Variant report

Variant	rs10009
Chromosome Location	chr22:22051709-22051710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22045258..22047594-chr22:22049777..22052096,2	MCF-7	breast:
2	chr22:22051706..22055325-chr22:22218845..22220883,3	K562	blood:
3	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
4	chr22:22020173..22022757-chr22:22050947..22054337,3	MCF-7	breast:
5	chr22:22027702..22029917-chr22:22051466..22054058,2	MCF-7	breast:
6	chr22:22050871..22057964-chr22:22289460..22296191,13	K562	blood:
7	chr22:22051539..22057555-chr22:22289579..22294556,10	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-2	chr22:22051174-22052201	NONHSAT083707
2	lnc-PPIL2-2	chr22:22051174-22052201	NONHSAT083711

No data

Variant related genes	Relation type
ENSG00000224086	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1045681	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs108816	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs11703445	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11705530	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11912412	1.00[ASN][1000 genomes]
rs11914240	0.86[JPT][hapmap]
rs12170039	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16997333	0.86[JPT][hapmap]
rs1811070	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1860	0.92[CEU][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2034570	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2034572	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2070504	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278118	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2840341	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3209602	1.00[ASN][1000 genomes]
rs3747094	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3747095	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788329	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs3804071	0.89[CHB][hapmap]
rs384262	0.89[CEU][hapmap]
rs433704	0.89[CEU][hapmap]
rs4821168	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56387230	0.98[ASN][1000 genomes]
rs62235097	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62235098	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62235099	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62235101	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs710172	0.92[CEU][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7285365	0.86[JPT][hapmap]
rs7285388	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286619	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7291614	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73149915	0.83[AMR][1000 genomes]
rs741617	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8139619	0.86[JPT][hapmap]
rs8142802	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs861812	0.98[ASN][1000 genomes]
rs861813	0.89[CHB][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs915724	0.82[CEU][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription 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	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats 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	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
8	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
9	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised 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 miRNA target site	476 gene(s)	inside rSNPs	diseases
11	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
12	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
13	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
14	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
2	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:22024400-22053200	Strong transcription	Placenta	Placenta
4	chr22:22024800-22052200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:22026600-22054200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr22:22027000-22055800	Weak transcription	Fetal Kidney	kidney
7	chr22:22031400-22058400	Strong transcription	Fetal Intestine Small	intestine
8	chr22:22031600-22058400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:22032000-22052800	Strong transcription	Fetal Stomach	stomach
10	chr22:22032200-22056600	Strong transcription	Primary T cells from cord blood	blood
11	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
12	chr22:22032400-22052400	Strong transcription	Fetal Intestine Large	intestine
13	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
14	chr22:22033800-22052800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr22:22034200-22053000	Strong transcription	Lung	lung
16	chr22:22034400-22053600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr22:22034400-22054600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:22034400-22055800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr22:22034600-22052200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr22:22034600-22053000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:22034600-22058600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr22:22034600-22059800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:22034600-22065400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:22035200-22052200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:22035200-22053400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr22:22035200-22053400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:22035200-22053400	Strong transcription	Liver	Liver
28	chr22:22035200-22054600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr22:22035200-22057800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr22:22035200-22060000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr22:22036200-22051800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:22036400-22054400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:22038600-22053000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:22039400-22056600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr22:22041400-22052000	Strong transcription	Gastric	stomach
36	chr22:22041600-22053000	Strong transcription	K562	blood
37	chr22:22044400-22051800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:22044400-22052200	Strong transcription	Colonic Mucosa	Colon
39	chr22:22044400-22067400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr22:22044800-22052000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr22:22044800-22053800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:22045200-22051800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr22:22045200-22051800	Weak transcription	GM12878-XiMat	blood
44	chr22:22045800-22060000	Strong transcription	Fetal Brain Female	brain
45	chr22:22045800-22066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:22046000-22052000	Strong transcription	Brain Angular Gyrus	brain
47	chr22:22046000-22052200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr22:22046000-22052600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:22047000-22052000	Strong transcription	Esophagus	oesophagus
50	chr22:22047200-22053400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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