Variant report

Variant	rs55852693
Chromosome Location	chr8:8175136-8175137
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1356627	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149723	0.83[EUR][1000 genomes]
rs17603933	1.00[ASN][1000 genomes]
rs6601692	1.00[ASN][1000 genomes]
rs7009685	1.00[ASN][1000 genomes]
rs73184311	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184312	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915915	chr8:7239471-8222024	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	76 gene(s)	inside rSNPs	diseases
2	nsv533299	chr8:7268825-8222024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	75 gene(s)	inside rSNPs	diseases
3	nsv869874	chr8:7753583-8229906	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
11	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
17	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
18	nsv610156	chr8:8163243-8207339	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55852693	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8167800-8175600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:8168200-8175600	Weak transcription	Spleen	Spleen
3	chr8:8168200-8175800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:8168400-8175400	Weak transcription	Colonic Mucosa	Colon
5	chr8:8168400-8175600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:8168400-8180600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:8168800-8175600	Weak transcription	Right Ventricle	heart
8	chr8:8168800-8181400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:8168800-8187400	Weak transcription	Small Intestine	intestine
10	chr8:8169000-8181200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:8169000-8181400	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:8170600-8175600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:8170600-8184000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:8171000-8175600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:8171000-8181400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:8171200-8175800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:8171800-8175600	Weak transcription	Thymus	Thymus
18	chr8:8172200-8182400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:8172600-8175800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:8172800-8175600	Weak transcription	Gastric	stomach
21	chr8:8172800-8175800	Weak transcription	Pancreas	Pancrea
22	chr8:8173000-8175800	Weak transcription	Right Atrium	heart
23	chr8:8173000-8181400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:8173000-8182400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:8173000-8182400	Weak transcription	Psoas Muscle	Psoas
26	chr8:8173200-8176400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:8173400-8176200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:8173800-8175200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr8:8173800-8175200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:8173800-8175400	Genic enhancers	A549	lung
31	chr8:8173800-8176600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:8173800-8177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:8173800-8178400	Strong transcription	Fetal Muscle Leg	muscle
34	chr8:8173800-8187000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:8173800-8188200	Strong transcription	Primary T cells from cord blood	blood
36	chr8:8174000-8175400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:8174000-8175600	Strong transcription	Fetal Intestine Large	intestine
38	chr8:8174000-8175800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:8174000-8176200	Strong transcription	GM12878-XiMat	blood
40	chr8:8174000-8176400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:8174000-8177000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:8174000-8177000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:8174000-8178400	Strong transcription	Adipose Nuclei	Adipose
44	chr8:8174000-8181400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:8174000-8181600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:8174000-8187800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:8174200-8175600	Weak transcription	Brain Germinal Matrix	brain
48	chr8:8174200-8176800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:8174200-8177000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:8174200-8178200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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