Variant report

Variant	rs4705252
Chromosome Location	chr5:147761285-147761286
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	chr5:147754412..147757315-chr5:147760463..147763292,2	MCF-7	breast:
2	chr5:147752174..147758747-chr5:147760816..147763342,8	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10036053	0.89[EUR][1000 genomes]
rs10037318	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10044054	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs10050560	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs10057472	0.92[EUR][1000 genomes]
rs10060180	0.82[EUR][1000 genomes]
rs10060753	0.81[CEU][hapmap]
rs10068891	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs10072817	0.92[EUR][1000 genomes]
rs10072958	0.95[CEU][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs10077690	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs10476892	0.88[EUR][1000 genomes]
rs10477374	0.89[EUR][1000 genomes]
rs10515610	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12516267	0.93[EUR][1000 genomes]
rs12519039	0.95[EUR][1000 genomes]
rs12521065	0.95[CEU][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs12717971	0.91[EUR][1000 genomes]
rs12717973	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs13153619	0.88[EUR][1000 genomes]
rs13157347	0.92[EUR][1000 genomes]
rs13158948	0.88[EUR][1000 genomes]
rs13176114	0.85[EUR][1000 genomes]
rs13358385	0.95[EUR][1000 genomes]
rs1345741	0.86[CEU][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs1363704	0.89[EUR][1000 genomes]
rs1363705	0.91[EUR][1000 genomes]
rs1363707	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1422968	0.91[EUR][1000 genomes]
rs1422970	0.91[EUR][1000 genomes]
rs1422976	1.00[CEU][hapmap]
rs1422977	0.83[EUR][1000 genomes]
rs1582519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719578	0.85[EUR][1000 genomes]
rs17719662	0.89[EUR][1000 genomes]
rs17719763	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs17719873	0.91[EUR][1000 genomes]
rs17776554	0.95[EUR][1000 genomes]
rs17776674	0.92[EUR][1000 genomes]
rs1862430	0.85[EUR][1000 genomes]
rs1862431	0.89[EUR][1000 genomes]
rs2161432	0.88[EUR][1000 genomes]
rs2216653	0.88[EUR][1000 genomes]
rs2400509	0.90[CEU][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs2400510	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs28442279	0.92[EUR][1000 genomes]
rs2895761	0.91[EUR][1000 genomes]
rs34001290	0.86[EUR][1000 genomes]
rs34163281	0.85[EUR][1000 genomes]
rs35006442	0.85[EUR][1000 genomes]
rs35700061	0.91[EUR][1000 genomes]
rs35792476	0.85[EUR][1000 genomes]
rs3749689	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3749690	0.90[CEU][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs4406123	0.83[EUR][1000 genomes]
rs4705247	0.86[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs4705248	0.95[CEU][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs4705249	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4705251	0.94[EUR][1000 genomes]
rs6580542	0.85[EUR][1000 genomes]
rs6580544	0.90[EUR][1000 genomes]
rs6580545	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6580546	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6580548	0.89[EUR][1000 genomes]
rs6860261	0.87[EUR][1000 genomes]
rs6865036	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6865972	0.86[EUR][1000 genomes]
rs6866106	0.89[EUR][1000 genomes]
rs6875252	0.85[EUR][1000 genomes]
rs6875795	0.90[EUR][1000 genomes]
rs6876308	0.92[EUR][1000 genomes]
rs6876982	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs6882932	0.84[EUR][1000 genomes]
rs6886203	0.89[EUR][1000 genomes]
rs6891724	0.89[EUR][1000 genomes]
rs6892647	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6893378	0.86[EUR][1000 genomes]
rs6894032	0.88[EUR][1000 genomes]
rs7712350	0.92[EUR][1000 genomes]
rs7713986	0.85[EUR][1000 genomes]
rs7716578	0.89[EUR][1000 genomes]
rs7722458	0.96[EUR][1000 genomes]
rs7729309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730707	0.90[EUR][1000 genomes]
rs7731526	0.95[EUR][1000 genomes]
rs7734458	0.90[CEU][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs7736728	0.88[EUR][1000 genomes]
rs9325094	0.96[EUR][1000 genomes]
rs9784645	0.87[EUR][1000 genomes]
rs999741	0.88[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4705252	SPINK9	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147729200-147762200	Weak transcription	Aorta	Aorta
2	chr5:147747800-147762400	Weak transcription	Ovary	ovary
3	chr5:147749800-147762200	Weak transcription	Adipose Nuclei	Adipose
4	chr5:147750000-147762400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:147751200-147761800	Weak transcription	Fetal Brain Male	brain
6	chr5:147751400-147763000	Weak transcription	Esophagus	oesophagus
7	chr5:147751800-147762400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:147752600-147762200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:147752600-147762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:147752800-147762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:147752800-147762800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:147753200-147762200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:147754400-147762200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:147754400-147762200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:147754400-147762400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:147754600-147762400	Weak transcription	Stomach Mucosa	stomach
17	chr5:147754800-147762400	Weak transcription	Fetal Intestine Large	intestine
18	chr5:147755000-147762000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:147755000-147762200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:147755400-147762000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:147755400-147762400	Weak transcription	Fetal Stomach	stomach
22	chr5:147755400-147762400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:147755400-147762600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:147755600-147761600	Weak transcription	Right Atrium	heart
25	chr5:147755600-147762400	Weak transcription	Pancreas	Pancrea
26	chr5:147755600-147763000	Weak transcription	Lung	lung
27	chr5:147755800-147762400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:147756000-147762600	Weak transcription	Right Ventricle	heart
29	chr5:147756200-147762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:147756600-147762800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:147757000-147763200	Weak transcription	Gastric	stomach
32	chr5:147757400-147762000	Enhancers	HUVEC	blood vessel
33	chr5:147757800-147762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:147758200-147761600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:147758200-147761600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:147758200-147762000	Weak transcription	Liver	Liver
37	chr5:147758400-147762200	Weak transcription	Brain Anterior Caudate	brain
38	chr5:147758400-147762200	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:147758400-147762400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr5:147758600-147762200	Weak transcription	Primary B cells from cord blood	blood
41	chr5:147758600-147762200	Weak transcription	Fetal Intestine Small	intestine
42	chr5:147758800-147763000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:147759400-147761800	Enhancers	Fetal Heart	heart
44	chr5:147759400-147762800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:147759600-147762000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:147759600-147762600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:147759800-147762200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:147759800-147762400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr5:147759800-147762400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:147760000-147761600	Weak transcription	Dnd41	blood

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