Variant report

Variant	rs686868
Chromosome Location	chr5:76115172-76115173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76113078..76116046-chr5:76145704..76148210,2	K562	blood:

Variant related genes	Relation type
ENSG00000171643	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs2227819	1.00[ASN][1000 genomes]
rs2243018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460498	1.00[ASW][hapmap]
rs59233748	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs636150	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs639342	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453267	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1015997	chr5:76079720-76129241	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1031491	chr5:76083382-76129241	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2763908	chr5:76083394-76134777	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv598683	chr5:76086597-76129053	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1022431	chr5:76086795-76127170	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1020397	chr5:76086795-76129241	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv598684	chr5:76086795-76130113	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1025151	chr5:76086795-76134777	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1025061	chr5:76087544-76129241	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1033086	chr5:76088861-76129241	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1021460	chr5:76089512-76129241	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1018194	chr5:76090951-76129241	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv598685	chr5:76092225-76128521	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv882211	chr5:76100536-76125577	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs686868	CBR3	trans	lymphoblastoid	seeQTL
rs686868	NSA2	cis	cerebellum	SCAN
rs686868	POLK	cis	cerebellum	SCAN
rs686868	F2RL1	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76114000-76115200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr5:76114000-76116000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:76114000-76116200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:76114000-76117000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:76114200-76115400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr5:76114200-76116000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
7	chr5:76114200-76116000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:76114200-76116200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:76114200-76116400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr5:76114200-76116800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr5:76114200-76116800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:76114200-76117000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:76114200-76117400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:76114400-76115200	Active TSS	Placenta Amnion	Placenta Amnion
15	chr5:76114400-76115200	Flanking Bivalent TSS/Enh	Thymus	Thymus
16	chr5:76114400-76115200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
17	chr5:76114400-76115400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
18	chr5:76114400-76115400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr5:76114400-76115600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:76114400-76115600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:76114400-76115600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
22	chr5:76114400-76115600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
23	chr5:76114400-76115800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:76114400-76115800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
25	chr5:76114400-76115800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr5:76114400-76115800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr5:76114400-76116000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr5:76114400-76116000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:76114400-76116000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr5:76114400-76116200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:76114400-76116200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:76114400-76116200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:76114400-76116200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr5:76114400-76116200	Active TSS	Gastric	stomach
35	chr5:76114400-76116400	Flanking Active TSS	Liver	Liver
36	chr5:76114400-76117000	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr5:76114600-76115200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:76114600-76115200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr5:76114600-76115200	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr5:76114600-76115200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:76114600-76115200	Bivalent Enhancer	Fetal Brain Male	brain
42	chr5:76114600-76115200	Bivalent Enhancer	Fetal Heart	heart
43	chr5:76114600-76115400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:76114600-76115400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:76114600-76115400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:76114600-76115400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr5:76114600-76115400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
48	chr5:76114600-76115400	Flanking Active TSS	Lung	lung
49	chr5:76114600-76115400	Bivalent/Poised TSS	Ovary	ovary
50	chr5:76114600-76115400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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