Variant report

Variant	rs55730191
Chromosome Location	chr8:52827458-52827459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10104555	1.00[EUR][1000 genomes]
rs10106132	0.94[EUR][1000 genomes]
rs10106734	0.86[EUR][1000 genomes]
rs10111727	1.00[EUR][1000 genomes]
rs11984688	0.87[EUR][1000 genomes]
rs11990932	0.86[EUR][1000 genomes]
rs16916958	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1996261	0.94[EUR][1000 genomes]
rs28829739	0.94[EUR][1000 genomes]
rs4242473	0.94[EUR][1000 genomes]
rs4242477	0.94[EUR][1000 genomes]
rs4242478	0.80[EUR][1000 genomes]
rs4257997	0.94[EUR][1000 genomes]
rs4305894	0.80[EUR][1000 genomes]
rs4418330	0.80[EUR][1000 genomes]
rs4500071	0.80[EUR][1000 genomes]
rs4518654	0.80[EUR][1000 genomes]
rs4873599	0.94[EUR][1000 genomes]
rs4873600	0.80[EUR][1000 genomes]
rs4873601	0.80[EUR][1000 genomes]
rs4873605	0.80[EUR][1000 genomes]
rs4873612	0.86[EUR][1000 genomes]
rs55791360	0.86[EUR][1000 genomes]
rs56034922	1.00[EUR][1000 genomes]
rs56105709	0.80[EUR][1000 genomes]
rs56109937	0.86[EUR][1000 genomes]
rs56150121	0.80[EUR][1000 genomes]
rs6473663	0.80[EUR][1000 genomes]
rs6997032	0.94[EUR][1000 genomes]
rs6997972	0.86[EUR][1000 genomes]
rs7000570	0.80[EUR][1000 genomes]
rs73583635	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73583640	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73588487	0.87[EUR][1000 genomes]
rs73592250	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7820936	0.80[EUR][1000 genomes]
rs7845506	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52812800-52827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:52812800-52833400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:52813200-52831000	Weak transcription	Right Ventricle	heart
4	chr8:52813200-52833200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:52813400-52829000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:52813400-52829200	Weak transcription	Brain Anterior Caudate	brain
7	chr8:52813400-52837200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:52813600-52837400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:52813800-52831600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:52813800-52831600	Weak transcription	Fetal Stomach	stomach
11	chr8:52813800-52833200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:52813800-52835800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:52813800-52837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:52814000-52833200	Weak transcription	Fetal Lung	lung
15	chr8:52814000-52833600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:52814000-52836200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:52814000-52837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:52814000-52839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:52814200-52842000	Weak transcription	Brain Substantia Nigra	brain
20	chr8:52814200-52850000	Weak transcription	Spleen	Spleen
21	chr8:52814800-52829600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:52814800-52834200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:52814800-52834600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:52814800-52837200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:52815000-52852000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:52815200-52828400	Weak transcription	Dnd41	blood
27	chr8:52815200-52833000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:52815200-52837400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:52816200-52831000	Weak transcription	Primary T cells from cord blood	blood
30	chr8:52817200-52827800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:52817200-52830800	Weak transcription	Left Ventricle	heart
32	chr8:52817200-52830800	Weak transcription	Ovary	ovary
33	chr8:52817200-52833400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:52817800-52831000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:52818000-52834800	Weak transcription	Pancreas	Pancrea
36	chr8:52819400-52834200	Weak transcription	Psoas Muscle	Psoas
37	chr8:52822400-52837800	Weak transcription	Esophagus	oesophagus
38	chr8:52822600-52860200	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:52823000-52830000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:52823000-52830800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:52823000-52833600	Weak transcription	Thymus	Thymus
42	chr8:52823000-52834800	Weak transcription	Fetal Intestine Small	intestine
43	chr8:52823000-52840200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:52823600-52838200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:52824200-52831600	Weak transcription	Aorta	Aorta
46	chr8:52824800-52832600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:52825600-52829000	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:52826600-52828000	Strong transcription	Liver	Liver
49	chr8:52826600-52828200	Strong transcription	Primary B cells from cord blood	blood
50	chr8:52826600-52828400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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