Variant report

Variant	rs6469889
Chromosome Location	chr8:121019300-121019301
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	chr8:121014717..121017057-chr8:121018233..121020594,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10110144	0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1051534	0.86[CHB][hapmap];0.80[AMR][1000 genomes]
rs10955946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955947	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11986202	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11995866	0.83[CHB][hapmap];0.82[AMR][1000 genomes]
rs12680396	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13266382	0.88[AMR][1000 genomes]
rs13272368	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1356748	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2139434	0.89[AMR][1000 genomes]
rs2326429	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28650977	0.81[AMR][1000 genomes]
rs4053282	0.84[JPT][hapmap]
rs4584180	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4870970	0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4871719	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871819	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4871821	0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871822	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871824	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4871827	0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs58564644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60657932	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62528700	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6469890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6997067	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7833689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836786	0.81[JPT][hapmap]
rs9642847	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643139	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643140	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	chr8:121001800-121021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
5	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
6	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
7	chr8:121011800-121021000	Weak transcription	Thymus	Thymus
8	chr8:121012200-121022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:121013200-121029600	Weak transcription	Right Ventricle	heart
10	chr8:121013400-121019800	Strong transcription	Fetal Stomach	stomach
11	chr8:121013400-121020000	Strong transcription	Fetal Muscle Leg	muscle
12	chr8:121013800-121020000	Strong transcription	Fetal Intestine Large	intestine
13	chr8:121013800-121024200	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:121015000-121020200	Strong transcription	Liver	Liver
15	chr8:121015200-121020000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:121015200-121022400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:121015200-121023400	Weak transcription	Aorta	Aorta
18	chr8:121015400-121031600	Weak transcription	Fetal Lung	lung
19	chr8:121015600-121029200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:121015800-121019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:121015800-121021000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:121016000-121021200	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:121016000-121023200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:121016000-121025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:121016000-121031800	Weak transcription	Pancreas	Pancrea
26	chr8:121016200-121021000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:121016800-121019800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:121017000-121019600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:121017000-121019800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:121017000-121020000	Strong transcription	Gastric	stomach
31	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
32	chr8:121017200-121029600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:121017400-121019800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr8:121017400-121019800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:121017400-121020200	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:121017600-121019800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:121017600-121020000	Strong transcription	Ovary	ovary
38	chr8:121017600-121020000	Weak transcription	Osteobl	bone
39	chr8:121017600-121020200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:121017600-121021600	Strong transcription	Fetal Intestine Small	intestine
41	chr8:121017800-121020400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:121017800-121021000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:121017800-121022400	Strong transcription	Brain Hippocampus Middle	brain
44	chr8:121017800-121042000	Weak transcription	Fetal Kidney	kidney
45	chr8:121018200-121019800	Weak transcription	Adipose Nuclei	Adipose
46	chr8:121018200-121021200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:121018200-121021800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:121018200-121023200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:121018200-121031000	Weak transcription	Spleen	Spleen
50	chr8:121018800-121023800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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