Variant report

Variant	nsv982338
Chromosome Location	chr9:115868388-115874153
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	BATF	chr9:115873657-115873969	GM12878	blood:	n/a	n/a
2	CBX3	chr9:115873150-115874076	K562	blood:	n/a	n/a
3	CTCF	chr9:115873960-115874110	HCM	heart:	n/a	n/a
4	CTCF	chr9:115872495-115872602	GM12891	blood:	n/a	chr9:115872522-115872531 chr9:115872519-115872537 chr9:115872522-115872535
5	CTCF	chr9:115874080-115874230	AG04449	skin:	n/a	n/a
6	CTCF	chr9:115873960-115874110	GM12870	blood:	n/a	n/a
7	CTCF	chr9:115873699-115874047	GM10248	blood:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
8	CTCF	chr9:115873960-115874110	GM12871	blood:	n/a	n/a
9	CTCF	chr9:115873960-115874110	GM12866	blood:	n/a	n/a
10	CTCF	chr9:115873960-115874110	RPTEC	kidney:	n/a	n/a
11	CTCF	chr9:115873960-115874110	GM12867	blood:	n/a	n/a
12	CTCF	chr9:115873528-115874169	A549	lung:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
13	CTCF	chr9:115873472-115874029	GM19240	blood:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
14	CTCF	chr9:115873960-115874110	MCF-7	breast:	n/a	n/a
15	CTCF	chr9:115873435-115873469	GM19240	blood:	n/a	n/a
16	CTCF	chr9:115873676-115874059	Medullo	brain:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
17	CTCF	chr9:115873940-115874090	HMF	breast:	n/a	n/a
18	CTCF	chr9:115873354-115873414	GM12891	blood:	n/a	n/a
19	CTCF	chr9:115873706-115873974	Gliobla	brain:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
20	CTCF	chr9:115872415-115872611	MCF-7	breast:	n/a	chr9:115872522-115872531 chr9:115872519-115872537 chr9:115872522-115872535
21	CTCF	chr9:115873700-115874010	ProgFib	skin:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
22	CTCF	chr9:115872492-115872608	GM19240	blood:	n/a	chr9:115872522-115872531 chr9:115872519-115872537 chr9:115872522-115872535
23	CTCF	chr9:115873960-115874110	GM12872	blood:	n/a	n/a
24	CTCF	chr9:115873920-115874070	GM12875	blood:	n/a	n/a
25	CTCF	chr9:115873708-115874047	LNCaP	prostate:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
26	CTCF	chr9:115873865-115874104	T-47D	breast:	n/a	n/a
27	CTCF	chr9:115872496-115872581	MCF-7	breast:	n/a	chr9:115872522-115872531 chr9:115872519-115872537 chr9:115872522-115872535
28	CTCF	chr9:115873891-115873996	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr9:115873960-115874110	WI-38	lung:	n/a	n/a
30	CTCF	chr9:115873866-115874267	MCF-7	breast:	n/a	n/a
31	CTCF	chr9:115873700-115874001	A549	lung:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
32	CTCF	chr9:115872519-115872594	H1-hESC	embryonic stem cell:	n/a	chr9:115872522-115872531 chr9:115872519-115872537 chr9:115872522-115872535
33	CTCF	chr9:115873960-115874110	GM12869	blood:	n/a	n/a
34	CTCF	chr9:115873940-115874090	GM12873	blood:	n/a	n/a
35	CTCF	chr9:115873960-115874110	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr9:115873940-115874090	NHLF	lung:	n/a	n/a
37	CTCF	chr9:115873660-115874053	GM12878	blood:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
38	CTCF	chr9:115873885-115874056	HepG2	liver:	n/a	n/a
39	CTCF	chr9:115873920-115874070	HCT-116	colon:	n/a	n/a
40	CTCF	chr9:115873540-115874027	GM19238	blood:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
41	CTCF	chr9:115872463-115872615	HepG2	liver:	n/a	chr9:115872522-115872531 chr9:115872519-115872537 chr9:115872522-115872535
42	CTCF	chr9:115873650-115874028	GM12892	blood:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
43	CTCF	chr9:115873960-115874110	HAc	cerebellar:	n/a	n/a
44	CTCF	chr9:115873880-115874030	GM12869	blood:	n/a	n/a
45	CTCF	chr9:115873860-115874010	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr9:115873960-115874110	AG04450	lung:	n/a	n/a
47	CTCF	chr9:115873920-115874070	GM12865	blood:	n/a	n/a
48	CTCF	chr9:115874147-115874263	GM19240	blood:	n/a	n/a
49	CTCF	chr9:115873850-115874104	HepG2	liver:	n/a	n/a
50	CTCF	chr9:115873960-115874110	AG10803	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:115874001-115874051	HEEpiC	esophagus:	n/a
