Variant report

Variant	rs6981573
Chromosome Location	chr8:8821318-8821319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13259143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2288671	0.90[MEX][hapmap]
rs3948398	0.96[ASN][1000 genomes]
rs4841077	0.92[CEU][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6987558	0.90[MEX][hapmap]
rs6994163	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6981573	FLJ10661	cis	cerebellum	SCAN
rs6981573	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs6981573	MFHAS1	cis	cerebellum	SCAN
rs6981573	RP11-62H7.2	cis	Thyroid	GTEx
rs6981573	PPP1R3B	cis	cerebellum	SCAN
rs6981573	TDH	cis	cerebellum	SCAN
rs6981573	CTSB	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8811000-8836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:8817800-8827600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:8820200-8821600	Enhancers	Stomach Mucosa	stomach
4	chr8:8820600-8821400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:8820600-8821400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:8820600-8821400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:8820600-8821400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
11	chr8:8820600-8821400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr8:8820600-8821400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr8:8820600-8821400	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr8:8820600-8821400	Flanking Active TSS	Ovary	ovary
16	chr8:8820600-8821400	Bivalent/Poised TSS	NHDF-Ad	bronchial
17	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	NHEK	skin
18	chr8:8820600-8821600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:8820600-8821600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:8820600-8821600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
21	chr8:8820600-8821600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:8820600-8821600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:8820600-8821600	Bivalent Enhancer	Fetal Brain Male	brain
24	chr8:8820600-8821600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr8:8820600-8821800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:8820800-8821400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:8820800-8821400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr8:8820800-8821400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:8820800-8821400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr8:8820800-8821400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr8:8820800-8821400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:8820800-8821400	Flanking Active TSS	Liver	Liver
33	chr8:8820800-8821400	Active TSS	Brain Cingulate Gyrus	brain
34	chr8:8820800-8821400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:8820800-8821400	Flanking Active TSS	Colonic Mucosa	Colon
36	chr8:8820800-8821400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
37	chr8:8820800-8821400	Active TSS	Fetal Intestine Large	intestine
38	chr8:8820800-8821400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr8:8820800-8821400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr8:8820800-8821400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:8820800-8821400	Active TSS	Right Atrium	heart
42	chr8:8820800-8821400	Active TSS	Right Ventricle	heart
43	chr8:8820800-8821600	Active TSS	H9 Cell Line	embryonic stem cell
44	chr8:8820800-8821600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr8:8820800-8821600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr8:8820800-8821600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:8820800-8821600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
48	chr8:8820800-8821600	Active TSS	Brain Angular Gyrus	brain
49	chr8:8820800-8821600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr8:8820800-8821600	Active TSS	Fetal Kidney	kidney

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