Variant report

Variant	rs17170180
Chromosome Location	chr7:33065102-33065103
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	chr7:33062663..33065625-chr7:33067377..33070377,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10228058	0.97[ASN][1000 genomes]
rs10252880	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10265452	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10270155	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12531637	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13227545	0.82[ASN][1000 genomes]
rs1590142	1.00[JPT][hapmap]
rs17170218	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2392215	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2392217	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3088060	0.94[ASN][1000 genomes]
rs34307182	0.83[ASN][1000 genomes]
rs4286846	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs4316067	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4394301	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6462443	0.99[ASN][1000 genomes]
rs6943296	0.83[CHD][hapmap];0.92[JPT][hapmap]

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	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
8	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17170180	FOXP3	trans	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33012600-33077600	Weak transcription	Psoas Muscle	Psoas
2	chr7:33038200-33080800	Weak transcription	Fetal Brain Male	brain
3	chr7:33042600-33083200	Weak transcription	Small Intestine	intestine
4	chr7:33045200-33066800	Weak transcription	HSMMtube	muscle
5	chr7:33049600-33067000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:33051000-33065800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:33051200-33065600	Strong transcription	Dnd41	blood
8	chr7:33051200-33067000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:33051200-33068400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:33051200-33070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:33051400-33066000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:33051400-33067600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:33051800-33066800	Strong transcription	Fetal Intestine Large	intestine
14	chr7:33051800-33067200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:33051800-33069400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:33052000-33067000	Strong transcription	Liver	Liver
17	chr7:33052000-33067400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:33052200-33066800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr7:33052400-33066200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:33052400-33067200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:33052400-33078200	Weak transcription	Fetal Heart	heart
22	chr7:33053400-33065400	Weak transcription	Colonic Mucosa	Colon
23	chr7:33053400-33065600	Weak transcription	Lung	lung
24	chr7:33053400-33068200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:33053400-33068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:33053400-33072400	Weak transcription	NHLF	lung
27	chr7:33053400-33073800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:33053400-33074400	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:33053400-33077600	Weak transcription	Brain Substantia Nigra	brain
30	chr7:33053800-33077400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:33055200-33067600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:33055200-33067800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:33055200-33075800	Weak transcription	Spleen	Spleen
34	chr7:33055200-33078200	Weak transcription	NHEK	skin
35	chr7:33055200-33078400	Weak transcription	HMEC	breast
36	chr7:33055200-33083200	Weak transcription	Fetal Brain Female	brain
37	chr7:33055400-33065600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:33055400-33074200	Weak transcription	NH-A	brain
39	chr7:33055800-33069400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:33056000-33069400	Weak transcription	Aorta	Aorta
41	chr7:33056200-33080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:33056200-33083200	Weak transcription	Gastric	stomach
43	chr7:33056200-33083200	Weak transcription	Pancreas	Pancrea
44	chr7:33056800-33065400	Weak transcription	Left Ventricle	heart
45	chr7:33056800-33078800	Weak transcription	Fetal Kidney	kidney
46	chr7:33057000-33065400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:33057000-33067200	Strong transcription	Primary B cells from cord blood	blood
48	chr7:33057400-33065600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:33057400-33077400	Weak transcription	Brain Anterior Caudate	brain
50	chr7:33057600-33069600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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