Variant report

Variant	nsv613595
Chromosome Location	chr9:12165072-12370104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:448)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:448 , 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	chr9:12328968-12329168	HepG2	liver:	n/a	n/a
2	BACH1	chr9:12170667-12170713	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:12292536-12292567	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr9:12230772-12231081	GM12878	blood:	n/a	n/a
5	BATF	chr9:12329455-12329670	GM12878	blood:	n/a	n/a
6	BCLAF1	chr9:12329426-12329668	GM12878	blood:	n/a	n/a
7	BHLHE40	chr9:12329021-12329257	GM12878	blood:	n/a	n/a
8	BHLHE40	chr9:12328884-12329725	HepG2	liver:	n/a	n/a
9	BHLHE40	chr9:12328995-12329158	K562	blood:	n/a	n/a
10	BRCA1	chr9:12368889-12368916	GM12878	blood:	n/a	n/a
11	CEBPB	chr9:12195456-12195797	HepG2	liver:	n/a	chr9:12195611-12195622
12	CEBPB	chr9:12193945-12194181	A549	lung:	n/a	chr9:12194071-12194082 chr9:12194071-12194084
13	CEBPB	chr9:12195471-12195788	IMR90	lung:	n/a	chr9:12195611-12195622
14	CEBPB	chr9:12288039-12288167	HepG2	liver:	n/a	n/a
15	CEBPB	chr9:12367335-12367535	HepG2	liver:	n/a	chr9:12367443-12367454
16	CEBPB	chr9:12208833-12209071	HepG2	liver:	n/a	chr9:12208898-12208909 chr9:12208899-12208908 chr9:12208897-12208910
17	CEBPB	chr9:12195470-12195708	H1-hESC	embryonic stem cell:	n/a	chr9:12195611-12195622
18	CEBPB	chr9:12180768-12180970	IMR90	lung:	n/a	n/a
19	CEBPB	chr9:12195488-12195695	K562	blood:	n/a	chr9:12195611-12195622
20	CHD1	chr9:12314638-12314797	GM12878	blood:	n/a	n/a
21	CHD2	chr9:12314733-12314838	GM12878	blood:	n/a	n/a
22	CHD2	chr9:12319226-12319370	GM12878	blood:	n/a	n/a
23	CTCF	chr9:12329384-12329765	IMR90	lung:	n/a	n/a
24	CTCF	chr9:12329428-12329658	HepG2	liver:	n/a	n/a
25	CTCF	chr9:12329500-12329650	GM12865	blood:	n/a	n/a
26	CTCF	chr9:12210677-12210803	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr9:12329500-12329650	GM12866	blood:	n/a	n/a
28	CTCF	chr9:12366160-12366310	AG04450	lung:	n/a	n/a
29	CTCF	chr9:12329423-12329714	GM12878	blood:	n/a	n/a
30	CTCF	chr9:12329421-12329710	NHEK	skin:	n/a	n/a
31	CTCF	chr9:12329520-12329670	HFF-Myc	foreskin:	n/a	n/a
32	CTCF	chr9:12195600-12195750	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr9:12329421-12329698	ProgFib	skin:	n/a	n/a
34	CTCF	chr9:12329349-12329714	ECC-1	luminal epithelium:	n/a	n/a
35	CTCF	chr9:12329462-12329694	GM13976	blood:	n/a	n/a
36	CTCF	chr9:12329520-12329670	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr9:12329436-12329697	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr9:12329500-12329650	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr9:12329520-12329670	HVMF	connective:	n/a	n/a
40	CTCF	chr9:12325673-12325794	GM20000	blood:	n/a	n/a
41	CTCF	chr9:12329500-12329650	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr9:12195560-12195710	HEK293	kidney:	n/a	n/a
43	CTCF	chr9:12329353-12329696	A549	lung:	n/a	n/a
44	CTCF	chr9:12329440-12329590	NHEK	skin:	n/a	n/a
45	CTCF	chr9:12329445-12329709	MCF-7	breast:	n/a	n/a
46	CTCF	chr9:12329413-12329713	GM12892	blood:	n/a	n/a
47	CTCF	chr9:12329280-12329352	GM12892	blood:	n/a	n/a
48	CTCF	chr9:12329460-12329610	HCT-116	colon:	n/a	n/a
49	CTCF	chr9:12329480-12329630	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr9:12215488-12215552	GM13977	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:12268631..12271178-chr9:12273434..12276211,2	K562	blood:
2	chr9:12268631..12271178-chr9:12273434..12276211,2	K562	blood:
3	chr16:89002000..89004763-chr9:12244429..12246932,2	MCF-7	breast:
4	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:
5	chr9:10365979..10366914-chr9:12329143..12329893,2	MCF-7	breast:
6	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:
7	chr9:10855828..10856443-chr9:12329128..12329639,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TYRP1-4	chr9:12287320-12288238	NONHSAT130222

