Variant report

Variant	rs7224713
Chromosome Location	chr17:19822176-19822177
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:133869109..133871241-chr17:19821449..19823085,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs16960545	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960602	1.00[EUR][1000 genomes]
rs281366	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs281367	1.00[ASN][1000 genomes]
rs28424266	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28581607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28653561	1.00[EUR][1000 genomes]
rs28767032	1.00[EUR][1000 genomes]
rs28865331	1.00[EUR][1000 genomes]
rs6587207	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs6587211	1.00[ASN][1000 genomes]
rs7207459	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs7215639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218251	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219487	1.00[ASN][1000 genomes]
rs7224419	1.00[EUR][1000 genomes]
rs7224567	1.00[EUR][1000 genomes]
rs7224875	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs8065122	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8068015	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068488	1.00[EUR][1000 genomes]
rs8071670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079093	1.00[EUR][1000 genomes]
rs8079487	1.00[EUR][1000 genomes]
rs8080190	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs9889938	1.00[EUR][1000 genomes]
rs9890105	1.00[ASN][1000 genomes]
rs9892271	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893296	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9894666	1.00[EUR][1000 genomes]
rs9895556	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9896499	1.00[EUR][1000 genomes]
rs9896633	1.00[EUR][1000 genomes]
rs9896641	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9898618	1.00[EUR][1000 genomes]
rs9900510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9902663	1.00[EUR][1000 genomes]
rs9903631	1.00[EUR][1000 genomes]
rs9904059	1.00[EUR][1000 genomes]
rs9908415	1.00[EUR][1000 genomes]
rs9911408	1.00[EUR][1000 genomes]
rs9911872	1.00[EUR][1000 genomes]
rs9912184	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9912648	1.00[EUR][1000 genomes]
rs9913858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914502	1.00[ASN][1000 genomes]
rs9915039	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs9915413	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19802800-19824000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:19802800-19829000	Strong transcription	Fetal Muscle Leg	muscle
3	chr17:19802800-19844400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:19802800-19846400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:19802800-19852400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr17:19803000-19824400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr17:19803000-19851800	Strong transcription	Fetal Thymus	thymus
8	chr17:19803200-19840800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:19803600-19826200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:19803600-19829800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:19803600-19845400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:19803600-19848000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:19803800-19822400	Strong transcription	Primary T cells from cord blood	blood
14	chr17:19803800-19823400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr17:19803800-19824000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:19803800-19830800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr17:19804000-19823600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:19804000-19844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr17:19804000-19853000	Strong transcription	Dnd41	blood
20	chr17:19805600-19823800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr17:19805800-19824000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:19806200-19844000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr17:19806200-19844600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr17:19806400-19830200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:19806400-19846200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr17:19807000-19825800	Strong transcription	Placenta	Placenta
27	chr17:19807200-19823400	Strong transcription	Thymus	Thymus
28	chr17:19807800-19843800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:19808000-19823600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr17:19808200-19828400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:19808400-19823000	Strong transcription	Brain Hippocampus Middle	brain
32	chr17:19808400-19823000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr17:19808400-19823800	Strong transcription	Fetal Lung	lung
34	chr17:19809200-19824000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:19809200-19832200	Weak transcription	Fetal Brain Male	brain
36	chr17:19809400-19837400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr17:19809800-19828000	Weak transcription	K562	blood
38	chr17:19810000-19830800	Strong transcription	Adipose Nuclei	Adipose
39	chr17:19810200-19826200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr17:19810200-19826400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr17:19810200-19836600	Weak transcription	Fetal Heart	heart
42	chr17:19811000-19823400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:19811200-19824000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr17:19811600-19823200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:19811800-19834800	Weak transcription	Small Intestine	intestine
46	chr17:19812200-19845400	Strong transcription	Liver	Liver
47	chr17:19813200-19827200	Weak transcription	Colonic Mucosa	Colon
48	chr17:19813200-19828000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr17:19813200-19833800	Weak transcription	Pancreas	Pancrea
50	chr17:19813600-19822600	Weak transcription	Psoas Muscle	Psoas

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