Variant report

Variant	rs2043525
Chromosome Location	chr8:64107847-64107848
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	chr8:64106160..64109170-chr8:64112814..64116314,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10086139	0.86[ASN][1000 genomes]
rs10106324	1.00[CHB][hapmap]
rs10283333	0.86[ASN][1000 genomes]
rs11988945	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12335094	1.00[CHB][hapmap]
rs12708014	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13266641	0.86[ASN][1000 genomes]
rs13280015	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1369455	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435459	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17209651	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217828	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28540594	0.86[ASN][1000 genomes]
rs4279586	1.00[CHB][hapmap]
rs4446729	1.00[CHB][hapmap]
rs6991201	0.86[ASN][1000 genomes]
rs6998134	1.00[CHB][hapmap]
rs7003413	1.00[CHB][hapmap]
rs7010484	1.00[CHB][hapmap]
rs7016325	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7016339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465150	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2043525	CA8	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64090000-64108200	Weak transcription	Fetal Heart	heart
2	chr8:64097000-64108200	Weak transcription	Right Atrium	heart
3	chr8:64100000-64108200	Weak transcription	Pancreas	Pancrea
4	chr8:64100000-64118800	Weak transcription	Esophagus	oesophagus
5	chr8:64100200-64108200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:64100200-64108200	Weak transcription	Gastric	stomach
7	chr8:64100400-64112600	Weak transcription	Stomach Mucosa	stomach
8	chr8:64100600-64113200	Weak transcription	Hela-S3	cervix
9	chr8:64100600-64122200	Weak transcription	Fetal Kidney	kidney
10	chr8:64100600-64127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:64100800-64113000	Weak transcription	HSMMtube	muscle
12	chr8:64101000-64108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:64101200-64108200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:64101200-64117200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:64101400-64108200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:64101600-64108200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:64101600-64128000	Weak transcription	Colonic Mucosa	Colon
18	chr8:64101600-64136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:64102200-64112400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:64102400-64108000	Weak transcription	Fetal Brain Male	brain
21	chr8:64103400-64108200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:64103400-64111800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:64103400-64115800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:64103400-64119800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:64103400-64127400	Weak transcription	Thymus	Thymus
26	chr8:64103600-64108200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:64103600-64108400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:64103600-64111800	Weak transcription	HepG2	liver
29	chr8:64103600-64112600	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:64103600-64115000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:64103600-64119800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:64103600-64120600	Weak transcription	Dnd41	blood
33	chr8:64103600-64121400	Weak transcription	Fetal Thymus	thymus
34	chr8:64103600-64122200	Weak transcription	Placenta	Placenta
35	chr8:64103600-64129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:64103800-64108600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:64104000-64111800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:64104200-64111800	Weak transcription	Fetal Intestine Large	intestine
39	chr8:64104400-64124800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:64104800-64109400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:64105000-64108400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:64105000-64109200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:64105000-64111200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:64105000-64112400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:64105200-64108200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:64105200-64108400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:64105200-64108600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:64105200-64112600	Weak transcription	A549	lung
49	chr8:64105200-64112800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:64105200-64114000	Enhancers	Primary T helper cells PMA-I stimulated	--

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