Variant report

Variant	rs131666
Chromosome Location	chr22:21923719-21923720
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21922090..21924831-chr5:33485334..33486835,3	K562	blood:
2	chr22:21920647..21924218-chr22:21994881..21998096,5	MCF-7	breast:
3	chr22:21757262..21759399-chr22:21922328..21924805,2	K562	blood:
4	chr1:8268048..8269728-chr22:21922125..21923933,2	MCF-7	breast:
5	chr22:21920727..21924429-chr22:22006455..22008474,3	MCF-7	breast:
6	chr20:49546476..49548738-chr22:21921516..21923782,2	K562	blood:
7	chr22:21921535..21923886-chr22:21982326..21985629,8	MCF-7	breast:
8	chr22:21922720..21924374-chr22:21936117..21937710,2	MCF-7	breast:
9	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259456	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000227634	Chromatin interaction
ENSG00000273342	Chromatin interaction
ENSG00000101126	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000161180	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11704601	1.00[AFR][1000 genomes]
rs11705259	1.00[AFR][1000 genomes]
rs181364	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs181365	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34592211	1.00[AFR][1000 genomes]
rs35113423	1.00[AFR][1000 genomes]
rs35844718	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs372108	1.00[AFR][1000 genomes]
rs3747091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs388113	1.00[AFR][1000 genomes]
rs390720	1.00[AFR][1000 genomes]
rs391324	1.00[AFR][1000 genomes]
rs394073	1.00[AFR][1000 genomes]
rs402225	1.00[AFR][1000 genomes]
rs428595	1.00[AFR][1000 genomes]
rs436570	1.00[AFR][1000 genomes]
rs443845	1.00[AFR][1000 genomes]
rs451422	1.00[AFR][1000 genomes]
rs452649	1.00[AFR][1000 genomes]
rs459265	1.00[AFR][1000 genomes]
rs57965798	1.00[AFR][1000 genomes]
rs710169	1.00[AFR][1000 genomes]
rs71314788	1.00[AFR][1000 genomes]
rs861819	1.00[AFR][1000 genomes]
rs861822	1.00[AFR][1000 genomes]
rs9609947	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1797853	chr22:21445008-21927194	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1065383	chr22:21462233-21929649	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv1815888	chr22:21486890-21947822	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv1801244	chr22:21509361-21924072	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1065490	chr22:21567219-21949226	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1056096	chr22:21567219-21951562	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv1825387	chr22:21609069-21932052	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	esv1829198	chr22:21618311-21928852	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv1830853	chr22:21657204-21932252	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1797475	chr22:21683210-21950089	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	esv1816994	chr22:21683210-21950089	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	esv1824349	chr22:21683210-21950089	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	esv1826188	chr22:21683210-21950089	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	esv1851345	chr22:21683210-21950089	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv428386	chr22:21683210-21950089	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
16	esv1844701	chr22:21699366-21928852	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	esv1850694	chr22:21710291-21926222	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
18	esv1813971	chr22:21711706-21924058	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	esv1807804	chr22:21726851-21928852	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
20	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
21	nsv834145	chr22:21775069-21950089	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
22	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers 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	374 gene(s)	inside rSNPs	diseases
23	nsv1064360	chr22:21809185-21951562	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
24	nsv1067125	chr22:21815854-21927890	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1060781	chr22:21815854-21929649	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
26	esv3408427	chr22:21920977-21923825	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21921600-21923800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr22:21921600-21923800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr22:21921600-21923800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr22:21921600-21923800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr22:21921600-21923800	Active TSS	GM12878-XiMat	blood
6	chr22:21921600-21924000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr22:21921600-21924200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr22:21921800-21923800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr22:21921800-21923800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr22:21921800-21923800	Active TSS	Muscle Satellite Cultured Cells	--
11	chr22:21921800-21923800	Active TSS	Ovary	ovary
12	chr22:21921800-21923800	Active TSS	Psoas Muscle	Psoas
13	chr22:21921800-21923800	Active TSS	A549	lung
14	chr22:21921800-21923800	Active TSS	HSMM	muscle
15	chr22:21921800-21924000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr22:21922000-21923800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr22:21922000-21923800	Active TSS	Fetal Intestine Small	intestine
18	chr22:21922400-21923800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:21922400-21926000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:21922600-21923800	Flanking Active TSS	Colonic Mucosa	Colon
21	chr22:21922600-21924000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr22:21922600-21924000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr22:21922600-21924200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr22:21922600-21924200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr22:21922600-21924400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr22:21922600-21924400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr22:21922600-21925000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:21922600-21925000	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr22:21922600-21925800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr22:21922800-21924200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr22:21922800-21924200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr22:21922800-21924600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr22:21922800-21925000	Enhancers	Spleen	Spleen
34	chr22:21923000-21923800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:21923000-21923800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr22:21923000-21923800	Flanking Active TSS	Thymus	Thymus
37	chr22:21923000-21924000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:21923000-21924200	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr22:21923000-21924200	Flanking Active TSS	Fetal Brain Male	brain
40	chr22:21923000-21924400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:21923000-21924400	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr22:21923000-21924600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:21923000-21924600	Flanking Active TSS	Osteobl	bone
44	chr22:21923000-21925000	Flanking Active TSS	HUVEC	blood vessel
45	chr22:21923000-21925600	Transcr. at gene 5' and 3'	K562	blood
46	chr22:21923200-21923800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:21923200-21923800	Weak transcription	Gastric	stomach
48	chr22:21923200-21924200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:21923200-21924200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:21923200-21924400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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