Variant report

Variant	rs998158
Chromosome Location	chr5:145136170-145136171
allele	A/C
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	E2F4	chr5:145136113-145136493	MCF10A-Er-Src	breast:	n/a	n/a
2	NFYB	chr5:145136165-145136188	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145130899..145133455-chr5:145134892..145136854,2	K562	blood:
2	chr5:145134194..145136208-chr5:145188501..145190902,2	K562	blood:

Variant related genes	Relation type
PRELID2	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10038598	1.00[JPT][hapmap]
rs10041421	1.00[JPT][hapmap]
rs1019925	1.00[JPT][hapmap]
rs1019926	1.00[JPT][hapmap]
rs10515559	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10515560	0.88[CHB][hapmap];0.93[AMR][1000 genomes]
rs11952224	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11956768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13162113	0.81[ASN][1000 genomes]
rs17103704	0.93[AMR][1000 genomes]
rs17103722	0.88[CHB][hapmap];0.86[AMR][1000 genomes]
rs1972778	1.00[JPT][hapmap]
rs2116746	0.93[AMR][1000 genomes]
rs2163753	0.93[AMR][1000 genomes]
rs2278378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278379	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2400197	1.00[JPT][hapmap]
rs2400198	1.00[JPT][hapmap]
rs338884	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs338886	0.81[ASN][1000 genomes]
rs4587126	0.81[ASN][1000 genomes]
rs58973199	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs694615	0.81[ASN][1000 genomes]
rs7734685	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462474	chr5:145068001-145143775	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv599934	chr5:145068001-145143775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021851	chr5:145106686-145187560	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145105400-145179000	Weak transcription	Pancreas	Pancrea
2	chr5:145109400-145194400	Weak transcription	Colonic Mucosa	Colon
3	chr5:145110400-145143800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:145111400-145166800	Weak transcription	K562	blood
5	chr5:145113600-145140000	Weak transcription	Ovary	ovary
6	chr5:145114000-145163400	Weak transcription	Small Intestine	intestine
7	chr5:145114600-145142400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:145114800-145139200	Weak transcription	Fetal Intestine Large	intestine
9	chr5:145115800-145143800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:145124200-145145000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:145124400-145139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:145126800-145155000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:145129600-145143400	Weak transcription	Fetal Stomach	stomach
14	chr5:145130600-145146800	Weak transcription	Adipose Nuclei	Adipose
15	chr5:145131000-145156800	Weak transcription	Gastric	stomach
16	chr5:145132800-145142000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:145133000-145139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:145133000-145154800	Weak transcription	Fetal Lung	lung
19	chr5:145133200-145142800	Weak transcription	HepG2	liver
20	chr5:145133400-145145200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:145133600-145143800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:145133800-145136600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:145133800-145139400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:145133800-145146800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:145133800-145154600	Weak transcription	Osteobl	bone
26	chr5:145134000-145143800	Weak transcription	HUVEC	blood vessel
27	chr5:145134400-145146800	Weak transcription	Lung	lung
28	chr5:145134800-145137200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:145134800-145147000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:145135400-145146600	Weak transcription	Aorta	Aorta
31	chr5:145136000-145136400	Enhancers	Hela-S3	cervix
32	chr5:145136000-145138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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