Variant report

Variant	esv2525765
Chromosome Location	chr4:120243529-120245168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:120243648-120243744	A549	lung:	n/a	n/a
2	TCF7L2	chr4:120243233-120243850	HEK293	kidney:	n/a	chr4:120243575-120243585

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:120243555-120243605	AoSMC	blood vessel:	n/a
2	chr4:120243555-120243605	H1-hESC	embryonic stem cell:	embryo
3	chr4:120243555-120243605	HCF	heart:	n/a
4	chr4:120243555-120243605	HRPEpiC	eye:	n/a
5	chr4:120243555-120243605	GM12878	blood:	n/a
6	chr4:120243555-120243605	SK-N-SH_RA	brain:	n/a
7	chr4:120243555-120243605	T-47D	breast:	n/a
8	chr4:120243555-120243605	AG09309	skin:	n/a
9	chr4:120243555-120243605	ovcar-3	ovarian:	n/a
10	chr4:120243555-120243605	SK-N-SH	brain:	n/a
11	chr4:120243555-120243605	HEK293	kidney:	embryo
12	chr4:120243555-120243605	HMEC	breast:	n/a
13	chr4:120243555-120243605	BJ	skin:	n/a
14	chr4:120243555-120243605	NH-A	brain:	n/a
15	chr4:120243555-120243605	AG10803	skin:	n/a
16	chr4:120243555-120243605	ProgFib	skin:	n/a
17	chr4:120243555-120243605	HCM	heart:	n/a
18	chr4:120243555-120243605	PFSK-1	brain:	n/a
19	chr4:120243555-120243605	RPTEC	kidney:	n/a
20	chr4:120243555-120243605	LNCaP	prostate:	n/a
21	chr4:120243555-120243605	HUVEC	blood vessel:	n/a
22	chr4:120243555-120243605	HEEpiC	esophagus:	n/a
23	chr4:120243555-120243605	Hepatocyte	liver:	n/a
24	chr4:120243555-120243605	HIPEpiC	eye:	n/a
25	chr4:120243555-120243605	AG04450	lung:	fetal
26	chr4:120243555-120243605	U87	brain:	n/a
27	chr4:120243555-120243605	MCF10A-Er-Src	breast:	n/a
28	chr4:120243555-120243605	HCPEpiC	choroid plexus:	n/a
29	chr4:120243555-120243605	PrEC	prostate:	n/a
30	chr4:120243555-120243605	MCF-7	breast:	n/a
31	chr4:120243555-120243605	AG04449	skin:	fetal
32	chr4:120243555-120243605	AG09319	gingival:	n/a
33	chr4:120243555-120243605	SK-N-MC	brain:	n/a
34	chr4:120243555-120243605	GM19239	blood:	n/a
35	chr4:120243555-120243605	NHBE	bronchial:	n/a
36	chr4:120243555-120243605	HCT-116	colon:	n/a
37	chr4:120243555-120243605	SKMC	muscle:	n/a
38	chr4:120243555-120243605	GM12892	blood:	n/a
39	chr4:120243555-120243605	ECC-1	luminal epithelium:	n/a
40	chr4:120243555-120243605	K562	blood:	n/a
41	chr4:120243555-120243605	A549	lung:	n/a
42	chr4:120243555-120243605	GM06990	blood:	n/a
43	chr4:120243555-120243605	NHDF-neo	bronchial:	n/a
44	chr4:120243555-120243605	HAEpiC	amniotic membrane:	n/a
45	chr4:120243555-120243605	Jurkat	blood:	n/a
46	chr4:120243555-120243605	HPAEpiC	pulmonary alveolar:	n/a
47	chr4:120243555-120243605	NT2-D1	testis:	n/a
48	chr4:120243555-120243605	GM12891	blood:	n/a
49	chr4:120243555-120243605	HRE	kidney:	n/a
50	chr4:120243555-120243605	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
FABP2	TF binding region
FABP2	CpG island

Extended variants
information (count: 70 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80135358	chr4:120243554-120243555	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545198880	chr4:120243555-120243556	Enhancers Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs13306351	chr4:120243603-120243604	Enhancers Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533019743	chr4:120243611-120243612	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2282688	chr4:120243722-120243723	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs566380263	chr4:120243829-120243830	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575083364	chr4:120243839-120243840	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs552240699	chr4:120243873-120243874	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs146243721	chr4:120243896-120243897	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs137979949	chr4:120243952-120243953	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184081777	chr4:120243998-120243999	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs13306358	chr4:120244011-120244012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10034579	chr4:120244029-120244030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs189202026	chr4:120244030-120244031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181490827	chr4:120244039-120244040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534176015	chr4:120244054-120244055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10034661	chr4:120244085-120244086	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs574344212	chr4:120244097-120244098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543359078	chr4:120244099-120244100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540886804	chr4:120244125-120244126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13306357	chr4:120244134-120244135	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576392607	chr4:120244183-120244184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114129584	chr4:120244233-120244234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113133497	chr4:120244237-120244238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565282011	chr4:120244350-120244351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28441186	chr4:120244438-120244439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184991757	chr4:120244454-120244455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13101526	chr4:120244456-120244457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs34605419	chr4:120244464-120244465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200834322	chr4:120244467-120244468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10013042	chr4:120244482-120244483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs146511169	chr4:120244495-120244496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529121989	chr4:120244497-120244498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375022078	chr4:120244499-120244500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575271678	chr4:120244502-120244503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548897109	chr4:120244532-120244533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61574855	chr4:120244573-120244574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199908041	chr4:120244574-120244575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55884612	chr4:120244577-120244578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373735748	chr4:120244580-120244581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551456126	chr4:120244581-120244582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376380126	chr4:120244583-120244584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371070337	chr4:120244588-120244589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375114344	chr4:120244591-120244592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368454714	chr4:120244592-120244593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540178512	chr4:120244604-120244605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372310680	chr4:120244605-120244606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190439776	chr4:120244620-120244621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180882068	chr4:120244626-120244627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186236136	chr4:120244629-120244630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120222000-120251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:120222200-120244600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:120235600-120251000	Weak transcription	Left Ventricle	heart
4	chr4:120239000-120243800	Active TSS	Fetal Intestine Small	intestine
5	chr4:120239800-120244000	Active TSS	Duodenum Mucosa	Duodenum
6	chr4:120240000-120243600	Active TSS	Fetal Intestine Large	intestine
7	chr4:120240800-120243800	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr4:120240800-120244000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:120243400-120244200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:120243600-120245200	Enhancers	Fetal Intestine Large	intestine
11	chr4:120243800-120244000	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr4:120243800-120244200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:120243800-120244400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:120244000-120244400	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:120244000-120245400	Enhancers	Fetal Intestine Small	intestine
16	chr4:120244400-120244800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:120244400-120249800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:120244800-120245200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr4:120245000-120245200	Enhancers	Rectal Mucosa Donor 29	rectum

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