Variant report

Variant	rs2400202
Chromosome Location	chr5:145130936-145130937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1583286	0.82[CEU][hapmap]
rs1821250	0.83[CEU][hapmap];0.84[TSI][hapmap]
rs1897545	0.83[CEU][hapmap];0.84[TSI][hapmap]
rs2400201	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs338884	0.85[CEU][hapmap]
rs338885	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs338887	0.84[TSI][hapmap]
rs338888	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs338890	0.80[EUR][1000 genomes]
rs338891	0.88[CEU][hapmap]
rs338892	0.82[CEU][hapmap]
rs338893	0.83[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs338895	0.83[TSI][hapmap]
rs338896	0.84[TSI][hapmap]
rs338897	0.84[TSI][hapmap]
rs587224	0.83[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs677498	0.84[TSI][hapmap]
rs6867440	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6871842	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6892276	0.83[CEU][hapmap]
rs6898331	0.84[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2400202	SPINK5	cis	parietal	SCAN

Chromatin state (count:25 , 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	chr5:145122000-145131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:145123800-145131400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:145124200-145145000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:145124400-145139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:145126800-145155000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:145129600-145143400	Weak transcription	Fetal Stomach	stomach
16	chr5:145129800-145131800	Enhancers	Osteobl	bone
17	chr5:145129800-145133000	Enhancers	Fetal Lung	lung
18	chr5:145130200-145135400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:145130400-145131600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:145130400-145132000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:145130400-145134800	Enhancers	Fetal Brain Male	brain
22	chr5:145130600-145131600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:145130600-145132000	Enhancers	HUVEC	blood vessel
24	chr5:145130600-145132400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:145130600-145146800	Weak transcription	Adipose Nuclei	Adipose

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