Variant report

Variant	rs1128450
Chromosome Location	chr5:147822135-147822136
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147816876..147819657-chr5:147820613..147823403,2	K562	blood:
2	chr5:147822042..147823728-chr5:148108945..148110549,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10035818	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10042369	0.86[EUR][1000 genomes]
rs10043775	0.86[EUR][1000 genomes]
rs10051223	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055332	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10055430	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10056586	0.87[EUR][1000 genomes]
rs10060623	0.81[EUR][1000 genomes]
rs10079420	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10477376	0.81[EUR][1000 genomes]
rs11168046	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168047	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12513547	0.86[EUR][1000 genomes]
rs12717974	0.83[EUR][1000 genomes]
rs13174567	0.87[EUR][1000 genomes]
rs13354454	0.82[EUR][1000 genomes]
rs1345741	0.84[AMR][1000 genomes]
rs1363707	0.80[AMR][1000 genomes]
rs17108251	0.81[EUR][1000 genomes]
rs17720155	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17776882	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17777066	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1971431	0.86[EUR][1000 genomes]
rs1984789	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2037997	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2112761	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28442279	0.80[AMR][1000 genomes]
rs28617172	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34269182	0.87[EUR][1000 genomes]
rs34685718	0.81[EUR][1000 genomes]
rs36028618	0.81[EUR][1000 genomes]
rs3734120	0.87[EUR][1000 genomes]
rs3734121	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925019	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4274967	0.87[EUR][1000 genomes]
rs4274968	0.87[EUR][1000 genomes]
rs4349707	0.81[EUR][1000 genomes]
rs4406123	0.84[AMR][1000 genomes]
rs4472255	0.87[EUR][1000 genomes]
rs4574533	0.87[EUR][1000 genomes]
rs4599524	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4599526	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4639212	0.82[EUR][1000 genomes]
rs4639213	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705253	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60625004	0.86[EUR][1000 genomes]
rs6861078	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884076	0.87[EUR][1000 genomes]
rs7700502	0.86[EUR][1000 genomes]
rs7713927	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7727161	0.86[EUR][1000 genomes]
rs7727320	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7728004	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7733401	0.97[EUR][1000 genomes]
rs7736019	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9325095	0.81[EUR][1000 genomes]
rs9325096	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9325097	0.87[EUR][1000 genomes]
rs9325098	0.87[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	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147777400-147823200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:147778400-147823400	Strong transcription	Placenta	Placenta
3	chr5:147781800-147823600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:147782600-147822800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:147784200-147823600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr5:147784400-147824600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:147797000-147832400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:147797600-147826400	Weak transcription	Stomach Mucosa	stomach
9	chr5:147801200-147823600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:147804400-147822200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:147807400-147826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:147807600-147823800	Weak transcription	Brain Angular Gyrus	brain
13	chr5:147807600-147824400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:147807600-147833600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:147807600-147833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:147807600-147834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:147808000-147832000	Weak transcription	Right Ventricle	heart
18	chr5:147808000-147835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:147808200-147822200	Weak transcription	Colonic Mucosa	Colon
20	chr5:147810200-147822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:147810200-147823000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:147810200-147823600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:147810200-147824400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr5:147810400-147823200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:147810400-147823400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:147810400-147823600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:147810600-147822400	Strong transcription	Fetal Intestine Large	intestine
28	chr5:147810600-147822800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr5:147810600-147825600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:147811200-147823400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:147811400-147823400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:147811600-147823000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:147811800-147823400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr5:147811800-147824600	Strong transcription	Fetal Thymus	thymus
35	chr5:147812000-147823200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:147812000-147823400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:147812000-147823400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr5:147812200-147823600	Strong transcription	Liver	Liver
39	chr5:147812400-147822400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:147812400-147823600	Strong transcription	Osteobl	bone
41	chr5:147812600-147822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:147812600-147823000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:147812600-147823400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr5:147812800-147822200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:147812800-147822200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:147812800-147823400	Strong transcription	Fetal Muscle Leg	muscle
47	chr5:147812800-147823600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:147812800-147823600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr5:147813000-147824600	Strong transcription	Left Ventricle	heart
50	chr5:147813400-147823600	Strong transcription	Muscle Satellite Cultured Cells	--

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