Variant report

Variant	rs10800068
Chromosome Location	chr1:161848004-161848005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10733044	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737502	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10753645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753666	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1553444	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1806594	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2134690	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2134696	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2298019	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2341468	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2341479	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2499855	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2499856	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880055	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34312480	1.00[ASN][1000 genomes]
rs34461550	0.90[ASN][1000 genomes]
rs35621393	0.94[ASN][1000 genomes]
rs36080602	1.00[ASN][1000 genomes]
rs3767633	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233380	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4579731	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4656335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4656339	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657103	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6427633	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427639	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667896	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6685369	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6698065	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701754	0.90[ASN][1000 genomes]
rs71639910	0.98[ASN][1000 genomes]
rs7517386	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532448	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1014340	chr1:161822791-161852384	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
2	chr1:161795200-161860200	Weak transcription	Lung	lung
3	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
4	chr1:161808400-161863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:161808800-161858800	Weak transcription	Spleen	Spleen
6	chr1:161819800-161852600	Weak transcription	NHDF-Ad	bronchial
7	chr1:161820600-161849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:161823600-161858800	Weak transcription	Thymus	Thymus
9	chr1:161823800-161857000	Weak transcription	Ovary	ovary
10	chr1:161824000-161854400	Weak transcription	NH-A	brain
11	chr1:161824000-161859000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:161824200-161854400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:161824400-161853200	Weak transcription	HSMM	muscle
15	chr1:161824400-161882000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:161824600-161853400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:161824600-161858600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:161825200-161855000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:161825200-161856400	Weak transcription	K562	blood
20	chr1:161825600-161863200	Weak transcription	Fetal Heart	heart
21	chr1:161825800-161859200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:161826200-161858600	Weak transcription	Psoas Muscle	Psoas
23	chr1:161826200-161860400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:161831000-161855000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:161831800-161856400	Weak transcription	Left Ventricle	heart
26	chr1:161833000-161855600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:161834200-161853200	Weak transcription	NHLF	lung
28	chr1:161834200-161859000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:161834400-161852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:161834400-161863200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:161834600-161857400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:161834600-161858800	Weak transcription	GM12878-XiMat	blood
33	chr1:161834600-161859000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:161834600-161859000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:161835000-161856800	Weak transcription	Placenta	Placenta
36	chr1:161835400-161857200	Weak transcription	Dnd41	blood
37	chr1:161835800-161858800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:161836400-161853800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:161836400-161856400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:161836400-161857200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:161836600-161856400	Weak transcription	Fetal Intestine Large	intestine
42	chr1:161836600-161868000	Weak transcription	Fetal Kidney	kidney
43	chr1:161836600-161888400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:161836800-161861000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:161837200-161858600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:161838400-161848800	Weak transcription	Adipose Nuclei	Adipose
47	chr1:161838400-161855800	Weak transcription	Primary T cells from cord blood	blood
48	chr1:161838400-161856600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:161838400-161856800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:161838400-161857200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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