Variant report

Variant	rs861811
Chromosome Location	chr22:22060445-22060446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22056000..22058204-chr22:22060369..22062797,2	MCF-7	breast:
2	chr22:22053845..22056535-chr22:22060286..22062132,2	MCF-7	breast:
3	chr22:22059649..22068854-chr22:22288884..22299619,22	K562	blood:

Variant related genes	Relation type
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10427813	1.00[ASN][1000 genomes]
rs1103229	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1647705	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1647711	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1669119	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1669123	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17759598	1.00[ASN][1000 genomes]
rs17759796	1.00[ASN][1000 genomes]
rs17821327	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821500	1.00[ASN][1000 genomes]
rs2019746	0.91[EUR][1000 genomes]
rs2845458	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28721456	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876980	1.00[ASN][1000 genomes]
rs55649326	1.00[ASN][1000 genomes]
rs5999842	1.00[ASN][1000 genomes]
rs61757982	1.00[ASN][1000 genomes]
rs61763381	1.00[ASN][1000 genomes]
rs61763388	1.00[ASN][1000 genomes]
rs710171	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710176	1.00[ASN][1000 genomes]
rs717121	1.00[ASN][1000 genomes]
rs73149918	1.00[ASN][1000 genomes]
rs73149929	1.00[ASN][1000 genomes]
rs8135758	1.00[ASN][1000 genomes]
rs8136405	1.00[ASN][1000 genomes]
rs8139395	1.00[ASN][1000 genomes]
rs8140233	1.00[ASN][1000 genomes]
rs8142650	1.00[ASN][1000 genomes]
rs861818	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861821	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861823	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs861825	0.85[EUR][1000 genomes]
rs861828	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861829	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861831	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861832	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861833	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861840	1.00[ASN][1000 genomes]
rs861841	1.00[ASN][1000 genomes]
rs861844	1.00[ASN][1000 genomes]
rs861845	1.00[ASN][1000 genomes]
rs861846	1.00[ASN][1000 genomes]
rs861856	1.00[ASN][1000 genomes]
rs881091	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9607194	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
9	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
10	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
11	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
12	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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 target site	25 gene(s)	inside rSNPs	diseases
13	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
2	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
3	chr22:22034600-22065400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:22044400-22067400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:22045800-22066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:22050800-22064000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr22:22051400-22067400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr22:22051800-22064000	Weak transcription	NHEK	skin
9	chr22:22052000-22070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:22052200-22063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:22052200-22067600	Weak transcription	GM12878-XiMat	blood
12	chr22:22052400-22067400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr22:22052400-22067400	Weak transcription	Fetal Intestine Large	intestine
14	chr22:22053200-22067400	Weak transcription	Colon Smooth Muscle	Colon
15	chr22:22053400-22066000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:22053400-22067200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr22:22053400-22067200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:22053400-22068200	Weak transcription	Psoas Muscle	Psoas
19	chr22:22053600-22061200	Strong transcription	Fetal Stomach	stomach
20	chr22:22053600-22062000	Weak transcription	HSMM	muscle
21	chr22:22053600-22062000	Weak transcription	Osteobl	bone
22	chr22:22053600-22064000	Weak transcription	Esophagus	oesophagus
23	chr22:22053600-22065600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:22053600-22067200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:22053600-22067400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr22:22053600-22067600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
28	chr22:22053800-22062000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:22053800-22062000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:22053800-22065800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:22053800-22067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:22053800-22067600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr22:22054200-22067200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:22054200-22067200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:22054200-22067400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr22:22054200-22067600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr22:22054200-22067800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr22:22054600-22066400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr22:22055200-22066600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:22055800-22061200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr22:22055800-22067400	Weak transcription	NH-A	brain
42	chr22:22056000-22067200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr22:22056000-22080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr22:22056200-22061600	Weak transcription	Left Ventricle	heart
45	chr22:22056200-22064000	Weak transcription	Fetal Kidney	kidney
46	chr22:22056200-22067800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr22:22056200-22068600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr22:22056200-22069000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:22056400-22063400	Weak transcription	Adipose Nuclei	Adipose
50	chr22:22056400-22064000	Weak transcription	Fetal Brain Male	brain

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