Variant report

Variant	rs9904986
Chromosome Location	chr17:15385251-15385252
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	chr17:15371816..15373680-chr17:15385031..15387890,2	MCF-7	breast:
2	chr17:15378837..15380721-chr17:15383271..15386899,3	K562	blood:

Variant related genes	Relation type
ENSG00000239704	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11078306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655100	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11869273	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12709321	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12947500	0.96[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1548681	0.82[CHB][hapmap];0.80[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs16951580	0.94[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.88[ASN][1000 genomes]
rs2323736	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4791624	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs716389	0.82[CHB][hapmap]
rs7209897	0.82[ASN][1000 genomes]
rs7215138	0.83[JPT][hapmap]
rs7215630	0.80[ASN][1000 genomes]
rs7218204	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7219580	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7219850	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8071399	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs880533	0.81[ASN][1000 genomes]
rs9303130	0.85[ASN][1000 genomes]
rs9674557	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9899976	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9901555	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9904490	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9908576	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9915127	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15340600-15399600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:15359200-15404600	Weak transcription	Primary T cells from cord blood	blood
3	chr17:15359400-15386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr17:15361200-15387800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:15361400-15385400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:15367400-15394200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:15368000-15393600	Weak transcription	Aorta	Aorta
8	chr17:15368200-15386800	Weak transcription	Ovary	ovary
9	chr17:15368400-15405400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:15368600-15385600	Weak transcription	Fetal Brain Female	brain
11	chr17:15368800-15394000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:15369000-15393600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:15369000-15401600	Weak transcription	Brain Germinal Matrix	brain
14	chr17:15369200-15405000	Weak transcription	Esophagus	oesophagus
15	chr17:15369600-15386800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:15373200-15393600	Weak transcription	Brain Hippocampus Middle	brain
17	chr17:15373200-15393600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr17:15374600-15386800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr17:15376200-15387800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr17:15376200-15387800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr17:15376200-15387800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:15376200-15388000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr17:15376200-15388000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:15376400-15388000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr17:15376600-15386000	Weak transcription	Fetal Stomach	stomach
26	chr17:15377200-15394200	Weak transcription	Stomach Mucosa	stomach
27	chr17:15377400-15406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr17:15377600-15386600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr17:15377600-15393800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr17:15378800-15391200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr17:15379200-15386000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr17:15379200-15386600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:15379400-15385400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr17:15379400-15387800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr17:15379400-15393600	Weak transcription	HSMMtube	muscle
36	chr17:15379400-15393600	Weak transcription	Osteobl	bone
37	chr17:15379600-15393800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:15380200-15393400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:15382000-15387800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:15382400-15386000	Weak transcription	Lung	lung
41	chr17:15382800-15386600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr17:15382800-15394400	Weak transcription	Spleen	Spleen
43	chr17:15383200-15419600	Weak transcription	Thymus	Thymus
44	chr17:15383400-15386600	Weak transcription	Small Intestine	intestine
45	chr17:15383400-15387600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr17:15383400-15390800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:15383400-15391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:15383400-15393400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:15383400-15393400	Weak transcription	Right Ventricle	heart
50	chr17:15383400-15394000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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