Variant report

Variant	rs6469887
Chromosome Location	chr8:121015361-121015362
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	chr8:121014717..121017057-chr8:121018233..121020594,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10755922	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1519811	0.83[AMR][1000 genomes]
rs1519815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1519816	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2001252	0.90[EUR][1000 genomes]
rs2326427	0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4364674	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4501620	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56035307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56170125	0.98[EUR][1000 genomes]
rs56833210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58821811	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59029393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59096952	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59296264	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60108234	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469881	0.95[EUR][1000 genomes]
rs6469884	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6469885	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6469886	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6469892	0.83[AMR][1000 genomes]
rs6982861	0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6986597	0.95[EUR][1000 genomes]
rs6990994	0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7000361	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7006901	0.82[CEU][hapmap]
rs7010457	0.82[CEU][hapmap]
rs7017151	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7017647	0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73705874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73705875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73705877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7816108	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817365	0.83[AMR][1000 genomes]
rs7818635	0.90[EUR][1000 genomes]
rs7820945	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835784	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs7835799	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs7836028	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs7836569	0.89[EUR][1000 genomes]
rs7837374	0.82[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7845888	0.82[CEU][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:121000600-121019600	Weak transcription	Left Ventricle	heart
3	chr8:121001800-121015600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:121001800-121021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:121004000-121017600	Weak transcription	Right Atrium	heart
6	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
7	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
8	chr8:121004800-121017400	Weak transcription	Fetal Kidney	kidney
9	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
10	chr8:121005600-121015600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:121011000-121016200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:121011800-121021000	Weak transcription	Thymus	Thymus
13	chr8:121012200-121022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:121012600-121015400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:121013200-121029600	Weak transcription	Right Ventricle	heart
16	chr8:121013400-121015600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:121013400-121016000	Strong transcription	Fetal Intestine Small	intestine
18	chr8:121013400-121019800	Strong transcription	Fetal Stomach	stomach
19	chr8:121013400-121020000	Strong transcription	Fetal Muscle Leg	muscle
20	chr8:121013600-121016400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:121013600-121016400	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:121013800-121015400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:121013800-121015800	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr8:121013800-121016200	Strong transcription	Ovary	ovary
25	chr8:121013800-121018200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr8:121013800-121019000	Weak transcription	Esophagus	oesophagus
27	chr8:121013800-121020000	Strong transcription	Fetal Intestine Large	intestine
28	chr8:121013800-121024200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:121014000-121015400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:121014400-121016600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:121014400-121019200	Weak transcription	Primary T cells from cord blood	blood
32	chr8:121014600-121016400	Weak transcription	Osteobl	bone
33	chr8:121014800-121015800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr8:121014800-121016000	Weak transcription	A549	lung
35	chr8:121014800-121016800	Strong transcription	Gastric	stomach
36	chr8:121015000-121016000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:121015000-121016000	Strong transcription	Colon Smooth Muscle	Colon
38	chr8:121015000-121016200	Strong transcription	Brain Substantia Nigra	brain
39	chr8:121015000-121020200	Strong transcription	Liver	Liver
40	chr8:121015200-121015400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:121015200-121015400	Strong transcription	Brain Hippocampus Middle	brain
42	chr8:121015200-121015600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:121015200-121015600	Strong transcription	Spleen	Spleen
44	chr8:121015200-121015800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:121015200-121015800	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr8:121015200-121015800	Enhancers	Lung	lung
47	chr8:121015200-121016000	Strong transcription	Pancreas	Pancrea
48	chr8:121015200-121016000	Strong transcription	Rectal Smooth Muscle	rectum
49	chr8:121015200-121016200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:121015200-121016200	Strong transcription	Brain Cingulate Gyrus	brain

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