No data

Variant related genes	Relation type
ENSG00000231491	TF binding region
RNU2-47P	TF binding region
ENSG00000261226	chromatin interactions

Extended variants
information (count: 3375 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3375 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10960502	chr9:12165072-12165073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62536620	chr9:12165106-12165107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562458867	chr9:12165138-12165139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7024240	chr9:12165146-12165147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547822804	chr9:12165197-12165198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567813273	chr9:12165199-12165200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10960503	chr9:12165200-12165201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189168493	chr9:12165238-12165239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570568878	chr9:12165259-12165260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7024392	chr9:12165298-12165299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148887332	chr9:12165303-12165304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113474881	chr9:12165317-12165318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575667459	chr9:12165319-12165320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376292356	chr9:12165325-12165326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555046272	chr9:12165337-12165338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113213722	chr9:12165340-12165341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142679661	chr9:12165358-12165359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554317471	chr9:12165383-12165384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577371254	chr9:12165402-12165403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546438647	chr9:12165440-12165441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150334219	chr9:12165494-12165495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71330699	chr9:12165496-12165497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529095364	chr9:12165565-12165566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563032483	chr9:12165572-12165573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531930347	chr9:12165592-12165593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541404345	chr9:12165599-12165600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561381799	chr9:12165600-12165601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7024763	chr9:12165608-12165609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373787025	chr9:12165625-12165626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76069022	chr9:12165634-12165635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558828920	chr9:12165635-12165636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147440486	chr9:12165636-12165637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192715009	chr9:12165645-12165646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569960190	chr9:12165682-12165683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184181515	chr9:12165687-12165688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554970986	chr9:12165698-12165699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565788328	chr9:12165708-12165709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7025259	chr9:12165758-12165759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189898761	chr9:12165775-12165776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs791780	chr9:12165791-12165792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546078987	chr9:12165803-12165804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10809706	chr9:12165806-12165807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576312960	chr9:12165814-12165815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181214471	chr9:12165831-12165832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561319126	chr9:12165850-12165851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527291060	chr9:12165859-12165860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57483691	chr9:12165866-12165867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139744425	chr9:12165876-12165877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369296325	chr9:12165878-12165879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79536892	chr9:12165889-12165890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12161400-12167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:12162800-12166400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:12162800-12166600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:12164200-12166200	Weak transcription	Fetal Brain Female	brain
5	chr9:12165800-12166400	Enhancers	Brain Substantia Nigra	brain
6	chr9:12166200-12166400	Enhancers	Fetal Brain Female	brain
7	chr9:12166400-12167000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:12166600-12167000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:12191600-12192000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr9:12191600-12192000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:12191800-12192000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:12192000-12200800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:12200400-12200600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:12200400-12200800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:12200400-12202000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr9:12200600-12201000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr9:12200800-12201200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:12201200-12204400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:12204400-12204800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:12212600-12213000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:12212600-12213600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:12212800-12214000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:12213000-12213400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:12213000-12213800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr9:12213400-12214200	Enhancers	Brain Germinal Matrix	brain
26	chr9:12213400-12214400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:12213800-12214200	Enhancers	Brain Hippocampus Middle	brain
28	chr9:12221800-12222000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:12222000-12224400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:12224200-12224600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr9:12224200-12225000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr9:12224200-12225000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:12224400-12224800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr9:12224400-12224800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:12231000-12231400	Enhancers	Liver	Liver
36	chr9:12231200-12231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:12231400-12233400	Weak transcription	Liver	Liver
38	chr9:12231600-12232000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:12233400-12233800	Enhancers	Liver	Liver
40	chr9:12235200-12235600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:12241200-12242000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr9:12241400-12243200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr9:12241600-12242000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:12241600-12242000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr9:12241600-12242000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr9:12241600-12242000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr9:12241600-12242000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr9:12242600-12242800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
49	chr9:12260800-12261200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:12271200-12271600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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