Variant report

Variant	rs34269182
Chromosome Location	chr5:147824413-147824414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:147823147..147824594-chr5:148109834..148111327,18	K562	blood:
2	chr5:147823649..147825335-chr5:147857727..147860648,2	K562	blood:
3	chr5:147822228..147824516-chr5:148108919..148110549,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10041283	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10042369	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10043775	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10044061	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10051223	0.88[EUR][1000 genomes]
rs10055430	0.81[EUR][1000 genomes]
rs10056586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10060623	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10068216	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10072051	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10077690	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10079420	0.84[EUR][1000 genomes]
rs10477376	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168046	0.84[EUR][1000 genomes]
rs11168047	0.84[EUR][1000 genomes]
rs1128450	0.87[EUR][1000 genomes]
rs12513547	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12717973	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12717974	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13174567	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13354454	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17108251	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17777066	0.86[EUR][1000 genomes]
rs1971431	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984789	0.88[EUR][1000 genomes]
rs2037997	0.81[EUR][1000 genomes]
rs28617172	0.86[EUR][1000 genomes]
rs34685718	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36028618	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3734120	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734121	0.88[EUR][1000 genomes]
rs4274967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274968	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349707	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4472255	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4574534	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639212	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60625004	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6861078	0.86[EUR][1000 genomes]
rs6884076	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700502	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7713927	0.87[EUR][1000 genomes]
rs7727161	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7727320	0.87[EUR][1000 genomes]
rs7728004	0.81[EUR][1000 genomes]
rs7733401	0.87[EUR][1000 genomes]
rs7736019	0.81[EUR][1000 genomes]
rs9325095	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9325097	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9325098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv830516	chr5:147801104-147966093	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147784400-147824600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr5:147797000-147832400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:147797600-147826400	Weak transcription	Stomach Mucosa	stomach
4	chr5:147807400-147826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:147807600-147833600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:147807600-147833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:147807600-147834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:147808000-147832000	Weak transcription	Right Ventricle	heart
9	chr5:147808000-147835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:147810600-147825600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:147811800-147824600	Strong transcription	Fetal Thymus	thymus
12	chr5:147813000-147824600	Strong transcription	Left Ventricle	heart
13	chr5:147815600-147832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:147815800-147825600	Weak transcription	K562	blood
15	chr5:147817000-147829600	Weak transcription	Pancreas	Pancrea
16	chr5:147817000-147834200	Weak transcription	Gastric	stomach
17	chr5:147818200-147830600	Weak transcription	Aorta	Aorta
18	chr5:147819000-147825800	Weak transcription	HSMMtube	muscle
19	chr5:147819400-147825200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:147819400-147831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:147820800-147824800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:147820800-147825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:147820800-147826400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:147820800-147826600	Weak transcription	Small Intestine	intestine
25	chr5:147821200-147826200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:147821600-147824600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:147821800-147824600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:147821800-147824600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:147821800-147824600	Weak transcription	HUVEC	blood vessel
30	chr5:147821800-147825200	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:147821800-147825200	Weak transcription	Ovary	ovary
32	chr5:147821800-147825400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:147821800-147825600	Weak transcription	GM12878-XiMat	blood
34	chr5:147821800-147826000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:147821800-147826200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:147821800-147826200	Weak transcription	Fetal Stomach	stomach
37	chr5:147821800-147826200	Weak transcription	HepG2	liver
38	chr5:147821800-147826600	Weak transcription	NHLF	lung
39	chr5:147821800-147827000	Weak transcription	Primary B cells from cord blood	blood
40	chr5:147821800-147827600	Weak transcription	HSMM	muscle
41	chr5:147821800-147830400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:147822000-147824800	Weak transcription	Dnd41	blood
43	chr5:147822000-147826400	Weak transcription	NHEK	skin
44	chr5:147822000-147828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:147822200-147826000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:147822200-147826400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:147822200-147826600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:147822400-147828600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:147822400-147833600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr5:147822400-147834000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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