Variant report

Variant	rs11249944
Chromosome Location	chr8:9609730-9609731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10086535	0.84[EUR][1000 genomes]
rs10090277	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10090998	0.88[EUR][1000 genomes]
rs10090999	0.88[EUR][1000 genomes]
rs10093972	0.82[EUR][1000 genomes]
rs10105767	0.86[EUR][1000 genomes]
rs10105968	0.84[EUR][1000 genomes]
rs11249940	0.89[EUR][1000 genomes]
rs11785739	0.83[EUR][1000 genomes]
rs11984920	0.84[EUR][1000 genomes]
rs11988208	0.87[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11991831	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11995167	0.87[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12056794	0.82[EUR][1000 genomes]
rs12234900	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12234999	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12235001	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28495967	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28499425	0.86[EUR][1000 genomes]
rs28562614	0.88[EUR][1000 genomes]
rs28675389	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3209608	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs33944167	0.91[EUR][1000 genomes]
rs34614689	0.98[EUR][1000 genomes]
rs35052906	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35420737	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35721526	0.86[EUR][1000 genomes]
rs36036709	0.90[EUR][1000 genomes]
rs4319098	0.84[EUR][1000 genomes]
rs4348499	0.86[EUR][1000 genomes]
rs4380943	0.84[EUR][1000 genomes]
rs4383973	0.88[EUR][1000 genomes]
rs4474027	0.86[EUR][1000 genomes]
rs4612344	0.84[EUR][1000 genomes]
rs4629869	0.86[EUR][1000 genomes]
rs4841215	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5002814	0.84[EUR][1000 genomes]
rs5002815	0.84[EUR][1000 genomes]
rs5018578	0.84[EUR][1000 genomes]
rs55924085	0.88[EUR][1000 genomes]
rs57000316	0.84[EUR][1000 genomes]
rs57024674	0.84[EUR][1000 genomes]
rs57331392	0.88[EUR][1000 genomes]
rs57482128	0.89[EUR][1000 genomes]
rs57580633	0.86[EUR][1000 genomes]
rs57987233	0.89[EUR][1000 genomes]
rs58458097	0.88[EUR][1000 genomes]
rs58596872	0.94[EUR][1000 genomes]
rs59201801	0.86[EUR][1000 genomes]
rs59268701	0.88[EUR][1000 genomes]
rs59519630	0.84[EUR][1000 genomes]
rs59940446	0.84[EUR][1000 genomes]
rs60051555	0.88[EUR][1000 genomes]
rs60078276	0.90[EUR][1000 genomes]
rs60222666	0.94[EUR][1000 genomes]
rs60801852	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60857446	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60942347	0.91[EUR][1000 genomes]
rs61594550	0.88[EUR][1000 genomes]
rs61682841	0.86[EUR][1000 genomes]
rs6422356	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6601358	0.91[EUR][1000 genomes]
rs6601362	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6981763	0.84[EUR][1000 genomes]
rs6984737	0.84[EUR][1000 genomes]
rs6985140	0.84[EUR][1000 genomes]
rs6986755	0.87[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6987259	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6987746	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6990116	0.87[CEU][hapmap];0.96[EUR][1000 genomes]
rs6994452	0.82[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6995292	0.87[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6999382	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7000182	0.82[EUR][1000 genomes]
rs7001395	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs7002917	0.84[EUR][1000 genomes]
rs7009596	0.94[EUR][1000 genomes]
rs7010154	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7014218	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7016632	0.84[EUR][1000 genomes]
rs7018268	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs7018348	0.82[EUR][1000 genomes]
rs73523222	0.82[EUR][1000 genomes]
rs73523224	0.86[EUR][1000 genomes]
rs73523249	0.88[EUR][1000 genomes]
rs73535828	0.82[EUR][1000 genomes]
rs73537955	0.84[EUR][1000 genomes]
rs73537959	0.82[EUR][1000 genomes]
rs73537971	0.84[EUR][1000 genomes]
rs73539904	0.86[EUR][1000 genomes]
rs73539907	0.86[EUR][1000 genomes]
rs73662516	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7813518	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7815297	0.91[EUR][1000 genomes]
rs7815378	0.82[EUR][1000 genomes]
rs7815506	0.86[EUR][1000 genomes]
rs7815644	0.84[EUR][1000 genomes]
rs7821007	0.86[EUR][1000 genomes]
rs7827395	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7837344	0.86[EUR][1000 genomes]
rs7837923	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7846023	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9644705	0.87[EUR][1000 genomes]
rs9644706	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9550000-9627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:9551200-9610600	Weak transcription	Fetal Brain Male	brain
3	chr8:9557400-9632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:9561000-9616200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:9565000-9616200	Weak transcription	Pancreas	Pancrea
6	chr8:9566000-9639400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:9567800-9611200	Weak transcription	NHEK	skin
8	chr8:9570000-9638600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:9576000-9611400	Weak transcription	Fetal Heart	heart
10	chr8:9585200-9627600	Weak transcription	Hela-S3	cervix
11	chr8:9588600-9626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:9593000-9611200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:9593200-9610200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:9593800-9610200	Weak transcription	Psoas Muscle	Psoas
15	chr8:9597600-9617000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:9598800-9610200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:9599200-9611200	Weak transcription	Fetal Kidney	kidney
18	chr8:9602800-9612400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:9603000-9638800	Weak transcription	Stomach Mucosa	stomach
20	chr8:9604200-9616400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr8:9604200-9637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:9604800-9611800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:9604800-9612200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:9604800-9612400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:9604800-9613400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:9604800-9613800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:9604800-9617000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:9604800-9617000	Strong transcription	Dnd41	blood
29	chr8:9605000-9611800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:9605000-9612200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:9605000-9612400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:9605000-9614000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:9605000-9617000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:9605000-9617000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:9605000-9617200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:9605200-9611800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:9605200-9612400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:9605200-9613800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:9605200-9617000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:9605200-9617200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:9605400-9610600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:9605400-9611600	Strong transcription	GM12878-XiMat	blood
43	chr8:9605400-9611800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:9605400-9611800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:9605400-9611800	Strong transcription	Fetal Thymus	thymus
46	chr8:9605400-9611800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:9605400-9611800	Strong transcription	HepG2	liver
48	chr8:9605400-9612000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:9605400-9612000	Strong transcription	Brain Germinal Matrix	brain
50	chr8:9605400-9612400	Strong transcription	Fetal Brain Female	brain

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