Variant report

Variant	rs5996466
Chromosome Location	chr22:23444216-23444217
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:41381791..41383382-chr22:23441414..23444432,3	MCF-7	breast:
2	chr17:41380296..41383453-chr22:23441412..23444412,4	K562	blood:
3	chr22:23076747..23078948-chr22:23441540..23444445,2	K562	blood:
4	chr22:23441414..23444412-chr3:73159069..73160589,2	K562	blood:
5	chr17:41398816..41402548-chr22:23441414..23444434,6	K562	blood:
6	chr17:41398950..41401960-chr22:23441412..23444434,7	K562	blood:
7	chr1:160080967..160082485-chr22:23441434..23444432,2	K562	blood:

Variant related genes	Relation type
ENSG00000223247	Chromatin interaction
ENSG00000236383	Chromatin interaction
ENSG00000264629	Chromatin interaction
ENSG00000211664	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11702939	1.00[EUR][1000 genomes]
rs11702951	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11702988	1.00[EUR][1000 genomes]
rs11703018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703394	1.00[ASN][1000 genomes]
rs11703410	1.00[EUR][1000 genomes]
rs11703413	1.00[EUR][1000 genomes]
rs11703415	1.00[EUR][1000 genomes]
rs11703459	1.00[ASN][1000 genomes]
rs11703619	1.00[EUR][1000 genomes]
rs11703666	1.00[EUR][1000 genomes]
rs11703839	1.00[ASN][1000 genomes]
rs11704126	1.00[EUR][1000 genomes]
rs11704186	1.00[ASN][1000 genomes]
rs11704645	1.00[EUR][1000 genomes]
rs11704807	1.00[EUR][1000 genomes]
rs11704812	1.00[EUR][1000 genomes]
rs11704834	1.00[EUR][1000 genomes]
rs11705141	1.00[ASN][1000 genomes]
rs11705217	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705526	1.00[EUR][1000 genomes]
rs11705531	1.00[ASN][1000 genomes]
rs11705643	1.00[EUR][1000 genomes]
rs11705661	1.00[EUR][1000 genomes]
rs11705689	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705692	1.00[EUR][1000 genomes]
rs16997431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17853740	1.00[EUR][1000 genomes]
rs41277287	1.00[EUR][1000 genomes]
rs41277289	1.00[EUR][1000 genomes]
rs41311051	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58182042	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5996464	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5996468	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003490	1.00[ASN][1000 genomes]
rs6003506	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003508	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003510	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73384386	1.00[ASN][1000 genomes]
rs8136486	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9624011	1.00[EUR][1000 genomes]
rs9624022	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9624023	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9624027	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803110	chr22:22731758-23497674	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
3	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
4	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
8	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
16	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS 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	92 gene(s)	inside rSNPs	diseases
17	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
18	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
19	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
20	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
22	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
23	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
24	esv34158	chr22:23216762-23499513	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
25	nsv914575	chr22:23399743-23467804	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv914576	chr22:23399743-23469918	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
27	esv1806531	chr22:23400739-23448258	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	nsv544609	chr22:23400739-23455790	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
29	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
30	esv1825944	chr22:23414398-23473840	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
31	nsv544615	chr22:23438844-23453445	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
32	nsv914577	chr22:23439530-23478695	Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
33	nsv3573	chr22:23441543-23485820	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23416000-23452800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:23427800-23447600	Weak transcription	Fetal Intestine Small	intestine
3	chr22:23430600-23448600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:23431000-23444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:23431400-23444400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:23433600-23454400	Weak transcription	Primary B cells from cord blood	blood
7	chr22:23437600-23458000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:23438600-23452600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:23438600-23461800	Enhancers	Brain Substantia Nigra	brain
10	chr22:23438800-23446400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr22:23439000-23446800	Enhancers	Brain Cingulate Gyrus	brain
12	chr22:23439000-23470400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:23439200-23444800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:23439600-23445400	Enhancers	Fetal Muscle Leg	muscle
15	chr22:23439600-23445800	Enhancers	Spleen	Spleen
16	chr22:23439800-23449600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:23439800-23462000	Enhancers	Brain Angular Gyrus	brain
18	chr22:23440200-23445400	Enhancers	Gastric	stomach
19	chr22:23441200-23447400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:23441600-23447600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:23441800-23448400	Weak transcription	HSMMtube	muscle
22	chr22:23441800-23460000	Weak transcription	Fetal Brain Male	brain
23	chr22:23441800-23470600	Weak transcription	Colon Smooth Muscle	Colon
24	chr22:23442000-23444400	Weak transcription	Lung	lung
25	chr22:23442000-23445000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr22:23442200-23449000	Strong transcription	Brain Germinal Matrix	brain
27	chr22:23442400-23446600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr22:23442400-23454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:23442600-23444600	Strong transcription	Fetal Brain Female	brain
30	chr22:23442600-23470600	Weak transcription	Pancreas	Pancrea
31	chr22:23442800-23444600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr22:23442800-23449000	Strong transcription	Right Atrium	heart
33	chr22:23443000-23444600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr22:23443000-23446400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:23443200-23444400	Weak transcription	Brain Anterior Caudate	brain
36	chr22:23443400-23445000	Strong transcription	Fetal Stomach	stomach
37	chr22:23443400-23450000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr22:23443600-23444400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:23443600-23445000	Enhancers	Right Ventricle	heart
40	chr22:23443600-23448200	Weak transcription	Stomach Mucosa	stomach
41	chr22:23443800-23455200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr22:23444000-23445400	Enhancers	Adipose Nuclei	Adipose
43	chr22:23444200-23444400	Enhancers	Placenta	Placenta
44	chr22:23444200-23444600	Weak transcription	Ovary	ovary
45	chr22:23444200-23444800	Enhancers	Left Ventricle	heart
46	chr22:23444200-23445600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr22:23444200-23446800	Weak transcription	HepG2	liver
48	chr22:23444200-23461800	Enhancers	Brain Hippocampus Middle	brain

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