Variant report

Variant	rs73998272
Chromosome Location	chr17:67426642-67426643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs28678617	1.00[EUR][1000 genomes]
rs55987469	1.00[EUR][1000 genomes]
rs59236807	1.00[EUR][1000 genomes]
rs60034644	1.00[EUR][1000 genomes]
rs60545999	1.00[EUR][1000 genomes]
rs60997207	1.00[EUR][1000 genomes]
rs61673269	1.00[EUR][1000 genomes]
rs6501325	1.00[EUR][1000 genomes]
rs7207318	1.00[EUR][1000 genomes]
rs7212671	1.00[EUR][1000 genomes]
rs7217016	1.00[EUR][1000 genomes]
rs7223220	1.00[EUR][1000 genomes]
rs7226269	1.00[EUR][1000 genomes]
rs73363579	1.00[EUR][1000 genomes]
rs73363593	1.00[EUR][1000 genomes]
rs73363596	1.00[EUR][1000 genomes]
rs73363598	1.00[EUR][1000 genomes]
rs73998239	1.00[EUR][1000 genomes]
rs73998240	1.00[EUR][1000 genomes]
rs73998241	1.00[EUR][1000 genomes]
rs73998244	1.00[EUR][1000 genomes]
rs73998255	1.00[EUR][1000 genomes]
rs73998270	1.00[EUR][1000 genomes]
rs8076188	1.00[EUR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67414000-67429600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:67414000-67429800	Weak transcription	Brain Hippocampus Middle	brain
3	chr17:67414400-67427800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:67414400-67429400	Weak transcription	Fetal Stomach	stomach
5	chr17:67414400-67430400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr17:67414400-67430600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:67417600-67430000	Weak transcription	Brain Substantia Nigra	brain
8	chr17:67419800-67430000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:67419800-67436600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr17:67420000-67447600	Weak transcription	Fetal Thymus	thymus
11	chr17:67420000-67498200	Weak transcription	Thymus	Thymus
12	chr17:67420200-67426800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:67420400-67429600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:67420600-67427000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:67420800-67430400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:67422000-67429600	Weak transcription	Psoas Muscle	Psoas
17	chr17:67422600-67427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:67422800-67429200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:67423600-67427400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr17:67423800-67427200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr17:67424000-67427200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr17:67424000-67427400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr17:67424400-67430400	Weak transcription	Stomach Mucosa	stomach
24	chr17:67424400-67430600	Weak transcription	Fetal Intestine Small	intestine
25	chr17:67424400-67443800	Weak transcription	Brain Angular Gyrus	brain
26	chr17:67424600-67429000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr17:67424600-67435200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr17:67424800-67426800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:67424800-67429200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr17:67425000-67427200	Weak transcription	Primary T cells from cord blood	blood
31	chr17:67425000-67427600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr17:67425000-67428400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr17:67425200-67426800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:67425200-67426800	Enhancers	GM12878-XiMat	blood
35	chr17:67425200-67427200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr17:67425200-67429000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr17:67425400-67426800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr17:67425400-67427000	Weak transcription	Small Intestine	intestine
39	chr17:67425400-67428200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr17:67425400-67430400	Weak transcription	Esophagus	oesophagus
41	chr17:67425400-67430400	Weak transcription	Spleen	Spleen
42	chr17:67425400-67454600	Weak transcription	Primary B cells from cord blood	blood
43	chr17:67425600-67426800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr17:67425600-67427200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr17:67425600-67428400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr17:67425600-67428400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr17:67425600-67428600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr17:67425800-67427000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:67425800-67427400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:67425800-67427400	Enhancers	HMEC	breast

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