Variant report

Variant	rs6996829
Chromosome Location	chr8:9469061-9469062
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	chr8:9463061..9465421-chr8:9465686..9469461,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10094343	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10104247	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249930	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11784181	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12335065	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12542420	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12544673	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549064	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28437757	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464158	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28610188	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615758	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240630	0.83[EUR][1000 genomes]
rs4265191	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416825	0.86[ASN][1000 genomes]
rs4427176	0.85[EUR][1000 genomes]
rs4457339	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4481595	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560795	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4562329	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4573280	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841178	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4841180	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4841184	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4841208	0.80[EUR][1000 genomes]
rs62491543	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62491544	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62493907	0.87[ASN][1000 genomes]
rs62493909	0.84[ASN][1000 genomes]
rs62493910	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62493913	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601341	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7006406	0.81[EUR][1000 genomes]
rs7464476	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821799	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7827278	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833036	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:9435800-9472600	Weak transcription	HSMMtube	muscle
3	chr8:9439400-9472400	Weak transcription	HSMM	muscle
4	chr8:9450200-9470600	Weak transcription	NHLF	lung
5	chr8:9450200-9472200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:9450600-9469600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:9450600-9480200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:9450800-9471000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:9455400-9470600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:9455400-9471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:9457000-9470400	Weak transcription	Small Intestine	intestine
12	chr8:9460000-9469600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:9460200-9470600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:9461000-9470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:9461000-9486400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:9462200-9473800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:9463000-9479800	Weak transcription	Dnd41	blood
18	chr8:9463200-9480600	Weak transcription	Primary T cells from cord blood	blood
19	chr8:9464000-9470000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:9465600-9469600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:9466200-9473000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:9466200-9480000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:9466200-9484400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:9466400-9469800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:9466400-9470000	Weak transcription	Ovary	ovary
26	chr8:9466400-9470200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:9466400-9470200	Weak transcription	Right Atrium	heart
28	chr8:9466400-9470400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:9466400-9470600	Weak transcription	Brain Angular Gyrus	brain
30	chr8:9466400-9470800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:9466400-9471800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:9466400-9471800	Weak transcription	NHDF-Ad	bronchial
33	chr8:9466400-9472400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:9466400-9472600	Weak transcription	Primary B cells from cord blood	blood
35	chr8:9466400-9472600	Weak transcription	Pancreas	Pancrea
36	chr8:9466400-9472600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:9466400-9479800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:9466400-9483200	Weak transcription	Liver	Liver
39	chr8:9466400-9484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:9466400-9485400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr8:9466400-9491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:9466800-9470400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:9466800-9471600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:9467000-9470400	Weak transcription	Left Ventricle	heart
45	chr8:9467000-9470600	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:9467000-9471000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:9467000-9471200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:9467000-9471800	Weak transcription	GM12878-XiMat	blood
49	chr8:9467000-9472000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:9467000-9472600	Weak transcription	Right Ventricle	heart

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