2	chr9:115874001-115874051	H1-hESC	embryonic stem cell:	embryo
3	chr9:115874001-115874051	SK-N-MC	brain:	n/a
4	chr9:115874001-115874051	NH-A	brain:	n/a
5	chr9:115874001-115874051	PANC-1	pancreas:	n/a
6	chr9:115874001-115874051	SKMC	muscle:	n/a
7	chr9:115874001-115874051	HCM	heart:	n/a
8	chr9:115874001-115874051	K562	blood:	n/a
9	chr9:115874001-115874051	AG10803	skin:	n/a
10	chr9:115874001-115874051	NHDF-neo	bronchial:	n/a
11	chr9:115874001-115874051	GM12891	blood:	n/a
12	chr9:115874001-115874051	HL-60	blood:	n/a
13	chr9:115874001-115874051	ProgFib	skin:	n/a
14	chr9:115874001-115874051	BE2_C	brain:	n/a
15	chr9:115874001-115874051	HIPEpiC	eye:	n/a
16	chr9:115874001-115874051	GM12878	blood:	n/a
17	chr9:115874001-115874051	LNCaP	prostate:	n/a
18	chr9:115874001-115874051	HCT-116	colon:	n/a
19	chr9:115874001-115874051	PrEC	prostate:	n/a
20	chr9:115874001-115874051	ECC-1	luminal epithelium:	n/a
21	chr9:115874001-115874051	HMEC	breast:	n/a
22	chr9:115874001-115874051	CMK	blood:	n/a
23	chr9:115874001-115874051	PFSK-1	brain:	n/a
24	chr9:115874001-115874051	NHBE	bronchial:	n/a
25	chr9:115874001-115874051	SK-N-SH	brain:	n/a
26	chr9:115874001-115874051	MCF-7	breast:	n/a
27	chr9:115874001-115874051	SK-N-SH_RA	brain:	n/a
28	chr9:115874001-115874051	HAEpiC	amniotic membrane:	n/a
29	chr9:115874001-115874051	HRPEpiC	eye:	n/a
30	chr9:115874001-115874051	HPAEpiC	pulmonary alveolar:	n/a
31	chr9:115874001-115874051	AoSMC	blood vessel:	n/a
32	chr9:115874001-115874051	Jurkat	blood:	n/a
33	chr9:115874001-115874051	HRE	kidney:	n/a
34	chr9:115874001-115874051	BJ	skin:	n/a
35	chr9:115874001-115874051	HNPCEpiC	eye:	n/a
36	chr9:115874001-115874051	HCF	heart:	n/a
37	chr9:115874001-115874051	HRCEpiC	kidney:	n/a
38	chr9:115874001-115874051	U87	brain:	n/a
39	chr9:115874001-115874051	GM06990	blood:	n/a
40	chr9:115874001-115874051	Hela-S3	cervix:	n/a
41	chr9:115874001-115874051	ovcar-3	ovarian:	n/a
42	chr9:115874001-115874051	GM19239	blood:	n/a
43	chr9:115874001-115874051	NT2-D1	testis:	n/a
44	chr9:115874001-115874051	AG04449	skin:	fetal
45	chr9:115874001-115874051	HCPEpiC	choroid plexus:	n/a
46	chr9:115874001-115874051	AG04450	lung:	fetal
47	chr9:115874001-115874051	NB4	blood:	n/a
48	chr9:115874001-115874051	HepG2	liver:	n/a
49	chr9:115874001-115874051	A549	lung:	n/a
50	chr9:115874001-115874051	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115872624..115875532-chr9:115912017..115913734,2	MCF-7	breast:
2	chr9:115687009..115687855-chr9:115874049..115874602,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP37-2	chr9:115873190-115873296	NONHSAT134034
2	lnc-ZFP37-2	chr9:115867003-115872433	NONHSAT134034
3	lnc-ZFP37-2	chr9:115867003-115872433	ENSG00000225684
4	lnc-ZFP37-2	chr9:115873690-115873957	NONHSAT134034
5	lnc-ZFP37-2	chr9:115873190-115873296	ENSG00000225684
6	lnc-ZFP37-2	chr9:115873190-115873753	ENSG00000225684
7	lnc-ZFP37-2	chr9:115873690-115873780	ENSG00000225684
8	lnc-ZFP37-2	chr9:115865618-115872433	ENSG00000225684

Variant related genes	Relation type
FAM225B	TF binding region
FAM225A	TF binding region
FAM225B	CpG island
FAM225A	CpG island
ENSG00000136867	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200740989	chr9:115868654-115868655	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs372666712	chr9:115868940-115868941	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs199746738	chr9:115869513-115869514	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs201733596	chr9:115871089-115871090	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs551719605	chr9:115871578-115871579	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs201905251	chr9:115872356-115872357	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs62574456	chr9:115872875-115872876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199898662	chr9:115872929-115872930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187056596	chr9:115873000-115873001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201992804	chr9:115873402-115873403	