Variant report

Variant	rs9910451
Chromosome Location	chr17:60097081-60097082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60003692..60006338-chr17:60096728..60098449,3	MCF-7	breast:
2	chr17:60096570..60097369-chr17:60186879..60187390,2	K562	blood:
3	chr17:60080672..60083062-chr17:60094913..60097385,2	MCF-7	breast:
4	chr17:60094652..60097882-chr17:60102443..60104889,3	MCF-7	breast:
5	chr17:60093422..60097278-chr17:60186745..60191637,29	MCF-7	breast:
6	chr17:60094884..60097281-chr17:60186748..60190045,19	MCF-7	breast:
7	chr17:60090504..60092399-chr17:60094678..60097577,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10221202	0.94[ASN][1000 genomes]
rs1045196	0.93[ASN][1000 genomes]
rs10512491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12603878	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap]
rs12937188	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16945670	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap]
rs16945724	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16945762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16945785	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945823	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs28431006	0.81[ASW][hapmap]
rs28500646	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4280312	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7212824	0.81[ASW][hapmap]
rs7224854	0.80[ASN][1000 genomes]
rs72843759	0.80[EUR][1000 genomes]
rs72843762	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843767	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843769	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843770	0.94[ASN][1000 genomes]
rs72843771	0.94[ASN][1000 genomes]
rs72843772	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843775	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72843778	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72843782	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843785	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843788	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843791	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843793	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843797	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72843801	0.82[EUR][1000 genomes]
rs72845403	0.82[EUR][1000 genomes]
rs72845404	0.82[EUR][1000 genomes]
rs72845405	0.82[EUR][1000 genomes]
rs72845406	0.82[EUR][1000 genomes]
rs753765	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap]
rs8080298	0.93[YRI][hapmap]
rs8081200	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs9899780	0.87[ASW][hapmap]
rs9909145	0.81[ASW][hapmap]
rs9913351	0.81[ASW][hapmap]
rs9914605	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
3	chr17:60042800-60105200	Weak transcription	Psoas Muscle	Psoas
4	chr17:60048800-60097600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:60050200-60100800	Weak transcription	Small Intestine	intestine
6	chr17:60060400-60098800	Weak transcription	Gastric	stomach
7	chr17:60060400-60099800	Weak transcription	Aorta	Aorta
8	chr17:60061600-60099600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:60062400-60106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:60069200-60107600	Weak transcription	Spleen	Spleen
11	chr17:60069600-60099000	Weak transcription	Colonic Mucosa	Colon
12	chr17:60072400-60100600	Weak transcription	Right Ventricle	heart
13	chr17:60074600-60123800	Weak transcription	Right Atrium	heart
14	chr17:60075800-60114400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
16	chr17:60077800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr17:60080200-60099000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:60081800-60111600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:60083400-60098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:60084600-60099000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:60086200-60097600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr17:60086400-60097600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr17:60087000-60097400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:60087000-60102200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:60088400-60098800	Weak transcription	Colon Smooth Muscle	Colon
26	chr17:60088400-60099000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr17:60088400-60099200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr17:60088400-60107600	Weak transcription	Pancreas	Pancrea
29	chr17:60088600-60098800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr17:60088600-60099000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr17:60088600-60099000	Weak transcription	Brain Substantia Nigra	brain
32	chr17:60088600-60099000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr17:60088600-60099200	Weak transcription	Lung	lung
34	chr17:60088600-60100000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr17:60088600-60100200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr17:60088600-60100200	Weak transcription	Ovary	ovary
37	chr17:60088600-60100600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:60088600-60100600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:60088600-60100800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr17:60088600-60105200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:60088600-60105400	Weak transcription	Esophagus	oesophagus
42	chr17:60088600-60106800	Weak transcription	Fetal Heart	heart
43	chr17:60088800-60099000	Weak transcription	Primary B cells from cord blood	blood
44	chr17:60088800-60099000	Weak transcription	HSMMtube	muscle
45	chr17:60088800-60099800	Weak transcription	Brain Anterior Caudate	brain
46	chr17:60089200-60099000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr17:60089200-60099600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr17:60089200-60100000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:60089200-60100600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr17:60089400-60099000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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