Variant report

Variant	esv3483873
Chromosome Location	chr9:104149936-104150910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:386)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:104150026-104151413	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:104150084-104150476	K562	blood:	n/a	n/a
3	ARID3A	chr9:104150774-104151089	K562	blood:	n/a	n/a
4	BRCA1	chr9:104150514-104151103	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr9:104150811-104150848	K562	blood:	n/a	n/a
6	CEBPB	chr9:104150640-104151361	HepG2	liver:	n/a	chr9:104151211-104151222
7	CEBPB	chr9:104150678-104150932	A549	lung:	n/a	n/a
8	CTCF	chr9:104150828-104151063	LNCaP	prostate:	n/a	n/a
9	CTCF	chr9:104150776-104151141	IMR90	lung:	n/a	n/a
10	CTCF	chr9:104150900-104151050	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr9:104150864-104151000	GM13977	blood:	n/a	n/a
12	CTCF	chr9:104150736-104151083	HepG2	liver:	n/a	n/a
13	CTCF	chr9:104150140-104150290	GM12865	blood:	n/a	n/a
14	CTCF	chr9:104150087-104150437	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr9:104150077-104150518	K562	blood:	n/a	n/a
16	CTCF	chr9:104150810-104151062	Medullo	brain:	n/a	n/a
17	CTCF	chr9:104150200-104150350	HEK293	kidney:	n/a	n/a
18	CTCF	chr9:104150200-104150350	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr9:104150900-104151050	HEK293	kidney:	n/a	n/a
20	CTCF	chr9:104150173-104150384	HepG2	liver:	n/a	n/a
21	CTCF	chr9:104150817-104151032	GM12878	blood:	n/a	n/a
22	CTCF	chr9:104150130-104150337	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr9:104150220-104150370	GM12865	blood:	n/a	n/a
24	CTCF	chr9:104150070-104150452	IMR90	lung:	n/a	n/a
25	CTCF	chr9:104150820-104150970	GM12867	blood:	n/a	n/a
26	CTCF	chr9:104150180-104150330	AG04449	skin:	n/a	n/a
27	CTCF	chr9:104150200-104150350	HAc	cerebellar:	n/a	n/a
28	CTCF	chr9:104150220-104150370	GM12864	blood:	n/a	n/a
29	CTCF	chr9:104150900-104151050	GM06990	blood:	n/a	n/a
30	CTCF	chr9:104150220-104150370	BE2_C	brain:	n/a	n/a
31	CTCF	chr9:104150803-104151046	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr9:104150240-104150390	HFF	foreskin:	n/a	n/a
33	CTCF	chr9:104150900-104151050	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr9:104150860-104151010	HepG2	liver:	n/a	n/a
35	CTCF	chr9:104150120-104150270	HL-60	blood:	n/a	n/a
36	CTCF	chr9:104150800-104150950	HCM	heart:	n/a	n/a
37	CTCF	chr9:104150893-104151050	A549	lung:	n/a	n/a
38	CTCF	chr9:104150140-104150290	GM12871	blood:	n/a	n/a
39	CTCF	chr9:104150180-104150330	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr9:104150160-104150310	AG09309	skin:	n/a	n/a
41	CTCF	chr9:104150180-104150330	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr9:104150860-104151010	GM12869	blood:	n/a	n/a
43	CTCF	chr9:104150149-104150435	Gliobla	brain:	n/a	n/a
44	CTCF	chr9:104150180-104150330	GM12871	blood:	n/a	n/a
45	CTCF	chr9:104150800-104150950	HCT-116	colon:	n/a	n/a
46	CTCF	chr9:104150880-104151030	NHLF	lung:	n/a	n/a
47	CTCF	chr9:104150753-104151154	K562	blood:	n/a	n/a
48	CTCF	chr9:104150539-104150584	GM10248	blood:	n/a	n/a
49	CTCF	chr9:104150200-104150350	HMF	breast:	n/a	n/a
50	CTCF	chr9:104150900-104151050	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:104078130..104078783-chr9:104150002..104150619,2	MCF-7	breast:
2	chr9:104145330..104147001-chr9:104148819..104150528,2	MCF-7	breast:
3	chr9:104142767..104144627-chr9:104148110..104150021,2	MCF-7	breast:
4	chr9:104149633..104152570-chr9:104154465..104155982,2	K562	blood:
5	chr9:104098017..104098827-chr9:104149700..104150287,2	K562	blood:
6	chr9:104149785..104150719-chr9:104210901..104212181,4	MCF-7	breast:
7	chr9:104146547..104152154-chr9:104159060..104162261,6	K562	blood:
8	chr9:104077877..104078935-chr9:104149802..104150527,3	K562	blood:
9	chr9:104078007..104078883-chr9:104149799..104150989,4	MCF-7	breast:
10	chr9:104148610..104154266-chr9:104158623..104161916,13	K562	blood:
11	chr9:104145537..104147383-chr9:104148751..104150481,2	K562	blood:

