Variant report

Variant	rs7818016
Chromosome Location	chr8:9437309-9437310
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9436374..9438118-chr8:9448298..9450020,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10086535	0.90[EUR][1000 genomes]
rs10090277	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10093972	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10105767	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10105968	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11249940	0.84[EUR][1000 genomes]
rs11984920	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12234900	0.84[EUR][1000 genomes]
rs12234999	0.84[EUR][1000 genomes]
rs12235001	0.84[EUR][1000 genomes]
rs28499425	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs33944167	0.86[EUR][1000 genomes]
rs34614689	0.84[EUR][1000 genomes]
rs35052906	0.88[EUR][1000 genomes]
rs35721526	0.92[EUR][1000 genomes]
rs36036709	0.92[EUR][1000 genomes]
rs4319098	0.86[EUR][1000 genomes]
rs4348499	0.88[EUR][1000 genomes]
rs4380943	0.86[EUR][1000 genomes]
rs4383973	0.94[EUR][1000 genomes]
rs4474027	0.92[EUR][1000 genomes]
rs4612344	0.90[EUR][1000 genomes]
rs4629869	0.92[EUR][1000 genomes]
rs5002814	0.90[EUR][1000 genomes]
rs5002815	0.90[EUR][1000 genomes]
rs5018578	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57000316	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57024674	0.90[EUR][1000 genomes]
rs57331392	0.90[EUR][1000 genomes]
rs57482128	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs57580633	0.92[EUR][1000 genomes]
rs57987233	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs58458097	0.94[EUR][1000 genomes]
rs58596872	0.88[EUR][1000 genomes]
rs59201801	0.92[EUR][1000 genomes]
rs59268701	0.94[EUR][1000 genomes]
rs59519630	0.90[EUR][1000 genomes]
rs59940446	0.90[EUR][1000 genomes]
rs60051555	0.94[EUR][1000 genomes]
rs60078276	0.92[EUR][1000 genomes]
rs60222666	0.88[EUR][1000 genomes]
rs60942347	0.86[EUR][1000 genomes]
rs61594550	0.94[EUR][1000 genomes]
rs61682841	0.92[EUR][1000 genomes]
rs6422356	0.84[EUR][1000 genomes]
rs6601358	0.86[EUR][1000 genomes]
rs6984737	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6987746	0.80[EUR][1000 genomes]
rs6990116	0.86[EUR][1000 genomes]
rs7000182	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7001395	0.86[EUR][1000 genomes]
rs7002917	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7009596	0.84[EUR][1000 genomes]
rs7009863	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7013369	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7014218	0.86[EUR][1000 genomes]
rs7016632	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7018268	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7018348	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73523222	0.88[EUR][1000 genomes]
rs73523224	0.92[EUR][1000 genomes]
rs73523249	0.94[EUR][1000 genomes]
rs73535828	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73537955	0.90[EUR][1000 genomes]
rs73537959	0.88[EUR][1000 genomes]
rs73537971	0.90[EUR][1000 genomes]
rs73539904	0.92[EUR][1000 genomes]
rs73539907	0.92[EUR][1000 genomes]
rs7815297	0.86[EUR][1000 genomes]
rs7815378	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7815506	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7815644	0.90[EUR][1000 genomes]
rs7821007	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7825464	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7829677	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837344	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7837923	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7840161	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7846023	0.88[EUR][1000 genomes]
rs9644705	0.82[EUR][1000 genomes]
rs9644706	0.82[EUR][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:9417600-9437600	Weak transcription	Dnd41	blood
4	chr8:9422200-9438400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:9424800-9440000	Weak transcription	Fetal Lung	lung
6	chr8:9427400-9450000	Weak transcription	Thymus	Thymus
7	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:9428400-9450000	Weak transcription	Psoas Muscle	Psoas
9	chr8:9429000-9450000	Weak transcription	Fetal Kidney	kidney
10	chr8:9429200-9437800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:9430200-9442400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:9430200-9449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:9430600-9440400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:9431000-9440000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:9431000-9447000	Weak transcription	Brain Substantia Nigra	brain
16	chr8:9431000-9448800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:9431000-9449400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:9431000-9450000	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:9431800-9437400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:9432000-9444400	Weak transcription	NHEK	skin
21	chr8:9432000-9448200	Weak transcription	Fetal Brain Male	brain
22	chr8:9432400-9438200	Weak transcription	Osteobl	bone
23	chr8:9432600-9438000	Weak transcription	HMEC	breast
24	chr8:9432600-9438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:9432600-9438400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:9433600-9461000	Weak transcription	Fetal Stomach	stomach
27	chr8:9434800-9439000	Weak transcription	GM12878-XiMat	blood
28	chr8:9434800-9459000	Weak transcription	Primary B cells from cord blood	blood
29	chr8:9435000-9438200	Weak transcription	Primary T cells from cord blood	blood
30	chr8:9435200-9439000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:9435200-9444000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:9435200-9446000	Weak transcription	Fetal Thymus	thymus
33	chr8:9435200-9448800	Weak transcription	HUVEC	blood vessel
34	chr8:9435400-9437600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr8:9435400-9437600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:9435400-9437600	Weak transcription	Fetal Intestine Large	intestine
37	chr8:9435400-9437600	Weak transcription	HSMM	muscle
38	chr8:9435400-9438200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:9435400-9438600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:9435400-9438800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:9435400-9439000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:9435400-9439600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:9435400-9448800	Weak transcription	NHLF	lung
44	chr8:9435400-9449800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:9435400-9465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:9435400-9468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:9435600-9437400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:9435600-9437400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:9435600-9437600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:9435600-9438400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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