Variant report

Variant	esv3413112
Chromosome Location	chr1:103318389-103320937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:103318240-103318390	A549	lung:	n/a	n/a
2	CTCF	chr1:103318260-103318410	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr1:103318240-103318390	AG04450	lung:	n/a	n/a
4	CTCF	chr1:103318260-103318410	BE2_C	brain:	n/a	n/a
5	CTCF	chr1:103318240-103318390	NHDF-neo	bronchial:	n/a	n/a
6	CTCF	chr1:103318198-103318410	MCF-7	breast:	n/a	n/a
7	CTCF	chr1:103318240-103318390	AG09309	skin:	n/a	n/a
8	CTCF	chr1:103318240-103318390	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr1:103318165-103318425	IMR90	lung:	n/a	n/a
10	CTCF	chr1:103318460-103318610	AG10803	skin:	n/a	n/a
11	CTCF	chr1:103318130-103318452	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:103318240-103318390	HFF	foreskin:	n/a	n/a
13	CTCF	chr1:103318260-103318410	AG04449	skin:	n/a	n/a
14	CTCF	chr1:103318240-103318390	AG09319	gingival:	n/a	n/a
15	CTCF	chr1:103318260-103318410	HMF	breast:	n/a	n/a
16	CTCF	chr1:103318260-103318410	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr1:103318205-103318402	Fibrobl	skin:	n/a	n/a
18	CTCF	chr1:103318300-103318450	BJ	skin:	n/a	n/a
19	CTCF	chr1:103318212-103318391	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:103318209-103318412	ProgFib	skin:	n/a	n/a
21	CTCF	chr1:103318240-103318390	NHLF	lung:	n/a	n/a
22	NFYB	chr1:103319761-103320189	GM12878	blood:	n/a	n/a
23	NFYB	chr1:103319755-103320107	K562	blood:	n/a	n/a
24	RAD21	chr1:103318099-103318496	SK-N-SH_RA	brain:	n/a	n/a
25	RAD21	chr1:103318129-103318468	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr1:103318129-103318532	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr1:103318161-103318451	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr1:103318091-103318445	MCF-7	breast:	n/a	n/a
29	RAD21	chr1:103318175-103318412	SK-N-SH_RA	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:103319495-103319545	NH-A	brain:	n/a
2	chr1:103319495-103319545	HRCEpiC	kidney:	n/a
3	chr1:103319677-103319727	AG09319	gingival:	n/a
4	chr1:103319677-103319727	AG04450	lung:	fetal
5	chr1:103319495-103319545	AG09309	skin:	n/a
6	chr1:103319677-103319727	PANC-1	pancreas:	n/a
7	chr1:103319677-103319727	IMR90	lung:	fetal
8	chr1:103319677-103319727	HEK293	kidney:	embryo
9	chr1:103319677-103319727	HCF	heart:	n/a
10	chr1:103319677-103319727	U87	brain:	n/a
11	chr1:103319677-103319727	HL-60	blood:	n/a
12	chr1:103319677-103319727	HCT-116	colon:	n/a
13	chr1:103319495-103319545	PrEC	prostate:	n/a
14	chr1:103319677-103319727	ovcar-3	ovarian:	n/a
15	chr1:103319677-103319727	GM19239	blood:	n/a
16	chr1:103319677-103319727	AoSMC	blood vessel:	n/a
17	chr1:103319495-103319545	HEK293	kidney:	embryo
18	chr1:103319677-103319727	T-47D	breast:	n/a
19	chr1:103319677-103319727	HCPEpiC	choroid plexus:	n/a
20	chr1:103319677-103319727	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:103319677-103319727	HRE	kidney:	n/a
22	chr1:103319495-103319545	HNPCEpiC	eye:	n/a
23	chr1:103319495-103319545	HL-60	blood:	n/a
24	chr1:103319677-103319727	SK-N-SH	brain:	n/a
25	chr1:103319677-103319727	NT2-D1	testis:	n/a
26	chr1:103319677-103319727	HUVEC	blood vessel:	n/a
27	chr1:103319677-103319727	HIPEpiC	eye:	n/a
28	chr1:103319495-103319545	MCF-7	breast:	n/a
29	chr1:103319677-103319727	ProgFib	skin:	n/a
30	chr1:103319495-103319545	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:103319495-103319545	SK-N-SH_RA	brain:	n/a
32	chr1:103319495-103319545	NT2-D1	testis:	n/a
33	chr1:103319495-103319545	AG04449	skin:	fetal
34	chr1:103319495-103319545	AG09319	gingival:	n/a
35	chr1:103319495-103319545	HCF	heart:	n/a
36	chr1:103319495-103319545	AoSMC	blood vessel:	n/a
37	chr1:103319677-103319727	AG04449	skin:	fetal
38	chr1:103319495-103319545	SK-N-MC	brain:	n/a
39	chr1:103319677-103319727	H1-hESC	embryonic stem cell:	embryo
40	chr1:103319495-103319545	Jurkat	blood:	n/a
41	chr1:103319677-103319727	GM06990	blood:	n/a
42	chr1:103319495-103319545	HRPEpiC	eye:	n/a
43	chr1:103319495-103319545	NHDF-neo	bronchial:	n/a
44	chr1:103319677-103319727	AG09309	skin:	n/a
45	chr1:103319677-103319727	HepG2	liver:	n/a
46	chr1:103319495-103319545	HMEC	breast:	n/a
47	chr1:103319495-103319545	LNCaP	prostate:	n/a
48	chr1:103319495-103319545	U87	brain:	n/a
49	chr1:103319677-103319727	CMK	blood:	n/a
50	chr1:103319495-103319545	GM12892	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000230864	TF binding region
ENSG00000230864	CpG island

Extended variants
information (count: 135 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80142143	chr1:103318392-103318393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533337966	chr1:103318398-103318399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376797105	chr1:103318409-103318410	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs369953591	chr1:103318417-103318418	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545421105	chr1:103318502-103318503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145939207	chr1:103318507-103318508	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs899020	chr1:103318581-103318582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs147199758	chr1:103318599-103318600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549704537	chr1:103318611-103318612	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568274688	chr1:103318613-103318614	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs113426510	chr1:103318636-103318637	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs547253347	