Variant report

Variant	rs707248
Chromosome Location	chr17:67412631-67412632
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67323434..67325106-chr17:67412103..67414795,2	MCF-7	breast:
2	chr17:67411772..67413829-chr17:67415713..67418536,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11656130	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1622309	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1963458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2440132	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2592204	0.83[EUR][1000 genomes]
rs2592207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498637	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs732322	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817542	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817543	0.89[CEU][hapmap]
rs817544	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817545	0.89[CEU][hapmap];0.85[TSI][hapmap]
rs817546	0.89[CEU][hapmap]
rs817547	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817548	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817549	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817555	0.82[ASW][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs817558	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817559	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817564	1.00[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs707248	KCNJ16	cis	cerebellum	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67409800-67413200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:67410400-67413000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr17:67410400-67413000	Active TSS	Psoas Muscle	Psoas
4	chr17:67410400-67413000	Flanking Active TSS	HUVEC	blood vessel
5	chr17:67410400-67413200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr17:67410400-67413200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:67410400-67414000	Active TSS	Rectal Smooth Muscle	rectum
8	chr17:67410400-67414200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:67410400-67414200	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr17:67410400-67415400	Active TSS	GM12878-XiMat	blood
11	chr17:67410800-67412800	Active TSS	Fetal Thymus	thymus
12	chr17:67411000-67413000	Active TSS	Primary T cells fromperipheralblood	blood
13	chr17:67411200-67418600	Weak transcription	Spleen	Spleen
14	chr17:67411400-67413800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:67411400-67413800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:67411400-67414200	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr17:67411400-67425000	Weak transcription	Pancreas	Pancrea
18	chr17:67411400-67425200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:67411600-67413200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr17:67411600-67413800	Weak transcription	Ovary	ovary
21	chr17:67411800-67412800	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr17:67411800-67413000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr17:67411800-67413200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr17:67411800-67413600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:67411800-67413600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr17:67411800-67413800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:67411800-67413800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:67412000-67412800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr17:67412000-67412800	Flanking Active TSS	Fetal Brain Male	brain
30	chr17:67412000-67412800	Enhancers	Fetal Heart	heart
31	chr17:67412000-67413000	Enhancers	Primary B cells from cord blood	blood
32	chr17:67412000-67413000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:67412000-67413000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr17:67412000-67413400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr17:67412000-67413600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr17:67412000-67413800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr17:67412000-67414000	Enhancers	Small Intestine	intestine
38	chr17:67412000-67414000	Weak transcription	NH-A	brain
39	chr17:67412000-67414400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr17:67412000-67414400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr17:67412000-67414600	Weak transcription	Placenta	Placenta
42	chr17:67412200-67412800	Flanking Active TSS	Fetal Brain Female	brain
43	chr17:67412200-67413000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr17:67412200-67413400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:67412200-67413600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:67412200-67414400	Enhancers	HepG2	liver
47	chr17:67412200-67414800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:67412400-67412800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr17:67412400-67412800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr17:67412400-67412800	Weak transcription	Liver	Liver

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