Variant report

Variant	esv3407503
Chromosome Location	chr3:134244812-134247610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:186)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:186 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:134246121-134246150	HepG2	liver:	n/a	n/a
2	BRCA1	chr3:134246053-134246110	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr3:134246038-134246165	HepG2	liver:	n/a	n/a
4	CTCF	chr3:134246000-134246150	GM12874	blood:	n/a	n/a
5	CTCF	chr3:134245474-134245483	GM10266	blood:	n/a	n/a
6	CTCF	chr3:134245899-134246262	K562	blood:	n/a	n/a
7	CTCF	chr3:134246040-134246190	GM12866	blood:	n/a	n/a
8	CTCF	chr3:134246040-134246190	HL-60	blood:	n/a	n/a
9	CTCF	chr3:134246000-134246150	HCFaa	heart:	n/a	n/a
10	CTCF	chr3:134246000-134246150	HMF	breast:	n/a	n/a
11	CTCF	chr3:134246020-134246170	NHEK	skin:	n/a	n/a
12	CTCF	chr3:134246000-134246150	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr3:134246040-134246190	BE2_C	brain:	n/a	n/a
14	CTCF	chr3:134245980-134246130	RPTEC	kidney:	n/a	n/a
15	CTCF	chr3:134246980-134247130	HRE	kidney:	n/a	n/a
16	CTCF	chr3:134246100-134246250	WI-38	lung:	n/a	n/a
17	CTCF	chr3:134246000-134246150	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chr3:134245991-134246179	Medullo	brain:	n/a	n/a
19	CTCF	chr3:134246020-134246170	GM12870	blood:	n/a	n/a
20	CTCF	chr3:134245970-134246161	HepG2	liver:	n/a	n/a
21	CTCF	chr3:134246000-134246150	BJ	skin:	n/a	n/a
22	CTCF	chr3:134246020-134246170	GM12869	blood:	n/a	n/a
23	CTCF	chr3:134245942-134246198	GM19239	blood:	n/a	n/a
24	CTCF	chr3:134246000-134246150	A549	lung:	n/a	n/a
25	CTCF	chr3:134246000-134246150	AG09309	skin:	n/a	n/a
26	CTCF	chr3:134245940-134246090	NHEK	skin:	n/a	n/a
27	CTCF	chr3:134246000-134246150	NB4	blood:	n/a	n/a
28	CTCF	chr3:134245940-134246090	GM12867	blood:	n/a	n/a
29	CTCF	chr3:134246040-134246190	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr3:134246040-134246190	HVMF	connective:	n/a	n/a
31	CTCF	chr3:134245936-134246222	Gliobla	brain:	n/a	n/a
32	CTCF	chr3:134245912-134246251	IMR90	lung:	n/a	n/a
33	CTCF	chr3:134246000-134246150	HepG2	liver:	n/a	n/a
34	CTCF	chr3:134246080-134246230	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr3:134245913-134246188	GM12878	blood:	n/a	n/a
36	CTCF	chr3:134245940-134246090	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr3:134246040-134246190	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr3:134246000-134246150	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr3:134245960-134246110	GM12875	blood:	n/a	n/a
40	CTCF	chr3:134246020-134246170	HMF	breast:	n/a	n/a
41	CTCF	chr3:134245999-134246123	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr3:134246020-134246170	HCT-116	colon:	n/a	n/a
43	CTCF	chr3:134246020-134246170	K562	blood:	n/a	n/a
44	CTCF	chr3:134246103-134246108	GM10248	blood:	n/a	n/a
45	CTCF	chr3:134246040-134246190	AG09309	skin:	n/a	n/a
46	CTCF	chr3:134245971-134246190	GM12878	blood:	n/a	n/a
47	CTCF	chr3:134246080-134246230	GM12867	blood:	n/a	n/a
48	CTCF	chr3:134246060-134246210	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr3:134245980-134246130	GM06990	blood:	n/a	n/a
50	CTCF	chr3:134246327-134246328	GM19239	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134246398..134248873-chr3:134254340..134256728,2	MCF-7	breast:

