Variant report

Variant	rs59940446
Chromosome Location	chr8:9459879-9459880
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	chr8:9450877..9453725-chr8:9457625..9461148,3	K562	blood:
2	chr8:9453884..9455961-chr8:9458927..9460754,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10086535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10090277	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10090998	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10090999	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10093972	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10105767	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10105968	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11249940	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11249944	0.84[EUR][1000 genomes]
rs11984920	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11988208	0.86[EUR][1000 genomes]
rs11991831	0.84[EUR][1000 genomes]
rs11995167	0.86[EUR][1000 genomes]
rs12234900	0.86[EUR][1000 genomes]
rs12234999	0.86[EUR][1000 genomes]
rs12235001	0.86[EUR][1000 genomes]
rs28499425	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28562614	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28675389	0.86[EUR][1000 genomes]
rs33944167	0.88[EUR][1000 genomes]
rs34614689	0.86[EUR][1000 genomes]
rs35052906	0.90[EUR][1000 genomes]
rs35420737	0.82[EUR][1000 genomes]
rs35721526	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36036709	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4319098	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4348499	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4380943	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4383973	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4474027	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4612344	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4629869	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5002814	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5002815	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5018578	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55924085	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57000316	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57024674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57331392	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57482128	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57580633	0.94[EUR][1000 genomes]
rs57987233	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58458097	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58596872	0.90[EUR][1000 genomes]
rs58981097	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59201801	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59268701	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59519630	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60051555	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60078276	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60222666	0.90[EUR][1000 genomes]
rs60801852	0.84[EUR][1000 genomes]
rs60857446	0.84[EUR][1000 genomes]
rs60942347	0.88[EUR][1000 genomes]
rs61594550	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61682841	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6422356	0.86[EUR][1000 genomes]
rs6601358	0.88[EUR][1000 genomes]
rs6981763	0.81[EUR][1000 genomes]
rs6984737	0.96[EUR][1000 genomes]
rs6985140	0.81[EUR][1000 genomes]
rs6986755	0.84[EUR][1000 genomes]
rs6987259	0.86[EUR][1000 genomes]
rs6987746	0.82[EUR][1000 genomes]
rs6990116	0.88[EUR][1000 genomes]
rs6994452	0.84[EUR][1000 genomes]
rs6995292	0.84[EUR][1000 genomes]
rs7000182	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7001395	0.88[EUR][1000 genomes]
rs7002917	0.96[EUR][1000 genomes]
rs7009596	0.86[EUR][1000 genomes]
rs7009863	0.92[EUR][1000 genomes]
rs7013369	0.80[EUR][1000 genomes]
rs7014218	0.88[EUR][1000 genomes]
rs7016632	0.96[EUR][1000 genomes]
rs7018268	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7018348	0.90[EUR][1000 genomes]
rs73523222	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73523224	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73523249	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73535828	0.98[EUR][1000 genomes]
rs73537955	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73537959	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73537971	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73539904	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73539907	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73662516	0.84[EUR][1000 genomes]
rs7813518	0.84[EUR][1000 genomes]
rs7815297	0.88[EUR][1000 genomes]
rs7815378	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7815506	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7815644	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7818016	0.90[EUR][1000 genomes]
rs7821007	0.94[EUR][1000 genomes]
rs7827395	0.86[EUR][1000 genomes]
rs7829677	0.80[EUR][1000 genomes]
rs7837344	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7837923	0.90[EUR][1000 genomes]
rs7840161	0.96[EUR][1000 genomes]
rs7846023	0.90[EUR][1000 genomes]
rs9644705	0.88[EUR][1000 genomes]
rs9644706	0.84[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	esv1797711	chr8:9456376-9462653	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:9433600-9461000	Weak transcription	Fetal Stomach	stomach
3	chr8:9435400-9465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:9435400-9468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:9435800-9465400	Weak transcription	Lung	lung
7	chr8:9435800-9465600	Weak transcription	Pancreas	Pancrea
8	chr8:9435800-9472600	Weak transcription	HSMMtube	muscle
9	chr8:9437400-9468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:9439400-9472400	Weak transcription	HSMM	muscle
11	chr8:9439600-9465600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:9440600-9465600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:9441200-9460600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:9442600-9465400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:9447600-9465400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:9449000-9460000	Weak transcription	Spleen	Spleen
17	chr8:9449200-9465600	Weak transcription	Ovary	ovary
18	chr8:9450200-9465600	Weak transcription	NHDF-Ad	bronchial
19	chr8:9450200-9470600	Weak transcription	NHLF	lung
20	chr8:9450200-9472200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:9450600-9461000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:9450600-9469600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:9450600-9480200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:9450800-9462600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:9450800-9462800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:9450800-9464400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:9450800-9465400	Weak transcription	Left Ventricle	heart
28	chr8:9450800-9468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:9450800-9471000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:9451000-9460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:9451200-9461800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:9453400-9465400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:9454600-9465600	Weak transcription	Psoas Muscle	Psoas
34	chr8:9454800-9466000	Weak transcription	Brain Angular Gyrus	brain
35	chr8:9455200-9462200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:9455400-9462600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:9455400-9470600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:9455400-9471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:9457000-9465800	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:9457000-9470400	Weak transcription	Small Intestine	intestine
41	chr8:9457800-9460000	Weak transcription	Right Atrium	heart
42	chr8:9458000-9460800	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:9458800-9460000	Enhancers	Fetal Heart	heart
44	chr8:9459000-9460000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:9459000-9460200	Strong transcription	Primary B cells from cord blood	blood
46	chr8:9459000-9465400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:9459200-9460200	Strong transcription	Primary T cells from cord blood	blood
48	chr8:9459400-9460000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr8:9459400-9460200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:9459600-9460000	Strong transcription	Dnd41	blood

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