Variant report

Variant	rs1401810
Chromosome Location	chr8:121015820-121015821
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: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11986039	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986628	0.99[ASN][1000 genomes]
rs11993265	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1401812	0.96[ASN][1000 genomes]
rs1401813	0.96[ASN][1000 genomes]
rs1543200	0.99[ASN][1000 genomes]
rs1543201	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1850886	0.96[ASN][1000 genomes]
rs1879150	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037342	0.99[ASN][1000 genomes]
rs2037343	0.99[ASN][1000 genomes]
rs2037344	0.98[ASN][1000 genomes]
rs2139438	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2139439	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2176748	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2176749	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2176751	0.90[ASN][1000 genomes]
rs2271900	1.00[ASN][1000 genomes]
rs2326428	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326430	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2326433	0.95[ASN][1000 genomes]
rs2326434	0.85[ASN][1000 genomes]
rs2875927	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2875932	0.95[ASN][1000 genomes]
rs28885745	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4086915	0.99[ASN][1000 genomes]
rs4348544	0.95[ASN][1000 genomes]
rs4520205	0.93[ASN][1000 genomes]
rs4621850	0.99[ASN][1000 genomes]
rs4870969	0.92[EUR][1000 genomes]
rs4871031	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871032	0.96[ASN][1000 genomes]
rs6469882	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469888	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469891	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469893	0.92[ASN][1000 genomes]
rs6985424	0.85[ASN][1000 genomes]
rs7012522	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7386139	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7387672	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7464941	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7813264	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817075	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817379	0.96[ASN][1000 genomes]
rs7821583	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7821842	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7822000	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7822384	0.83[ASN][1000 genomes]
rs7824637	0.91[ASN][1000 genomes]
rs7829279	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832657	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7840668	0.90[ASN][1000 genomes]
rs7845541	0.95[ASN][1000 genomes]
rs7846263	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs867709	0.98[ASN][1000 genomes]
rs9297609	0.99[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:56 , 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	chr8:121004000-121017600	Weak transcription	Right Atrium	heart
5	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
6	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
7	chr8:121004800-121017400	Weak transcription	Fetal Kidney	kidney
8	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
9	chr8:121011000-121016200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:121011800-121021000	Weak transcription	Thymus	Thymus
11	chr8:121012200-121022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:121013200-121029600	Weak transcription	Right Ventricle	heart
13	chr8:121013400-121016000	Strong transcription	Fetal Intestine Small	intestine
14	chr8:121013400-121019800	Strong transcription	Fetal Stomach	stomach
15	chr8:121013400-121020000	Strong transcription	Fetal Muscle Leg	muscle
16	chr8:121013600-121016400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:121013600-121016400	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:121013800-121016200	Strong transcription	Ovary	ovary
19	chr8:121013800-121018200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr8:121013800-121019000	Weak transcription	Esophagus	oesophagus
21	chr8:121013800-121020000	Strong transcription	Fetal Intestine Large	intestine
22	chr8:121013800-121024200	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:121014400-121016600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:121014400-121019200	Weak transcription	Primary T cells from cord blood	blood
25	chr8:121014600-121016400	Weak transcription	Osteobl	bone
26	chr8:121014800-121016000	Weak transcription	A549	lung
27	chr8:121014800-121016800	Strong transcription	Gastric	stomach
28	chr8:121015000-121016000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:121015000-121016000	Strong transcription	Colon Smooth Muscle	Colon
30	chr8:121015000-121016200	Strong transcription	Brain Substantia Nigra	brain
31	chr8:121015000-121020200	Strong transcription	Liver	Liver
32	chr8:121015200-121016000	Strong transcription	Pancreas	Pancrea
33	chr8:121015200-121016000	Strong transcription	Rectal Smooth Muscle	rectum
34	chr8:121015200-121016200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:121015200-121016200	Strong transcription	Brain Cingulate Gyrus	brain
36	chr8:121015200-121017000	Strong transcription	Brain Anterior Caudate	brain
37	chr8:121015200-121018200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:121015200-121020000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:121015200-121022400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:121015200-121023400	Weak transcription	Aorta	Aorta
41	chr8:121015400-121016000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:121015400-121017800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:121015400-121018200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr8:121015400-121031600	Weak transcription	Fetal Lung	lung
45	chr8:121015600-121016200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr8:121015600-121016200	Genic enhancers	Adipose Nuclei	Adipose
47	chr8:121015600-121016200	Strong transcription	Brain Hippocampus Middle	brain
48	chr8:121015600-121017000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:121015600-121018200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr8:121015600-121029200	Weak transcription	Rectal Mucosa Donor 31	rectum

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