Variant report

Variant	rs57987233
Chromosome Location	chr8:9502967-9502968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9494330..9496133-chr8:9501405..9503698,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10086535	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10090277	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10090998	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10090999	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10093972	0.84[EUR][1000 genomes]
rs10105767	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10105968	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11249940	0.96[EUR][1000 genomes]
rs11249944	0.89[EUR][1000 genomes]
rs11984920	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11988208	0.91[EUR][1000 genomes]
rs11991831	0.89[EUR][1000 genomes]
rs11995167	0.91[EUR][1000 genomes]
rs12056794	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12234900	0.91[EUR][1000 genomes]
rs12234999	0.91[EUR][1000 genomes]
rs12235001	0.91[EUR][1000 genomes]
rs28495967	0.84[EUR][1000 genomes]
rs28499425	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28562614	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28675389	0.91[EUR][1000 genomes]
rs3209608	0.85[EUR][1000 genomes]
rs33944167	0.98[EUR][1000 genomes]
rs34614689	0.91[EUR][1000 genomes]
rs35052906	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35420737	0.87[EUR][1000 genomes]
rs35721526	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36036709	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4319098	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4348499	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4380943	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4383973	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4474027	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4529464	0.82[EUR][1000 genomes]
rs4612344	0.86[EUR][1000 genomes]
rs4629869	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5002814	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5002815	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5018578	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55924085	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57000316	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57024674	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57331392	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57482128	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57580633	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58458097	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58596872	0.96[EUR][1000 genomes]
rs59201801	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59268701	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59519630	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59940446	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60051555	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60078276	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60222666	0.96[EUR][1000 genomes]
rs60801852	0.89[EUR][1000 genomes]
rs60857446	0.93[EUR][1000 genomes]
rs60942347	0.98[EUR][1000 genomes]
rs61594550	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61682841	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6422356	0.96[EUR][1000 genomes]
rs6601358	0.98[EUR][1000 genomes]
rs6981763	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6984737	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6985140	0.86[EUR][1000 genomes]
rs6986755	0.89[EUR][1000 genomes]
rs6987259	0.91[EUR][1000 genomes]
rs6987746	0.92[EUR][1000 genomes]
rs6990116	0.94[EUR][1000 genomes]
rs6994452	0.93[EUR][1000 genomes]
rs6995292	0.93[EUR][1000 genomes]
rs7000182	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7001395	0.98[EUR][1000 genomes]
rs7002917	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7009596	0.96[EUR][1000 genomes]
rs7009863	0.86[AMR][1000 genomes]
rs7010154	0.83[EUR][1000 genomes]
rs7013369	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7014218	0.98[EUR][1000 genomes]
rs7016632	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7018268	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7018348	0.84[EUR][1000 genomes]
rs73523222	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73523224	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73523249	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73535828	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73537955	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73537959	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73537971	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73539904	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73539907	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73662516	0.86[EUR][1000 genomes]
rs7813518	0.93[EUR][1000 genomes]
rs7815297	0.98[EUR][1000 genomes]
rs7815378	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7815506	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7815644	0.86[EUR][1000 genomes]
rs7818016	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7821007	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7825464	0.88[AFR][1000 genomes]
rs7827395	0.91[EUR][1000 genomes]
rs7829677	0.88[AFR][1000 genomes]
rs7837344	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7837923	0.84[EUR][1000 genomes]
rs7840161	0.90[EUR][1000 genomes]
rs7846023	0.96[EUR][1000 genomes]
rs9644705	0.94[EUR][1000 genomes]
rs9644706	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1827899	chr8:9498046-9503146	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
3	chr8:9481200-9508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:9484800-9504600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:9485600-9510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:9485600-9510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:9485800-9508000	Weak transcription	Fetal Brain Female	brain
8	chr8:9487400-9509000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:9487800-9508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:9491400-9504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:9491400-9507800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:9491400-9509000	Weak transcription	HSMM	muscle
13	chr8:9492200-9508000	Weak transcription	NH-A	brain
14	chr8:9492400-9507800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:9493600-9509000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:9494400-9510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:9494600-9510600	Weak transcription	Fetal Kidney	kidney
18	chr8:9495800-9531000	Weak transcription	Gastric	stomach
19	chr8:9498400-9505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:9499800-9505000	Weak transcription	NHEK	skin
21	chr8:9499800-9510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:9499800-9512400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:9500200-9508000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:9500400-9510600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:9501200-9511200	Weak transcription	Right Atrium	heart
26	chr8:9501600-9504400	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:9501600-9511000	Weak transcription	Ovary	ovary
28	chr8:9501600-9511400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:9501600-9525400	Weak transcription	Thymus	Thymus
30	chr8:9501800-9503000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:9501800-9503000	Weak transcription	Stomach Mucosa	stomach
32	chr8:9501800-9510400	Weak transcription	Left Ventricle	heart
33	chr8:9501800-9528400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:9501800-9534400	Weak transcription	Fetal Heart	heart
35	chr8:9502400-9503000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr8:9502600-9503000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr8:9502600-9503000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr8:9502600-9504400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:9502800-9503000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr8:9502800-9503200	Enhancers	Psoas Muscle	Psoas
41	chr8:9502800-9503400	Enhancers	HepG2	liver
42	chr8:9502800-9503600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:9502800-9504200	Enhancers	GM12878-XiMat	blood
44	chr8:9502800-9511000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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