Variant report

Variant	rs4653760
Chromosome Location	chr1:226816385-226816386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16846351	0.86[CHB][hapmap]
rs16846378	0.86[CHB][hapmap]
rs17589895	1.00[YRI][hapmap]
rs3754388	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3754406	0.88[CHB][hapmap]
rs3754407	0.86[CHB][hapmap]
rs3768393	1.00[YRI][hapmap]
rs3820640	1.00[YRI][hapmap]
rs3820641	0.88[CHB][hapmap]
rs41268731	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41440951	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4653456	0.97[AMR][1000 genomes]
rs4653458	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4653459	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4653460	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4653461	1.00[CHB][hapmap]
rs4653761	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73098900	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226806200-226825800	Weak transcription	Right Atrium	heart
2	chr1:226810600-226822600	Weak transcription	Gastric	stomach
3	chr1:226812400-226817800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:226813800-226817000	Enhancers	Colon Smooth Muscle	Colon
5	chr1:226813800-226817200	Weak transcription	Lung	lung
6	chr1:226814000-226817200	Enhancers	Fetal Muscle Leg	muscle
7	chr1:226814000-226817600	Weak transcription	Spleen	Spleen
8	chr1:226814200-226819400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:226814200-226820600	Weak transcription	Right Ventricle	heart
10	chr1:226814200-226821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:226814200-226823600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
13	chr1:226814400-226817400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:226814400-226817600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:226814400-226817800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:226814400-226819200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:226814400-226819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:226814400-226820200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:226814400-226821600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:226814600-226817600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:226814600-226820000	Weak transcription	Dnd41	blood
22	chr1:226814600-226824200	Weak transcription	Brain Angular Gyrus	brain
23	chr1:226814600-226824800	Weak transcription	Liver	Liver
24	chr1:226814800-226816400	Weak transcription	Fetal Thymus	thymus
25	chr1:226814800-226816600	Weak transcription	Fetal Stomach	stomach
26	chr1:226814800-226817200	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:226814800-226817600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:226814800-226819400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:226814800-226819800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:226814800-226820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:226814800-226820600	Weak transcription	Brain Anterior Caudate	brain
32	chr1:226814800-226821200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:226814800-226821600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:226814800-226830400	Strong transcription	Thymus	Thymus
35	chr1:226814800-226834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:226814800-226840600	Weak transcription	Small Intestine	intestine
37	chr1:226815000-226816400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:226815000-226816600	Weak transcription	Fetal Brain Female	brain
39	chr1:226815000-226817200	Enhancers	Fetal Muscle Trunk	muscle
40	chr1:226815000-226817400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:226815000-226817600	Weak transcription	Brain Substantia Nigra	brain
42	chr1:226815000-226818800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:226815000-226819200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:226815000-226819400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:226815000-226819400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:226815000-226819600	Weak transcription	Colonic Mucosa	Colon
47	chr1:226815000-226819800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:226815000-226820000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:226815000-226820000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:226815000-226820000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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