Variant report

Variant	rs817555
Chromosome Location	chr17:67423274-67423275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1963458	1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1972933	0.82[CEU][hapmap];0.83[LWK][hapmap]
rs2034100	1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2592207	1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6501326	0.82[CEU][hapmap];0.83[LWK][hapmap]
rs707247	0.85[CEU][hapmap]
rs707248	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]
rs732322	1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs817541	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs817542	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs817544	0.82[ASW][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs817547	0.82[ASW][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs817548	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs817549	0.82[ASW][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.90[MKK][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs817550	1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs817556	0.85[CEU][hapmap]
rs817558	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs817559	1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs817561	0.85[ASN][1000 genomes]
rs817562	0.81[ASN][1000 genomes]
rs817564	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9892444	0.82[CEU][hapmap]
rs9905795	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520649	chr17:67420433-67440811	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs817555	KCNJ16	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67411400-67425000	Weak transcription	Pancreas	Pancrea
2	chr17:67411400-67425200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:67414000-67424200	Weak transcription	Fetal Muscle Leg	muscle
4	chr17:67414000-67429600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:67414000-67429800	Weak transcription	Brain Hippocampus Middle	brain
6	chr17:67414400-67424000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:67414400-67427800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:67414400-67429400	Weak transcription	Fetal Stomach	stomach
9	chr17:67414400-67430400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:67414400-67430600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:67417200-67424000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr17:67417600-67430000	Weak transcription	Brain Substantia Nigra	brain
13	chr17:67419200-67426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:67419800-67430000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:67419800-67436600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr17:67420000-67423600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr17:67420000-67423600	Weak transcription	GM12878-XiMat	blood
18	chr17:67420000-67423600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr17:67420000-67424200	Weak transcription	Primary T cells from cord blood	blood
20	chr17:67420000-67447600	Weak transcription	Fetal Thymus	thymus
21	chr17:67420000-67498200	Weak transcription	Thymus	Thymus
22	chr17:67420200-67424200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr17:67420200-67426800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:67420400-67423800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:67420400-67423800	Weak transcription	Small Intestine	intestine
26	chr17:67420400-67424000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:67420400-67424400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:67420400-67424600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:67420400-67429600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:67420600-67426600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr17:67420600-67427000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr17:67420800-67430400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr17:67421000-67424000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr17:67421000-67424400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:67421000-67425400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:67421000-67426600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr17:67421200-67426600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr17:67421400-67423800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr17:67421400-67423800	Weak transcription	HUVEC	blood vessel
40	chr17:67421400-67426200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:67422000-67429600	Weak transcription	Psoas Muscle	Psoas
42	chr17:67422200-67424400	Enhancers	Fetal Intestine Small	intestine
43	chr17:67422200-67424800	Enhancers	Duodenum Mucosa	Duodenum
44	chr17:67422200-67425200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr17:67422400-67424400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr17:67422400-67426000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr17:67422600-67424600	Enhancers	Fetal Intestine Large	intestine
48	chr17:67422600-67424600	Weak transcription	Spleen	Spleen
49	chr17:67422600-67424800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr17:67422600-67427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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