Variant report

Variant	rs7734685
Chromosome Location	chr5:145131986-145131987
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: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10038598	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10041421	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1019925	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1019926	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10515559	0.86[ASN][1000 genomes]
rs11952224	0.86[ASN][1000 genomes]
rs11956768	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13162113	1.00[ASN][1000 genomes]
rs1821250	0.93[MEX][hapmap]
rs1972778	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2278378	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2278379	0.82[ASN][1000 genomes]
rs2400197	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2400198	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs338884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs338885	0.85[CEU][hapmap]
rs338886	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs338887	0.92[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs338889	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs338894	0.85[CEU][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs338895	0.92[CEU][hapmap];0.84[GIH][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs338896	0.92[CEU][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs338897	0.92[CEU][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes]
rs4305683	0.82[MEX][hapmap]
rs4360088	0.98[ASN][1000 genomes]
rs4587126	1.00[ASN][1000 genomes]
rs582130	0.90[EUR][1000 genomes]
rs58973199	0.86[ASN][1000 genomes]
rs627623	0.86[EUR][1000 genomes]
rs6867440	0.85[CEU][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs6869743	0.80[AFR][1000 genomes]
rs6871842	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs694615	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs998158	1.00[JPT][hapmap];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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7734685	SPINK1	cis	cerebellum	SCAN
rs7734685	SPINK5	cis	parietal	SCAN

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	chr5:145129800-145133000	Enhancers	Fetal Lung	lung
15	chr5:145130200-145135400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:145130400-145132000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:145130400-145134800	Enhancers	Fetal Brain Male	brain
18	chr5:145130600-145132000	Enhancers	HUVEC	blood vessel
19	chr5:145130600-145132400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:145130600-145146800	Weak transcription	Adipose Nuclei	Adipose
21	chr5:145131000-145156800	Weak transcription	Gastric	stomach
22	chr5:145131400-145132000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:145131600-145132200	Enhancers	Hela-S3	cervix
24	chr5:145131600-145132200	Enhancers	NH-A	brain
25	chr5:145131600-145133000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:145131600-145133800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:145131600-145134000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:145131800-145132000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:145131800-145132600	Flanking Active TSS	Osteobl	bone
30	chr5:145131800-145133000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr5:145131800-145133600	Weak transcription	Stomach Mucosa	stomach
32	chr5:145131800-145134000	Enhancers	Fetal Brain Female	brain

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