Variant report

Variant	rs12453226
Chromosome Location	chr17:67439453-67439454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67415729..67418090-chr17:67437901..67439947,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11077447	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11869161	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11869348	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11871952	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12451722	0.91[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12942981	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12943473	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12946388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1964442	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1964443	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1972933	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs2365493	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6501326	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs707247	0.82[CEU][hapmap]
rs817556	0.82[CEU][hapmap]
rs817564	0.85[CEU][hapmap]
rs817565	0.88[CEU][hapmap];0.88[LWK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs817566	1.00[CEU][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9892444	0.85[CEU][hapmap]
rs9905795	0.85[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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67420000-67447600	Weak transcription	Fetal Thymus	thymus
2	chr17:67420000-67498200	Weak transcription	Thymus	Thymus
3	chr17:67424400-67443800	Weak transcription	Brain Angular Gyrus	brain
4	chr17:67425400-67454600	Weak transcription	Primary B cells from cord blood	blood
5	chr17:67427000-67444000	Weak transcription	Left Ventricle	heart
6	chr17:67427000-67446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:67427400-67441400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:67428200-67443800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:67430600-67443800	Weak transcription	Small Intestine	intestine
10	chr17:67430800-67440600	Weak transcription	Right Atrium	heart
11	chr17:67430800-67440800	Weak transcription	Psoas Muscle	Psoas
12	chr17:67430800-67443800	Weak transcription	Colonic Mucosa	Colon
13	chr17:67430800-67443800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr17:67431200-67443800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr17:67432400-67443600	Weak transcription	Fetal Stomach	stomach
16	chr17:67434400-67443600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:67435600-67441400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr17:67436000-67443600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:67437000-67441400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr17:67437200-67440400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr17:67437400-67440800	Weak transcription	Primary T cells from cord blood	blood
22	chr17:67438000-67440200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr17:67438400-67439600	Enhancers	HUVEC	blood vessel
24	chr17:67438400-67440000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr17:67438600-67441200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr17:67438800-67440000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr17:67439000-67440000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr17:67439000-67442400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr17:67439000-67443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr17:67439000-67443800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr17:67439000-67445000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:67439200-67439600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr17:67439200-67443800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:67439400-67439600	Enhancers	Esophagus	oesophagus
35	chr17:67439400-67442000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr17:67439400-67442200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:67439400-67443800	Enhancers	Skeletal Muscle Male	skeletal muscle

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