No data

Variant related genes	Relation type
CEP63	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201067298	chr3:134244873-134244874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs146055671	chr3:134244878-134244879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs556590162	chr3:134244928-134244929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs576643270	chr3:134244959-134244960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538885114	chr3:134244988-134244989	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140099347	chr3:134244991-134244992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143691542	chr3:134245073-134245074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540367681	chr3:134245080-134245081	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6439482	chr3:134245101-134245102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7640260	chr3:134245114-134245115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs73221342	chr3:134245160-134245161	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs146727351	chr3:134245182-134245183	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531604905	chr3:134245262-134245263	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs187546738	chr3:134245276-134245277	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140320939	chr3:134245296-134245297	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149962094	chr3:134245301-134245302	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191621289	chr3:134245319-134245320	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76128432	chr3:134245328-134245329	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs536267948	chr3:134245378-134245379	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550123403	chr3:134245383-134245384	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373307888	chr3:134245417-134245418	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs539355461	chr3:134245419-134245420	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs2177601	chr3:134245434-134245435	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs572721963	chr3:134245441-134245442	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149107325	chr3:134245451-134245452	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs553911781	chr3:134245461-134245462	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs573645470	chr3:134245490-134245491	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77772918	chr3:134245505-134245506	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs562531245	chr3:134245516-134245517	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112665229	chr3:134245586-134245587	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575931853	chr3:134245611-134245612	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544949213	chr3:134245669-134245670	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs184253878	chr3:134245712-134245713	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs527494319	chr3:134245753-134245754	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs34848852	chr3:134245760-134245761	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs540795199	chr3:134245763-134245764	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs6799119	chr3:134245796-134245797	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2177602	chr3:134245866-134245867	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs528214553	chr3:134245911-134245912	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs73221343	chr3:134245916-134245917	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6763142	chr3:134245929-134245930	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs570076506	chr3:134245951-134245952	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs532545574	chr3:134246031-134246032	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs552905395	chr3:134246039-134246040	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs80314591	chr3:134246059-134246060	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs375223577	chr3:134246083-134246084	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs556140304	chr3:134246094-134246095	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548289842	chr3:134246124-134246125	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs568538451	chr3:134246189-134246190	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536380300	chr3:134246198-134246199	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134206600-134251600	Weak transcription	Colonic Mucosa	Colon
2	chr3:134213800-134246000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:134222000-134245800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:134224800-134245800	Weak transcription	Pancreas	Pancrea
5	chr3:134225000-134255800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:134225200-134256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:134230800-134251800	Weak transcription	Aorta	Aorta
8	chr3:134230800-134256000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:134231200-134255800	Weak transcription	Placenta	Placenta
10	chr3:134232600-134246000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:134236200-134256400	Weak transcription	A549	lung
12	chr3:134236200-134267000	Weak transcription	HSMM	muscle
13	chr3:134237000-134256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:134237000-134256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:134237200-134246800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:134238400-134245200	Weak transcription	Fetal Thymus	thymus
17	chr3:134240800-134245600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr3:134241800-134245800	Weak transcription	Gastric	stomach
19	chr3:134242600-134251200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:134242600-134251600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:134242600-134256200	Weak transcription	NHEK	skin
22	chr3:134243200-134245400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr3:134243400-134246000	Weak transcription	Thymus	Thymus
24	chr3:134243600-134245200	ZNF genes & repeats	Primary T cells from cord blood	blood
25	chr3:134243600-134246200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr3:134244400-134245200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
27	chr3:134244600-134245200	Weak transcription	Primary B cells from cord blood	blood
28	chr3:134244600-134251400	Weak transcription	Dnd41	blood
29	chr3:134244600-134251600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:134244800-134245000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
31	chr3:134244800-134245600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr3:134244800-134251200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:134244800-134251600	Weak transcription	Liver	Liver
34	chr3:134244800-134251800	Weak transcription	Fetal Intestine Large	intestine
35	chr3:134244800-134256000	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:134244800-134269600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:134245000-134251800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:134245000-134253400	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:134245000-134255800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:134245000-134255800	Weak transcription	Fetal Intestine Small	intestine
41	chr3:134245200-134245600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr3:134245200-134245800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:134245200-134245800	Weak transcription	Esophagus	oesophagus
44	chr3:134245200-134246200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr3:134245200-134246600	Strong transcription	Primary B cells from cord blood	blood
46	chr3:134245200-134246600	Strong transcription	Fetal Thymus	thymus
47	chr3:134245200-134251200	Weak transcription	Primary T cells from cord blood	blood
48	chr3:134245200-134251600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:134245200-134251800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:134245400-134245800	Weak transcription	Ovary	ovary

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