Variant report

Variant	rs817554
Chromosome Location	chr17:67424788-67424789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2592208	0.81[ASN][1000 genomes]
rs333910	0.81[ASN][1000 genomes]
rs4968791	0.81[ASN][1000 genomes]
rs707246	0.82[ASN][1000 genomes]
rs707247	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817543	0.87[ASN][1000 genomes]
rs817545	0.87[ASN][1000 genomes]
rs817546	0.87[ASN][1000 genomes]
rs817556	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817557	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs817565	0.97[ASN][1000 genomes]
rs817566	0.97[ASN][1000 genomes]

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

No data

Chromatin state (count:71 , 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	chr17:67414000-67429600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:67414000-67429800	Weak transcription	Brain Hippocampus Middle	brain
5	chr17:67414400-67427800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:67414400-67429400	Weak transcription	Fetal Stomach	stomach
7	chr17:67414400-67430400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr17:67414400-67430600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:67417600-67430000	Weak transcription	Brain Substantia Nigra	brain
10	chr17:67419200-67426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:67419800-67430000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:67419800-67436600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr17:67420000-67447600	Weak transcription	Fetal Thymus	thymus
14	chr17:67420000-67498200	Weak transcription	Thymus	Thymus
15	chr17:67420200-67426800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:67420400-67429600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:67420600-67426600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:67420600-67427000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr17:67420800-67430400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:67421000-67425400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:67421000-67426600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr17:67421200-67426600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr17:67421400-67426200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:67422000-67429600	Weak transcription	Psoas Muscle	Psoas
25	chr17:67422200-67424800	Enhancers	Duodenum Mucosa	Duodenum
26	chr17:67422200-67425200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:67422400-67426000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr17:67422600-67424800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr17:67422600-67427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr17:67422800-67425000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:67422800-67425000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr17:67422800-67425600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr17:67422800-67425600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr17:67422800-67429200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:67423000-67425000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr17:67423000-67425600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr17:67423200-67425400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr17:67423200-67425800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr17:67423600-67424800	Enhancers	GM12878-XiMat	blood
40	chr17:67423600-67427400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr17:67423800-67424800	Enhancers	Colonic Mucosa	Colon
42	chr17:67423800-67425400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr17:67423800-67425400	Enhancers	Small Intestine	intestine
44	chr17:67423800-67427200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr17:67424000-67425800	Weak transcription	HMEC	breast
46	chr17:67424000-67427200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr17:67424000-67427400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr17:67424200-67424800	Enhancers	Colon Smooth Muscle	Colon
49	chr17:67424200-67424800	Enhancers	Fetal Muscle Leg	muscle
50	chr17:67424200-67424800	Enhancers	Skeletal Muscle Male	skeletal muscle

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