Variant report

Variant	rs7460645
Chromosome Location	chr8:131074024-131074025
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	chr8:131067228..131068888-chr8:131073301..131075173,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10091313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10113410	0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10956511	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs11774690	0.80[CHB][hapmap]
rs11775292	0.80[CHB][hapmap];0.86[CHD][hapmap]
rs11780495	0.80[JPT][hapmap]
rs12546206	0.80[CHB][hapmap];0.89[CHD][hapmap]
rs12677193	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs13269464	1.00[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1563165	0.81[CHD][hapmap]
rs17212137	0.80[CHB][hapmap]
rs17282526	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs1902016	0.80[JPT][hapmap]
rs2045092	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]
rs2123870	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2305513	0.93[ASW][hapmap];0.82[CEU][hapmap];0.85[CHB][hapmap];0.84[GIH][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs2395988	0.86[ASW][hapmap];0.85[GIH][hapmap];0.80[JPT][hapmap]
rs2554373	1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2554374	0.93[ASW][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]
rs2670884	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2894508	0.80[CHB][hapmap]
rs3935174	0.80[CHB][hapmap]
rs4733568	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4733764	0.88[ASN][1000 genomes]
rs4733768	0.80[CHB][hapmap];0.81[CHD][hapmap]
rs4733776	0.80[CHB][hapmap]
rs6470796	0.96[ASN][1000 genomes]
rs6470797	0.98[ASN][1000 genomes]
rs6470799	0.88[ASN][1000 genomes]
rs6470800	1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs6470802	0.81[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6470805	0.84[CHD][hapmap]
rs6991975	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs6992305	1.00[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs6996422	0.88[ASN][1000 genomes]
rs7003309	0.83[CHD][hapmap]
rs7004884	0.86[CHD][hapmap]
rs7015970	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs7386417	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7464885	0.80[CHB][hapmap];0.81[CHD][hapmap]
rs7816255	0.89[ASN][1000 genomes]
rs7832651	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs7833007	1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs7834461	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs7837226	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs7846376	0.86[CHD][hapmap]
rs966185	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131058800-131074200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:131061200-131074600	Weak transcription	Psoas Muscle	Psoas
3	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:131062600-131074800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr8:131063600-131082800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:131063800-131074200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:131064200-131074600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr8:131064200-131075000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:131066400-131098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:131066600-131078400	Strong transcription	Brain Germinal Matrix	brain
13	chr8:131066800-131082800	Strong transcription	Fetal Stomach	stomach
14	chr8:131067800-131075800	Weak transcription	Small Intestine	intestine
15	chr8:131068800-131095400	Weak transcription	Fetal Kidney	kidney
16	chr8:131069200-131075400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:131069200-131075400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:131070200-131074200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:131070200-131074200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:131070200-131086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:131070400-131074200	Weak transcription	Brain Substantia Nigra	brain
22	chr8:131070400-131074200	Genic enhancers	NHEK	skin
23	chr8:131070400-131089600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:131070400-131090800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:131070400-131101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:131070600-131074200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:131070600-131074200	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:131070600-131095800	Weak transcription	Colonic Mucosa	Colon
29	chr8:131071000-131075600	Weak transcription	K562	blood
30	chr8:131071200-131074400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:131071200-131074400	Weak transcription	Fetal Brain Male	brain
32	chr8:131071200-131074800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:131071800-131074600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:131073000-131074200	Weak transcription	Liver	Liver
35	chr8:131073000-131074600	Weak transcription	Esophagus	oesophagus
36	chr8:131073000-131074600	Enhancers	NHDF-Ad	bronchial
37	chr8:131073000-131074800	Weak transcription	Primary T cells from cord blood	blood
38	chr8:131073000-131076000	Weak transcription	Primary B cells from cord blood	blood
39	chr8:131073000-131087000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:131073200-131074200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:131073200-131074200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:131073200-131074200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:131073200-131074200	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:131073200-131074200	Genic enhancers	NHLF	lung
45	chr8:131073200-131074400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:131073200-131074400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:131073200-131074600	Weak transcription	Aorta	Aorta
48	chr8:131073200-131075600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr8:131073200-131075600	Weak transcription	Spleen	Spleen
50	chr8:131073200-131075600	Weak transcription	Dnd41	blood

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