Variant report

Variant	rs6601341
Chromosome Location	chr8:9506176-9506177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10094343	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10104247	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11249930	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11784181	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12335065	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12542420	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12544673	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13275314	0.81[EUR][1000 genomes]
rs28437757	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28464158	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28610188	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28615758	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35039536	0.82[EUR][1000 genomes]
rs35468013	0.81[EUR][1000 genomes]
rs4240630	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4265191	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4413778	0.81[EUR][1000 genomes]
rs4427176	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4457339	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4481595	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4560795	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4562329	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4573280	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4841178	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4841180	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4841184	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4841200	0.85[AFR][1000 genomes]
rs4841205	0.81[EUR][1000 genomes]
rs62491543	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62491544	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62493910	0.84[EUR][1000 genomes]
rs62493913	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6601355	0.81[EUR][1000 genomes]
rs6996829	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7006406	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7464476	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7464528	0.82[EUR][1000 genomes]
rs7821799	0.81[EUR][1000 genomes]
rs7827278	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7833036	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[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	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

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	chr8:9485600-9510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:9485600-9510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:9485800-9508000	Weak transcription	Fetal Brain Female	brain
7	chr8:9487400-9509000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:9487800-9508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:9491400-9507800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:9491400-9509000	Weak transcription	HSMM	muscle
11	chr8:9492200-9508000	Weak transcription	NH-A	brain
12	chr8:9492400-9507800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:9493600-9509000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:9494400-9510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:9494600-9510600	Weak transcription	Fetal Kidney	kidney
16	chr8:9495800-9531000	Weak transcription	Gastric	stomach
17	chr8:9499800-9510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:9499800-9512400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:9500200-9508000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:9500400-9510600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:9501200-9511200	Weak transcription	Right Atrium	heart
22	chr8:9501600-9511000	Weak transcription	Ovary	ovary
23	chr8:9501600-9511400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:9501600-9525400	Weak transcription	Thymus	Thymus
25	chr8:9501800-9510400	Weak transcription	Left Ventricle	heart
26	chr8:9501800-9528400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:9501800-9534400	Weak transcription	Fetal Heart	heart
28	chr8:9502800-9511000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:9503000-9521200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:9503600-9507800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:9504000-9506200	Enhancers	Brain Anterior Caudate	brain
32	chr8:9504000-9506200	Enhancers	Brain Substantia Nigra	brain
33	chr8:9504200-9509000	Weak transcription	GM12878-XiMat	blood
34	chr8:9504200-9529400	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:9504400-9512200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:9504800-9508400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:9504800-9510400	Weak transcription	A549	lung
38	chr8:9504800-9549600	Weak transcription	Pancreas	Pancrea
39	chr8:9505000-9506600	Enhancers	NHEK	skin
40	chr8:9505000-9508800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:9505000-9509000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:9505000-9509000	Weak transcription	Adipose Nuclei	Adipose
43	chr8:9505200-9506200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:9505200-9509000	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:9505200-9510800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:9505400-9506200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:9505400-9506400	Enhancers	HepG2	liver
48	chr8:9505400-9509000	Weak transcription	Brain Angular Gyrus	brain
49	chr8:9505400-9510600	Weak transcription	Primary T cells from cord blood	blood
50	chr8:9505600-9508800	Weak transcription	Brain Inferior Temporal Lobe	brain

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