Variant report

Variant	rs4265191
Chromosome Location	chr8:9466385-9466386
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9463841..9465421-chr8:9465686..9468571,2	K562	blood:
2	chr8:9463061..9465421-chr8:9465686..9469461,3	K562	blood:
3	chr8:9465333..9467954-chr8:9469565..9472084,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10094343	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10104247	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249930	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11784181	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12335065	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12542420	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12544673	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549064	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28437757	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464158	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28610188	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615758	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240630	0.81[EUR][1000 genomes]
rs4416825	0.86[ASN][1000 genomes]
rs4427176	0.83[EUR][1000 genomes]
rs4457339	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4481595	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560795	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4562329	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4573280	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841178	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4841180	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4841184	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4841208	0.80[EUR][1000 genomes]
rs62491543	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62491544	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62493907	0.87[ASN][1000 genomes]
rs62493909	0.84[ASN][1000 genomes]
rs62493910	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62493913	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601341	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6996829	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464476	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821799	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7827278	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833036	0.95[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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9435400-9468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:9435800-9472600	Weak transcription	HSMMtube	muscle
4	chr8:9437400-9468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:9439400-9472400	Weak transcription	HSMM	muscle
6	chr8:9450200-9470600	Weak transcription	NHLF	lung
7	chr8:9450200-9472200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:9450600-9469600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:9450600-9480200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:9450800-9468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:9450800-9471000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:9455400-9470600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:9455400-9471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:9457000-9470400	Weak transcription	Small Intestine	intestine
15	chr8:9460000-9469600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:9460200-9470600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:9461000-9470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:9461000-9486400	Weak transcription	Fetal Intestine Small	intestine
19	chr8:9462200-9473800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:9462600-9468800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:9463000-9479800	Weak transcription	Dnd41	blood
22	chr8:9463200-9480600	Weak transcription	Primary T cells from cord blood	blood
23	chr8:9464000-9470000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:9464400-9466800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:9464600-9468400	Weak transcription	Brain Anterior Caudate	brain
26	chr8:9464800-9466600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:9465000-9466400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:9465400-9466400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:9465400-9466400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:9465400-9466400	Enhancers	Right Atrium	heart
31	chr8:9465400-9466400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:9465400-9467000	Enhancers	GM12878-XiMat	blood
33	chr8:9465400-9467200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:9465600-9466400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:9465600-9466400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:9465600-9466400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:9465600-9466400	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:9465600-9466400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:9465600-9466400	Enhancers	Gastric	stomach
40	chr8:9465600-9466400	Enhancers	Ovary	ovary
41	chr8:9465600-9466400	Enhancers	Pancreas	Pancrea
42	chr8:9465600-9466400	Enhancers	NHDF-Ad	bronchial
43	chr8:9465600-9467000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr8:9465600-9467000	Enhancers	Brain Hippocampus Middle	brain
45	chr8:9465600-9467600	Enhancers	Psoas Muscle	Psoas
46	chr8:9465600-9469600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:9465800-9466400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:9465800-9466600	Enhancers	Colon Smooth Muscle	Colon
49	chr8:9465800-9466800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:9465800-9467000	Enhancers	Rectal Smooth Muscle	rectum

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