Variant report

Variant	rs17282526
Chromosome Location	chr8:131207943-131207944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131207362..131209756-chr8:131210863..131213512,2	MCF-7	breast:
2	chr8:131187972..131189783-chr8:131206468..131207978,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10091313	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10113410	0.88[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956511	0.80[CHB][hapmap]
rs10956514	0.82[MEX][hapmap]
rs11774690	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs11774947	0.80[CHB][hapmap]
rs11775292	0.80[CHB][hapmap];0.88[LWK][hapmap];0.87[MEX][hapmap];0.80[MKK][hapmap];0.83[ASN][1000 genomes]
rs11780495	0.80[JPT][hapmap]
rs12546206	0.80[CHB][hapmap]
rs12677193	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs13258946	0.80[CHB][hapmap];0.83[MEX][hapmap]
rs13269464	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1340021	0.83[MEX][hapmap]
rs1538728	0.80[CHB][hapmap]
rs17212137	0.80[CHB][hapmap]
rs1902016	0.80[JPT][hapmap]
rs1978550	0.80[CHB][hapmap]
rs2005040	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2045092	0.93[ASW][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs2123870	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2305513	0.93[ASW][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]
rs2395988	0.87[ASW][hapmap];0.88[GIH][hapmap];0.80[JPT][hapmap]
rs2554373	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2554374	0.93[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs2670884	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2894508	0.80[CHB][hapmap]
rs3935174	0.80[CHB][hapmap]
rs4733568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4733572	0.80[CHB][hapmap]
rs4733764	0.88[ASN][1000 genomes]
rs4733768	0.80[CHB][hapmap]
rs4733776	0.80[CHB][hapmap]
rs4733780	0.80[CHB][hapmap]
rs6470799	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470800	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470802	0.82[ASW][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.89[ASN][1000 genomes]
rs6470815	0.80[CHB][hapmap]
rs6988261	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6991975	0.85[CHB][hapmap]
rs6992305	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6996422	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7014800	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7018225	0.80[CHB][hapmap]
rs7386417	1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs7460645	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs7464885	0.80[CHB][hapmap]
rs7816255	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7832651	0.80[CHB][hapmap]
rs7833007	1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs7834461	0.92[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.91[EUR][1000 genomes]
rs7837226	0.85[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs966185	0.93[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:131179000-131208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:131179200-131208600	Weak transcription	Fetal Brain Female	brain
6	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
7	chr8:131181000-131208600	Weak transcription	Right Ventricle	heart
8	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
9	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
10	chr8:131187800-131209000	Weak transcription	Fetal Stomach	stomach
11	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:131195200-131212400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:131199200-131208600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:131199200-131210600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:131199200-131216800	Weak transcription	Stomach Mucosa	stomach
16	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
17	chr8:131200200-131212600	Weak transcription	Liver	Liver
18	chr8:131200600-131211000	Weak transcription	Adipose Nuclei	Adipose
19	chr8:131200600-131215600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:131200600-131218400	Weak transcription	HepG2	liver
21	chr8:131200600-131224600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:131200600-131224800	Weak transcription	Placenta	Placenta
23	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
24	chr8:131200800-131208600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:131200800-131209200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:131200800-131209200	Weak transcription	Spleen	Spleen
27	chr8:131203200-131208200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:131203400-131208000	Enhancers	HSMM	muscle
29	chr8:131204800-131208200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:131205000-131208000	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:131205000-131208200	Weak transcription	Brain Angular Gyrus	brain
32	chr8:131205000-131208600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:131205200-131215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:131205600-131208400	Enhancers	HMEC	breast
35	chr8:131205800-131208000	Enhancers	Primary T cells from cord blood	blood
36	chr8:131205800-131208000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:131205800-131209200	Enhancers	HUVEC	blood vessel
38	chr8:131205800-131209200	Enhancers	NHEK	skin
39	chr8:131206000-131208000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:131206000-131208000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:131206000-131208000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:131206000-131208000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:131206000-131208200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:131206000-131208200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr8:131206000-131209000	Enhancers	NHLF	lung
46	chr8:131206000-131210000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:131206000-131212200	Enhancers	Brain Substantia Nigra	brain
48	chr8:131206200-131208000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:131206200-131208200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:131206200-131208200	Enhancers	HUES48 Cell Line	embryonic stem cell

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