Variant report

Variant	rs1202171
Chromosome Location	chr7:87211045-87211046
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87210807..87212577-chr7:87215009..87216734,2	K562	blood:
2	chr7:87209955..87212813-chr7:87214703..87216908,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10225473	0.88[JPT][hapmap]
rs10244266	0.88[JPT][hapmap]
rs10268314	0.88[JPT][hapmap]
rs10274587	0.88[JPT][hapmap]
rs10276603	0.88[JPT][hapmap]
rs10280101	0.88[JPT][hapmap]
rs10280623	0.93[ASW][hapmap];0.88[JPT][hapmap];0.81[LWK][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs11760837	0.88[JPT][hapmap]
rs11772987	0.88[JPT][hapmap]
rs11979702	0.88[JPT][hapmap]
rs11983225	0.88[JPT][hapmap]
rs1202172	1.00[CEU][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1202173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1202174	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1202175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1202176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1202177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1202179	0.96[CEU][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1202180	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1202181	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1202182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1202185	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1202186	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334183	0.88[JPT][hapmap]
rs12720067	0.88[JPT][hapmap]
rs1882479	0.88[JPT][hapmap]
rs1989829	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989830	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989831	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2032583	0.88[JPT][hapmap]
rs2235015	0.88[JPT][hapmap]
rs2235040	0.88[JPT][hapmap]
rs2235067	0.88[JPT][hapmap]
rs4148739	0.88[JPT][hapmap]
rs4148740	0.82[JPT][hapmap]

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	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1202171	ADAM22	cis	cerebellum	SCAN
rs1202171	GTPBP10	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87144600-87215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:87146200-87228000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:87174600-87219800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:87179600-87212800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:87196000-87211200	Weak transcription	Primary T cells from cord blood	blood
6	chr7:87196600-87213000	Weak transcription	Placenta	Placenta
7	chr7:87199200-87220200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:87199200-87228000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:87200200-87219600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:87203800-87214600	Weak transcription	HepG2	liver
11	chr7:87205400-87215400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:87205400-87219800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:87208200-87215000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:87208400-87215600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:87208600-87215600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:87208800-87217000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:87209200-87213000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:87209200-87214800	Strong transcription	Liver	Liver
19	chr7:87209600-87211600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:87209600-87214600	Strong transcription	Primary hematopoietic stem cells	blood
21	chr7:87209800-87211400	Enhancers	NHEK	skin
22	chr7:87210000-87211600	Enhancers	HMEC	breast
23	chr7:87210200-87211600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:87210400-87215600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:87210800-87211600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:87211000-87212400	Strong transcription	Primary B cells from peripheral blood	blood

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