No data

Variant related genes	Relation type
BAAT	TF binding region
ENSG00000136897	chromatin interactions
ENSG00000270982	chromatin interactions
ENSG00000136870	chromatin interactions
ENSG00000136881	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10819924	chr9:104149942-104149943	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561528667	chr9:104150024-104150025	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs201792060	chr9:104150076-104150077	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs200591877	chr9:104150077-104150078	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs530657031	chr9:104150131-104150132	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs7847420	chr9:104150137-104150138	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564148327	chr9:104150152-104150153	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs141434363	chr9:104150158-104150159	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs113977442	chr9:104150182-104150183	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs368402707	chr9:104150212-104150213	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs372672122	chr9:104150221-104150222	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs183476960	chr9:104150255-104150256	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs150386846	chr9:104150259-104150260	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs536143561	chr9:104150263-104150264	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs80091424	chr9:104150304-104150305	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs569350104	chr9:104150390-104150391	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs367639100	chr9:104150397-104150398	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs538378655	chr9:104150407-104150408	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs557980241	chr9:104150414-104150415	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs187928235	chr9:104150431-104150432	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs192405432	chr9:104150469-104150470	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs138681342	chr9:104150476-104150477	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs111957382	chr9:104150514-104150515	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs41312210	chr9:104150533-104150534	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572921516	chr9:104150572-104150573	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs183870293	chr9:104150591-104150592	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs575334945	chr9:104150616-104150617	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs544351842	chr9:104150621-104150622	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs553008466	chr9:104150643-104150644	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs564027779	chr9:104150708-104150709	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs11790161	chr9:104150729-104150730	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556035084	chr9:104150749-104150750	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs560170941	chr9:104150770-104150771	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs143388314	chr9:104150904-104150905	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104117800-104160000	Weak transcription	Pancreas	Pancrea
2	chr9:104139000-104150400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:104139000-104156600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:104139200-104150600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:104139200-104151400	Weak transcription	Osteobl	bone
6	chr9:104139400-104151600	Weak transcription	NH-A	brain
7	chr9:104142800-104151000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:104142800-104151000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:104143000-104150800	Weak transcription	HMEC	breast
10	chr9:104144600-104156600	Weak transcription	Aorta	Aorta
11	chr9:104144800-104151400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:104144800-104159800	Weak transcription	NHEK	skin
13	chr9:104145400-104150400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:104145800-104152000	Weak transcription	Brain Substantia Nigra	brain
15	chr9:104146400-104150800	Weak transcription	NHDF-Ad	bronchial
16	chr9:104146600-104150800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:104146800-104150200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:104146800-104159800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr9:104147400-104150200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:104147600-104150200	Weak transcription	Left Ventricle	heart
21	chr9:104147600-104156600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr9:104147600-104160200	Weak transcription	Gastric	stomach
23	chr9:104147800-104150200	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:104147800-104150600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:104147800-104150800	Weak transcription	Primary T cells from cord blood	blood
26	chr9:104147800-104152800	Weak transcription	Thymus	Thymus
27	chr9:104147800-104160000	Weak transcription	HSMMtube	muscle
28	chr9:104148000-104150200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:104148000-104150200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:104148000-104150200	Weak transcription	Fetal Muscle Leg	muscle
31	chr9:104148000-104150400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:104148000-104150400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr9:104148000-104150800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr9:104148000-104150800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:104148000-104151400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:104148000-104151400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr9:104148000-104152600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr9:104148000-104157600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr9:104148000-104159400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr9:104148200-104150200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr9:104148200-104150200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr9:104148200-104150200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:104148200-104150200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:104148200-104150400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr9:104148200-104150400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr9:104148200-104150400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:104148200-104150600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:104148200-104150800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr9:104148200-104150800	Weak transcription	Adipose Nuclei	Adipose
50	chr9:104148200-104151200	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links