Variant report

Variant	rs34032254
Chromosome Location	chr1:222859490-222859491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222858076..222860174-chr1:222871330..222873688,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10495198	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1133220	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043288	0.92[ASN][1000 genomes]
rs12138316	0.98[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17011666	0.86[ASN][1000 genomes]
rs17011681	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17163313	0.87[ASN][1000 genomes]
rs17163345	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17163358	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17163360	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17163363	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17465637	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17465940	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17465982	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17532708	0.92[ASN][1000 genomes]
rs1909195	0.84[ASN][1000 genomes]
rs2133187	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2133189	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2270707	0.86[ASN][1000 genomes]
rs2291832	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291834	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28709375	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35158675	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs35175385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35626308	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35700460	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35725247	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3748626	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4282830	0.92[ASN][1000 genomes]
rs4575092	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4846384	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4846770	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs61824331	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67180937	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71524942	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222835200-222884600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222839000-222859800	Weak transcription	Small Intestine	intestine
3	chr1:222839000-222877400	Weak transcription	Psoas Muscle	Psoas
4	chr1:222839000-222884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:222839200-222861200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:222839600-222884600	Weak transcription	Esophagus	oesophagus
7	chr1:222839800-222859600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:222839800-222859600	Weak transcription	Fetal Brain Male	brain
9	chr1:222840000-222884600	Weak transcription	Colonic Mucosa	Colon
10	chr1:222841000-222859600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:222841200-222866200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:222841200-222883400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:222841400-222883200	Weak transcription	Fetal Heart	heart
14	chr1:222842800-222867800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:222843400-222860200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:222844000-222863600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:222845000-222859600	Weak transcription	Spleen	Spleen
18	chr1:222845000-222866800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr1:222845000-222884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:222845200-222859600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:222845200-222859600	Weak transcription	Hela-S3	cervix
22	chr1:222845200-222864400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:222845600-222859600	Weak transcription	Fetal Kidney	kidney
24	chr1:222846200-222859600	Weak transcription	Aorta	Aorta
25	chr1:222846600-222859600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:222847600-222859600	Weak transcription	HepG2	liver
27	chr1:222847800-222859600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:222847800-222872000	Weak transcription	Fetal Intestine Small	intestine
29	chr1:222848800-222859600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:222849200-222859600	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:222849200-222859800	Weak transcription	A549	lung
32	chr1:222849200-222862400	Weak transcription	Right Ventricle	heart
33	chr1:222849200-222875600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:222849400-222859600	Weak transcription	K562	blood
35	chr1:222849400-222875400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:222849400-222883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:222849600-222877800	Weak transcription	Fetal Brain Female	brain
38	chr1:222849800-222859600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:222851400-222860800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:222851800-222866600	Strong transcription	Primary B cells from cord blood	blood
41	chr1:222852000-222861000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:222852000-222861800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:222852000-222868400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:222852400-222883800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:222853000-222861000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:222853000-222861600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:222854000-222859600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:222854000-222875600	Weak transcription	NHLF	lung
49	chr1:222855000-222861800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:222855200-222884600	Weak transcription	Pancreas	Pancrea

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