Variant report

Variant	rs2514722
Chromosome Location	chr8:118944585-118944586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13265594	0.88[CHD][hapmap];0.89[MEX][hapmap]
rs3101575	0.89[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs3101576	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes]
rs7459527	0.87[CHD][hapmap];0.90[MEX][hapmap]
rs7831208	0.86[CHD][hapmap];0.90[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats 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	chr8:118933200-118946600	Weak transcription	Gastric	stomach
2	chr8:118933600-118945600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:118933600-118945800	Weak transcription	Right Atrium	heart
4	chr8:118933600-118946200	Weak transcription	Ovary	ovary
5	chr8:118933600-118946600	Weak transcription	Brain Germinal Matrix	brain
6	chr8:118933800-118946000	Weak transcription	Fetal Intestine Large	intestine
7	chr8:118935200-118946200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:118935200-118949800	Weak transcription	Psoas Muscle	Psoas
9	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
10	chr8:118938000-118949800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:118938800-118947600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:118939400-118946600	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:118939600-118946200	Weak transcription	Fetal Heart	heart
14	chr8:118940000-118945800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:118940200-118946400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:118940400-118946000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:118940400-118946000	Weak transcription	Fetal Lung	lung
18	chr8:118940600-118944600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:118940600-118944800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:118940600-118944800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:118940600-118946000	Weak transcription	Right Ventricle	heart
22	chr8:118940600-118946200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:118940600-118946400	Weak transcription	Aorta	Aorta
24	chr8:118940600-118949400	Weak transcription	HSMM	muscle
25	chr8:118940800-118946600	Weak transcription	Osteobl	bone
26	chr8:118940800-118949600	Weak transcription	HepG2	liver
27	chr8:118941000-118947800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:118941200-118945600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:118941200-118946200	Weak transcription	NH-A	brain
30	chr8:118941200-118949200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:118941400-118945600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:118941400-118947600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:118941600-118944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:118941600-118946000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:118941800-118945600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:118941800-118945800	Weak transcription	HMEC	breast
37	chr8:118941800-118946000	Weak transcription	NHDF-Ad	bronchial
38	chr8:118941800-118946400	Weak transcription	NHLF	lung
39	chr8:118941800-118946600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:118942000-118945000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:118942000-118945800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:118942000-118946000	Weak transcription	Primary T cells from cord blood	blood
43	chr8:118942000-118946200	Weak transcription	Adipose Nuclei	Adipose
44	chr8:118942000-118946400	Weak transcription	A549	lung
45	chr8:118942000-118946600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:118942000-118946600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:118942400-118947400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:118942400-118947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:118942400-118947800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:118942800-118947600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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