Variant report

Variant	rs17135196
Chromosome Location	chr7:102039696-102039697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102039108..102041457-chr7:102072250..102073986,2	MCF-7	breast:
2	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
3	chr7:102038531..102040134-chr7:102059494..102061568,2	MCF-7	breast:
4	chr7:102035400..102038391-chr7:102038531..102040962,3	MCF-7	breast:
5	chr7:102035208..102038207-chr7:102038260..102040994,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160999	Chromatin interaction
ENSG00000128563	Chromatin interaction
ENSG00000160991	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10229440	0.91[ASN][1000 genomes]
rs1134521	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12672177	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2950183	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3823656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4584084	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55823933	0.91[ASN][1000 genomes]
rs55893391	0.90[ASN][1000 genomes]
rs55953136	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56411810	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62482947	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62482951	0.91[ASN][1000 genomes]
rs62482952	0.91[ASN][1000 genomes]
rs62482953	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62483800	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6958346	0.89[ASN][1000 genomes]
rs712844	0.86[ASN][1000 genomes]
rs811680	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17135196	PILRB	cis	parietal	SCAN
rs17135196	PILRA	cis	parietal	SCAN
rs17135196	PDAP1	cis	parietal	SCAN
rs17135196	FBXO24	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102037600-102043600	Weak transcription	Aorta	Aorta
2	chr7:102037800-102039800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:102037800-102039800	Weak transcription	Lung	lung
4	chr7:102037800-102044000	Weak transcription	Esophagus	oesophagus
5	chr7:102037800-102044800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:102037800-102045200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:102037800-102051400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:102038000-102039800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:102038000-102039800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:102038000-102039800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:102038000-102039800	Weak transcription	Brain Angular Gyrus	brain
12	chr7:102038000-102039800	Weak transcription	Brain Germinal Matrix	brain
13	chr7:102038000-102039800	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:102038000-102039800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:102038000-102039800	Weak transcription	Ovary	ovary
16	chr7:102038000-102039800	Weak transcription	Pancreas	Pancrea
17	chr7:102038000-102039800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:102038000-102039800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:102038000-102039800	Weak transcription	HUVEC	blood vessel
20	chr7:102038000-102039800	Weak transcription	NHDF-Ad	bronchial
21	chr7:102038000-102040000	Weak transcription	Right Ventricle	heart
22	chr7:102038000-102041600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:102038000-102042400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:102038000-102044800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:102038000-102045800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:102038000-102046200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:102038000-102046400	Weak transcription	Fetal Heart	heart
28	chr7:102038000-102046400	Weak transcription	Small Intestine	intestine
29	chr7:102038000-102048000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:102038000-102048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:102038000-102049800	Weak transcription	Psoas Muscle	Psoas
32	chr7:102038000-102066800	Weak transcription	Stomach Mucosa	stomach
33	chr7:102038200-102039800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:102038200-102039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:102038200-102039800	Weak transcription	Left Ventricle	heart
36	chr7:102038200-102039800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:102038200-102040800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:102038200-102042400	Weak transcription	Brain Substantia Nigra	brain
39	chr7:102038200-102048200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:102038400-102041800	Strong transcription	K562	blood
41	chr7:102038400-102049800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:102038400-102055600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:102038600-102039800	Weak transcription	Adipose Nuclei	Adipose
44	chr7:102038600-102039800	Weak transcription	HepG2	liver
45	chr7:102038600-102041200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:102038600-102044800	Strong transcription	Fetal Thymus	thymus
47	chr7:102038600-102048000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:102038600-102048200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:102038600-102049800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:102038800-102039800	Weak transcription	Colon Smooth Muscle	Colon

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