Variant report

Variant	rs2045092
Chromosome Location	chr8:131075646-131075647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10091313	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10113410	0.88[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10956511	0.82[CHD][hapmap]
rs11775292	0.83[CHD][hapmap]
rs11780495	0.80[JPT][hapmap]
rs12546206	0.86[CHD][hapmap]
rs12677193	0.81[CEU][hapmap];0.80[JPT][hapmap]
rs13269464	0.94[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs17282526	0.93[ASW][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs1902016	0.80[JPT][hapmap]
rs2123870	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2305513	1.00[ASW][hapmap];0.92[CEU][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs2395988	0.93[ASW][hapmap];0.80[JPT][hapmap]
rs2554373	0.94[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs2554374	1.00[ASW][hapmap];0.80[JPT][hapmap]
rs2670884	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4733568	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4733764	0.88[ASN][1000 genomes]
rs6470796	0.96[ASN][1000 genomes]
rs6470797	0.98[ASN][1000 genomes]
rs6470799	0.88[ASN][1000 genomes]
rs6470800	0.94[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs6470802	0.94[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6470805	0.81[CHD][hapmap]
rs6991975	0.92[CEU][hapmap]
rs6992305	0.94[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs6996422	0.88[ASN][1000 genomes]
rs7003309	0.86[CHD][hapmap]
rs7004884	0.88[CHD][hapmap]
rs7015970	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7386417	0.94[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7460645	0.93[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816255	0.89[ASN][1000 genomes]
rs7826083	0.82[EUR][1000 genomes]
rs7832651	0.83[CHD][hapmap]
rs7833007	0.94[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs7834461	0.80[JPT][hapmap]
rs7837226	0.80[JPT][hapmap]
rs7846376	0.88[CHD][hapmap]
rs966185	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	esv1799633	chr8:131039142-131078918	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1851852	chr8:131039142-131078918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:131063600-131082800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131066400-131098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:131066600-131078400	Strong transcription	Brain Germinal Matrix	brain
7	chr8:131066800-131082800	Strong transcription	Fetal Stomach	stomach
8	chr8:131067800-131075800	Weak transcription	Small Intestine	intestine
9	chr8:131068800-131095400	Weak transcription	Fetal Kidney	kidney
10	chr8:131070200-131086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:131070400-131089600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:131070400-131090800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:131070400-131101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:131070600-131095800	Weak transcription	Colonic Mucosa	Colon
15	chr8:131073000-131076000	Weak transcription	Primary B cells from cord blood	blood
16	chr8:131073000-131087000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:131073200-131076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:131073200-131076200	Weak transcription	Gastric	stomach
19	chr8:131073200-131076800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:131073200-131079000	Enhancers	Fetal Thymus	thymus
21	chr8:131073200-131085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:131073200-131086000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:131073200-131087200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:131073200-131087200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:131073400-131075800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:131073400-131075800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:131073400-131076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:131073400-131076000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:131073400-131076000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:131073400-131076000	Weak transcription	Fetal Brain Female	brain
31	chr8:131073400-131082800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:131073400-131086800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:131073400-131087000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:131073600-131075800	Weak transcription	GM12878-XiMat	blood
35	chr8:131073600-131076400	Enhancers	HMEC	breast
36	chr8:131073600-131084800	Weak transcription	Ovary	ovary
37	chr8:131073600-131086600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:131073800-131075800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:131073800-131076000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr8:131073800-131076000	Enhancers	Hela-S3	cervix
41	chr8:131073800-131076400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:131073800-131077000	Genic enhancers	Fetal Muscle Leg	muscle
43	chr8:131074000-131075800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:131074000-131076200	Enhancers	Right Ventricle	heart
45	chr8:131074000-131076400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:131074000-131077000	Enhancers	Right Atrium	heart
47	chr8:131074000-131078400	Enhancers	Thymus	Thymus
48	chr8:131074200-131075800	Enhancers	Colon Smooth Muscle	Colon
49	chr8:131074200-131076000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr8:131074200-131076000	Enhancers	HSMMtube	muscle

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