Variant report

Variant	rs12717973
Chromosome Location	chr5:147793971-147793972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147778531..147781784-chr5:147791686..147795349,4	K562	blood:

Variant related genes	Relation type
ENSG00000145868	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10035818	0.85[CEU][hapmap]
rs10037318	0.80[ASN][1000 genomes]
rs10041283	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10042369	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10043775	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10044054	0.82[CEU][hapmap]
rs10044061	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10050560	0.83[TSI][hapmap]
rs10051223	0.81[CEU][hapmap];0.80[TSI][hapmap]
rs10055430	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs10056586	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10060623	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10068216	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10072051	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10072958	0.85[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs10077690	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477376	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515610	0.80[ASN][1000 genomes]
rs11168046	0.81[CEU][hapmap]
rs12513547	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12521065	0.89[ASW][hapmap];0.85[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12717974	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13174567	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13354454	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363707	0.81[CEU][hapmap]
rs1422976	0.81[CEU][hapmap]
rs1582519	0.81[CEU][hapmap]
rs17108251	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719763	0.85[CEU][hapmap]
rs17720155	0.85[CEU][hapmap]
rs17776882	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs1971431	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1984789	0.81[CEU][hapmap]
rs2112761	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs2400509	0.94[GIH][hapmap];0.86[TSI][hapmap]
rs2400510	0.85[CEU][hapmap]
rs34269182	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34685718	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36028618	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734120	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3749689	0.81[CEU][hapmap]
rs3749690	0.80[CEU][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap]
rs3925019	0.81[CEU][hapmap]
rs4274967	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4274968	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4349707	0.84[CEU][hapmap];0.93[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4472255	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4574533	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4574534	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4599524	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs4639212	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639213	0.80[CEU][hapmap]
rs4705248	0.89[ASW][hapmap];0.85[CEU][hapmap];0.88[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs4705249	0.81[CEU][hapmap]
rs4705252	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs4705253	0.81[CEU][hapmap]
rs60625004	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580545	0.80[CEU][hapmap];0.83[TSI][hapmap]
rs6580546	0.81[CEU][hapmap]
rs6861078	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs6876982	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs6884076	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6892647	0.81[CEU][hapmap]
rs7700502	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7727161	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7728004	0.81[CEU][hapmap]
rs7729309	0.81[CEU][hapmap]
rs7734458	0.80[CEU][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap]
rs7736019	0.90[CEU][hapmap]
rs9325095	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9325096	0.81[CEU][hapmap]
rs9325097	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9325098	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12717973	SPINK9	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147764400-147795400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:147764400-147796600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:147764400-147806800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:147765200-147796200	Weak transcription	Esophagus	oesophagus
5	chr5:147768200-147805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:147772600-147808000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr5:147772600-147808800	Strong transcription	Dnd41	blood
8	chr5:147772800-147809400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:147773600-147808800	Strong transcription	Fetal Thymus	thymus
10	chr5:147773800-147796200	Strong transcription	HSMM	muscle
11	chr5:147774000-147809400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:147774200-147800400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:147774200-147809000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:147774400-147807800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:147775400-147801600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:147777200-147808000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr5:147777400-147823200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:147777600-147807600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:147777600-147809600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:147778000-147807600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:147778400-147808200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:147778400-147809400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:147778400-147823400	Strong transcription	Placenta	Placenta
24	chr5:147778600-147798600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:147778600-147809400	Strong transcription	Liver	Liver
26	chr5:147778800-147798400	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr5:147778800-147800400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr5:147778800-147803200	Weak transcription	Small Intestine	intestine
29	chr5:147778800-147808200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:147778800-147809400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:147778800-147822000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:147779000-147795400	Weak transcription	Fetal Intestine Small	intestine
33	chr5:147779000-147796200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr5:147779000-147796600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:147779000-147808800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:147779000-147809200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:147779000-147814400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:147779200-147796600	Weak transcription	Stomach Mucosa	stomach
39	chr5:147779200-147808800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:147779800-147799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:147780800-147808600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:147781200-147795200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:147781200-147805200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:147781400-147798800	Strong transcription	NHDF-Ad	bronchial
45	chr5:147781800-147796200	Strong transcription	NH-A	brain
46	chr5:147781800-147796200	Strong transcription	Osteobl	bone
47	chr5:147781800-147799600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:147781800-147809000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:147781800-147809000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:147781800-147809800	Strong transcription	Adipose Nuclei	Adipose

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