Variant report

Variant	rs6867440
Chromosome Location	chr5:145139816-145139817
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1583286	0.82[CEU][hapmap]
rs1821250	0.83[CEU][hapmap]
rs1897545	0.83[CEU][hapmap]
rs2400201	0.88[AFR][1000 genomes]
rs2400202	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs338884	0.85[CEU][hapmap]
rs338885	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs338888	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs338891	0.88[CEU][hapmap]
rs338892	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs338893	0.83[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs587224	0.83[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap]
rs6871842	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6892276	0.83[CEU][hapmap]
rs7734685	0.81[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
rs6867440	SPINK1	cis	cerebellum	SCAN

Chromatin state (count:35 , 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	chr5:145115800-145143800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:145124200-145145000	Weak transcription	Fetal Intestine Small	intestine
10	chr5:145126800-145155000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:145129600-145143400	Weak transcription	Fetal Stomach	stomach
12	chr5:145130600-145146800	Weak transcription	Adipose Nuclei	Adipose
13	chr5:145131000-145156800	Weak transcription	Gastric	stomach
14	chr5:145132800-145142000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:145133000-145154800	Weak transcription	Fetal Lung	lung
16	chr5:145133200-145142800	Weak transcription	HepG2	liver
17	chr5:145133400-145145200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:145133600-145143800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:145133800-145146800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:145133800-145154600	Weak transcription	Osteobl	bone
21	chr5:145134000-145143800	Weak transcription	HUVEC	blood vessel
22	chr5:145134400-145146800	Weak transcription	Lung	lung
23	chr5:145134800-145147000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:145135400-145146600	Weak transcription	Aorta	Aorta
25	chr5:145137200-145140000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr5:145137800-145154400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:145138000-145157800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:145138200-145146800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:145139000-145165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:145139200-145140000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:145139200-145140200	Strong transcription	Fetal Intestine Large	intestine
32	chr5:145139400-145140000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:145139400-145140400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:145139600-145140600	Enhancers	Hela-S3	cervix
35	chr5:145139600-145145200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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