Variant report

Variant	rs6992091
Chromosome Location	chr8:8168222-8168223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8152575..8156744-chr8:8165539..8169727,4	MCF-7	breast:
2	chr8:8163385..8165177-chr8:8167014..8169330,2	MCF-7	breast:
3	chr8:8146324..8147133-chr8:8168152..8168656,2	MCF-7	breast:
4	chr8:8168175..8169902-chr8:8242938..8245869,2	MCF-7	breast:
5	chr8:8147573..8150272-chr8:8166843..8168780,2	MCF-7	breast:
6	chr8:8151935..8153565-chr8:8167280..8169778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182319	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10108729	0.82[EUR][1000 genomes]
rs10108735	0.82[EUR][1000 genomes]
rs1107832	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17149727	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17602960	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17603787	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17666595	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2139203	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2139204	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2140125	0.82[EUR][1000 genomes]
rs2176630	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28645633	0.85[EUR][1000 genomes]
rs56297116	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56735175	1.00[ASN][1000 genomes]
rs58054574	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59224164	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6601686	0.86[EUR][1000 genomes]
rs6601689	0.88[EUR][1000 genomes]
rs66914826	0.84[EUR][1000 genomes]
rs68174081	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6985501	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7004604	0.83[EUR][1000 genomes]
rs7014953	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820459	0.88[EUR][1000 genomes]
rs7826987	0.85[EUR][1000 genomes]
rs7836459	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7841082	0.88[EUR][1000 genomes]
rs7845203	0.85[EUR][1000 genomes]
rs793504	0.85[EUR][1000 genomes]
rs793505	0.85[EUR][1000 genomes]
rs793506	0.86[EUR][1000 genomes]
rs793508	0.84[EUR][1000 genomes]
rs793509	0.85[EUR][1000 genomes]
rs793510	0.86[EUR][1000 genomes]
rs793728	0.86[EUR][1000 genomes]
rs793762	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	esv2752266	chr8:7291132-8171471	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
4	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
5	nsv890330	chr8:8065046-8168413	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	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
7	esv3584878	chr8:8093182-8171471	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	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
9	nsv610151	chr8:8098079-8168413	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv1033952	chr8:8108863-8169587	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	nsv890332	chr8:8117808-8168413	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	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
24	nsv1031521	chr8:8131347-8168474	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv1026495	chr8:8131347-8172960	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
26	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
rs6992091	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8163400-8174000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:8164000-8168600	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:8164000-8171800	Weak transcription	Fetal Kidney	kidney
4	chr8:8164400-8174600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:8166800-8168800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:8166800-8169000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:8166800-8169800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:8167000-8168800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:8167000-8169200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:8167200-8168600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:8167200-8168800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr8:8167200-8169800	Enhancers	NH-A	brain
13	chr8:8167200-8170600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:8167200-8170600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:8167200-8170600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:8167200-8171000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:8167200-8171200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:8167200-8171200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:8167200-8171200	Enhancers	HepG2	liver
20	chr8:8167200-8173200	Enhancers	HUVEC	blood vessel
21	chr8:8167400-8168400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:8167400-8168600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:8167400-8168600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:8167400-8168600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr8:8167400-8168800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:8167400-8168800	Enhancers	Fetal Heart	heart
27	chr8:8167400-8168800	Enhancers	HSMM	muscle
28	chr8:8167400-8169000	Enhancers	Adipose Nuclei	Adipose
29	chr8:8167400-8169000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:8167400-8169000	Flanking Active TSS	A549	lung
31	chr8:8167400-8169200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:8167400-8169600	Enhancers	NHDF-Ad	bronchial
33	chr8:8167400-8170600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:8167400-8170600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:8167400-8171000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr8:8167400-8171000	Enhancers	HMEC	breast
37	chr8:8167400-8171200	Enhancers	Brain Anterior Caudate	brain
38	chr8:8167400-8171200	Enhancers	Stomach Mucosa	stomach
39	chr8:8167600-8168400	Enhancers	Psoas Muscle	Psoas
40	chr8:8167600-8168800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:8167600-8168800	Enhancers	Duodenum Mucosa	Duodenum
42	chr8:8167600-8168800	Enhancers	Esophagus	oesophagus
43	chr8:8167600-8168800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr8:8167600-8168800	Enhancers	Fetal Muscle Leg	muscle
45	chr8:8167600-8168800	Enhancers	Left Ventricle	heart
46	chr8:8167600-8168800	Enhancers	Pancreas	Pancrea
47	chr8:8167600-8168800	Enhancers	Right Atrium	heart
48	chr8:8167600-8168800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:8167600-8169000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:8167600-8169000	Enhancers	Brain Angular Gyrus	brain

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