9:73193897-73193898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557108118	chr9:73193908-73193909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185609946	chr9:73193909-73193910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547927271	chr9:73193913-73193914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566143289	chr9:73193923-73193924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536745906	chr9:73193982-73193983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150697149	chr9:73194002-73194003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576008288	chr9:73194003-73194004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367935572	chr9:73194018-73194019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558544519	chr9:73194079-73194080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149000465	chr9:73194092-73194093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577026390	chr9:73194097-73194098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371702643	chr9:73194103-73194104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116408194	chr9:73194121-73194122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141007269	chr9:73194166-73194167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541931975	chr9:73194235-73194236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563398908	chr9:73194247-73194248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190529312	chr9:73194281-73194282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545779095	chr9:73194297-73194298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376661212	chr9:73194308-73194309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59333800	chr9:73194338-73194339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532793230	chr9:73194346-73194347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181813039	chr9:73194349-73194350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186281468	chr9:73194350-73194351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190652163	chr9:73194363-73194364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541793029	chr9:73194368-73194369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20435627	CNVD
Melanoma	22183965	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
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
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73157800-73199800	Weak transcription	Aorta	Aorta
2	chr9:73187000-73193600	Weak transcription	Fetal Intestine Large	intestine
3	chr9:73188400-73195600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:73189000-73193400	Weak transcription	Pancreas	Pancrea
5	chr9:73189200-73194000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:73189600-73213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:73190400-73195600	Weak transcription	Brain Substantia Nigra	brain
8	chr9:73191400-73195400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:73191800-73198400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:73192000-73193400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:73192000-73193800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:73192400-73193400	Weak transcription	Right Ventricle	heart
13	chr9:73192400-73194200	Weak transcription	Right Atrium	heart
14	chr9:73192400-73199800	Weak transcription	Left Ventricle	heart
15	chr9:73192600-73195200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:73192600-73201200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:73192600-73202200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:73192800-73195400	Weak transcription	HMEC	breast
19	chr9:73192800-73201000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:73193000-73195200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr9:73193000-73196000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:73193000-73196000	Weak transcription	HUVEC	blood vessel
23	chr9:73193000-73196400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:73193000-73196400	Weak transcription	NHDF-Ad	bronchial
25	chr9:73193000-73201200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:73193000-73201200	Weak transcription	NHLF	lung
27	chr9:73193200-73193600	Enhancers	Fetal Intestine Small	intestine
28	chr9:73193200-73195200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr9:73193200-73198600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:73193200-73200200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:73193400-73193600	Enhancers	Pancreas	Pancrea
32	chr9:73193400-73194000	Enhancers	Right Ventricle	heart
33	chr9:73193400-73196200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:73193600-73193800	Enhancers	Fetal Intestine Large	intestine
35	chr9:73193800-73201200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:73194000-73196400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:73194000-73200200	Weak transcription	Right Ventricle	heart
38	chr9:73194200-73195000	Enhancers	Right Atrium	heart
39	chr9:73194600-73195000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:73194800-73195400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr9:73195000-73200200	Weak transcription	Right Atrium	heart
42	chr9:73195200-73196600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:73195200-73196600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr9:73195200-73196800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr9:73195400-73195800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr9:73195400-73196400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:73195400-73196400	Enhancers	HMEC	breast
48	chr9:73195400-73196800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr9:73195400-73196800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr9:73195600-73196400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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