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs565247131	chr9:115873689-115873690	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs530990393	chr9:115873775-115873776	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs550793597	chr9:115873811-115873812	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs11506773	chr9:115873850-115873851	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573418351	chr9:115873878-115873879	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs80016582	chr9:115873890-115873891	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs565945583	chr9:115873971-115873972	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs534331455	chr9:115873984-115873985	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs75660220	chr9:115874044-115874045	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs112620196	chr9:115874093-115874094	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs557688981	chr9:115874120-115874121	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115861600-115874000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:115867400-115874000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:115867600-115874000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:115873800-115874000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:115873800-115874000	Active TSS	Adipose Nuclei	Adipose
6	chr9:115873800-115874000	Enhancers	Osteobl	bone
7	chr9:115874000-115874200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr9:115874000-115874200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:115874000-115874200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
10	chr9:115874000-115874200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
11	chr9:115874000-115874200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr9:115874000-115874200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr9:115874000-115874200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr9:115874000-115874200	Enhancers	Brain Cingulate Gyrus	brain
15	chr9:115874000-115874200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:115874000-115874200	Enhancers	Brain Substantia Nigra	brain
17	chr9:115874000-115874200	Enhancers	Placenta	Placenta
18	chr9:115874000-115874400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:115874000-115874400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:115874000-115874400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr9:115874000-115874400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:115874000-115874400	Enhancers	Brain Anterior Caudate	brain
23	chr9:115874000-115874400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr9:115874000-115874400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr9:115874000-115874400	Active TSS	HSMMtube	muscle
26	chr9:115874000-115874400	Active TSS	NH-A	brain
27	chr9:115874000-115874400	Flanking Active TSS	Osteobl	bone
28	chr9:115874000-115874600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr9:115874000-115874600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:115874000-115874600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr9:115874000-115874600	Enhancers	Spleen	Spleen
32	chr9:115874000-115875000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr9:115874000-115875000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:115874000-115875000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr9:115874000-115875000	Enhancers	NHEK	skin
36	chr9:115874000-115875200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:115874000-115875200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr9:115874000-115875200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr9:115874000-115875200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:115874000-115875200	Enhancers	Brain Hippocampus Middle	brain
41	chr9:115874000-115875200	Enhancers	HMEC	breast
42	chr9:115874000-115875200	Enhancers	HSMM	muscle

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