Variant report

Variant	rs7842294
Chromosome Location	chr8:9509536-9509537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10092117	0.85[AFR][1000 genomes]
rs11775845	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13260943	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13268996	1.00[AMR][1000 genomes]
rs28538167	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4240627	0.91[AFR][1000 genomes]
rs4240628	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4258007	1.00[AMR][1000 genomes]
rs4323472	0.91[AFR][1000 genomes]
rs4368981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4373520	1.00[AMR][1000 genomes]
rs4418342	0.95[AFR][1000 genomes]
rs4613996	1.00[AMR][1000 genomes]
rs4625040	1.00[AMR][1000 genomes]
rs4840430	0.93[AFR][1000 genomes]
rs4840433	0.83[AFR][1000 genomes]
rs4840435	0.95[AFR][1000 genomes]
rs4841187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4841193	0.93[AFR][1000 genomes]
rs6601360	0.93[AFR][1000 genomes]
rs6986254	1.00[AMR][1000 genomes]
rs6990558	0.83[AFR][1000 genomes]
rs73535847	1.00[AMR][1000 genomes]
rs73537913	1.00[AMR][1000 genomes]
rs7821143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7828963	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7831760	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9644703	1.00[AMR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:9485600-9510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:9485600-9510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:9494400-9510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:9494600-9510600	Weak transcription	Fetal Kidney	kidney
6	chr8:9495800-9531000	Weak transcription	Gastric	stomach
7	chr8:9499800-9510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:9499800-9512400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:9500400-9510600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:9501200-9511200	Weak transcription	Right Atrium	heart
11	chr8:9501600-9511000	Weak transcription	Ovary	ovary
12	chr8:9501600-9511400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:9501600-9525400	Weak transcription	Thymus	Thymus
14	chr8:9501800-9510400	Weak transcription	Left Ventricle	heart
15	chr8:9501800-9528400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:9501800-9534400	Weak transcription	Fetal Heart	heart
17	chr8:9502800-9511000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:9503000-9521200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:9504200-9529400	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:9504400-9512200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:9504800-9510400	Weak transcription	A549	lung
22	chr8:9504800-9549600	Weak transcription	Pancreas	Pancrea
23	chr8:9505200-9510800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:9505400-9510600	Weak transcription	Primary T cells from cord blood	blood
25	chr8:9505600-9510400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:9505600-9510400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:9506000-9521200	Weak transcription	Aorta	Aorta
28	chr8:9506400-9530200	Weak transcription	HepG2	liver
29	chr8:9507600-9511400	Enhancers	NHDF-Ad	bronchial
30	chr8:9507800-9510000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:9507800-9529400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:9508000-9509600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:9508000-9509800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:9508000-9510400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr8:9508000-9511600	Enhancers	Osteobl	bone
36	chr8:9508000-9512600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:9508200-9510600	Enhancers	NHLF	lung
38	chr8:9508200-9512200	Weak transcription	Fetal Thymus	thymus
39	chr8:9508400-9510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:9508400-9521200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:9508600-9510400	Weak transcription	Esophagus	oesophagus
42	chr8:9508800-9510000	Enhancers	NHEK	skin
43	chr8:9509000-9509600	Enhancers	HMEC	breast
44	chr8:9509000-9509800	Enhancers	Brain Hippocampus Middle	brain
45	chr8:9509000-9513200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr8:9509000-9513400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:9509000-9514000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:9509200-9510800	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:9509200-9511600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:9509200-9512200	Weak transcription	Duodenum Mucosa	Duodenum

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