Variant report

Variant	rs5999126
Chromosome Location	chr22:22057254-22057255
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22056044..22058146-chr22:22337310..22338854,2	K562	blood:
2	chr22:22055923..22058133-chr22:22298564..22300939,2	K562	blood:
3	chr22:22056000..22058204-chr22:22060369..22062797,2	MCF-7	breast:
4	chr22:22056257..22058152-chr22:22092441..22095055,2	K562	blood:
5	chr22:22050871..22057964-chr22:22289460..22296191,13	K562	blood:
6	chr22:22053644..22055613-chr22:22055957..22058510,3	MCF-7	breast:
7	chr22:22056555..22059346-chr22:22088717..22090824,2	MCF-7	breast:
8	chr19:10223737..10225641-chr22:22055584..22057943,2	K562	blood:
9	chr22:22055612..22059819-chr22:22080444..22082478,4	K562	blood:
10	chr22:22051539..22057555-chr22:22289579..22294556,10	K562	blood:
11	chr22:22054580..22057543-chr22:22499227..22501364,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100027	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10427709	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10427723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34861942	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55836932	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56692226	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57234214	1.00[AMR][1000 genomes]
rs58732342	1.00[AMR][1000 genomes]
rs59613531	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73877636	1.00[AMR][1000 genomes]
rs73877655	1.00[AMR][1000 genomes]
rs73877663	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73877665	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73877666	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73877669	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73877672	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73877681	1.00[AMR][1000 genomes]
rs9968029	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
9	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
10	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
11	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
12	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
13	nsv191511	chr22:22052566-22058785	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	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
15	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22031400-22058400	Strong transcription	Fetal Intestine Small	intestine
2	chr22:22031600-22058400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
4	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
5	chr22:22034600-22058600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr22:22034600-22059800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:22034600-22065400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:22035200-22057800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr22:22035200-22060000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:22044400-22067400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr22:22045800-22060000	Strong transcription	Fetal Brain Female	brain
12	chr22:22045800-22066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:22047200-22057600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:22047400-22057800	Strong transcription	Brain Cingulate Gyrus	brain
15	chr22:22047400-22060000	Strong transcription	Dnd41	blood
16	chr22:22047400-22060400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr22:22047600-22058200	Strong transcription	Brain Hippocampus Middle	brain
18	chr22:22047600-22059000	Strong transcription	Brain Anterior Caudate	brain
19	chr22:22047600-22059200	Strong transcription	Brain Germinal Matrix	brain
20	chr22:22047800-22058200	Strong transcription	Ovary	ovary
21	chr22:22050800-22064000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr22:22051400-22067400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr22:22051800-22064000	Weak transcription	NHEK	skin
24	chr22:22052000-22057400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr22:22052000-22070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:22052200-22058400	Weak transcription	Colonic Mucosa	Colon
27	chr22:22052200-22063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:22052200-22067600	Weak transcription	GM12878-XiMat	blood
29	chr22:22052400-22067400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr22:22052400-22067400	Weak transcription	Fetal Intestine Large	intestine
31	chr22:22053200-22067400	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:22053400-22057600	Strong transcription	Brain Angular Gyrus	brain
33	chr22:22053400-22058600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:22053400-22059200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr22:22053400-22066000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:22053400-22067200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr22:22053400-22067200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:22053400-22068200	Weak transcription	Psoas Muscle	Psoas
39	chr22:22053600-22057800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr22:22053600-22057800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:22053600-22058400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr22:22053600-22061200	Strong transcription	Fetal Stomach	stomach
43	chr22:22053600-22062000	Weak transcription	HSMM	muscle
44	chr22:22053600-22062000	Weak transcription	Osteobl	bone
45	chr22:22053600-22064000	Weak transcription	Esophagus	oesophagus
46	chr22:22053600-22065600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:22053600-22067200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:22053600-22067400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr22:22053600-22067600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr22:22053600-22088800	Weak transcription	Aorta	Aorta

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