chr1:103318648-103318649	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565641432	chr1:103318665-103318666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539007349	chr1:103318687-103318688	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551002771	chr1:103318716-103318717	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569648797	chr1:103318736-103318737	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537180978	chr1:103318771-103318772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs72683227	chr1:103318778-103318779	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143227638	chr1:103318794-103318795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369379254	chr1:103318801-103318802	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191399941	chr1:103318820-103318821	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553654222	chr1:103318823-103318824	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs145353597	chr1:103318827-103318828	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs372962499	chr1:103318884-103318885	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs4348745	chr1:103318902-103318903	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4348746	chr1:103318914-103318915	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs34537165	chr1:103318921-103318922	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs397808670	chr1:103318939-103318940	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs545408641	chr1:103318952-103318953	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2376259	chr1:103318973-103318974	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575627255	chr1:103319067-103319068	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs543140967	chr1:103319102-103319103	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148763556	chr1:103319138-103319139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs529025090	chr1:103319154-103319155	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs184099031	chr1:103319155-103319156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547200238	chr1:103319192-103319193	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559214352	chr1:103319201-103319202	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533103486	chr1:103319210-103319211	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550941047	chr1:103319250-103319251	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2708394	chr1:103319270-103319271	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2708395	chr1:103319288-103319289	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372672227	chr1:103319302-103319303	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116726891	chr1:103319304-103319305	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376898336	chr1:103319335-103319336	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs899019	chr1:103319338-103319339	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548641646	chr1:103319356-103319357	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578248709	chr1:103319390-103319391	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539366896	chr1:103319392-103319393	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557061653	chr1:103319426-103319427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375909318	chr1:103319432-103319433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103311200-103319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103316400-103319400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:103316600-103318400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:103316600-103319400	Enhancers	Fetal Muscle Leg	muscle
5	chr1:103317000-103318400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:103317000-103318400	Enhancers	Osteobl	bone
7	chr1:103317000-103318600	Enhancers	HSMMtube	muscle
8	chr1:103317400-103318800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:103317800-103318400	Enhancers	Placenta	Placenta
10	chr1:103317800-103319200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:103317800-103319400	Enhancers	Brain Germinal Matrix	brain
12	chr1:103317800-103321800	Weak transcription	NHDF-Ad	bronchial
13	chr1:103318000-103319000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:103318000-103319200	Enhancers	Fetal Stomach	stomach
15	chr1:103318200-103318400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:103318200-103318600	Enhancers	Adipose Nuclei	Adipose
17	chr1:103318200-103319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:103318200-103319200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:103318200-103320800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:103318400-103318800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:103318400-103324000	Weak transcription	Osteobl	bone
22	chr1:103318400-103324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:103318800-103319000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:103319000-103319200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:103319000-103319400	Enhancers	Fetal Brain Male	brain
26	chr1:103319000-103319400	Enhancers	Fetal Muscle Trunk	muscle
27	chr1:103319200-103320600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:103319400-103319800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:103320600-103320800	Enhancers	Fetal Intestine Large	intestine
30	chr1:103320600-103324000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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