Variant report

Variant	rs5996479
Chromosome Location	chr22:23529395-23529396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23529323..23530010-chr22:23623745..23624699,2	K562	blood:
2	chr22:23519987..23526245-chr22:23526726..23532791,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12157412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12157536	1.00[AMR][1000 genomes]
rs12157941	1.00[AMR][1000 genomes]
rs12158986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12159557	0.92[AFR][1000 genomes]
rs12159793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12160027	1.00[AMR][1000 genomes]
rs12160099	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2330366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996469	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs5996472	1.00[AMR][1000 genomes]
rs5996477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996480	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996484	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003521	1.00[AMR][1000 genomes]
rs6003522	1.00[AMR][1000 genomes]
rs6003523	1.00[AMR][1000 genomes]
rs6003524	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6003526	1.00[AMR][1000 genomes]
rs6003528	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6003530	1.00[AMR][1000 genomes]
rs6003537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003540	1.00[AMR][1000 genomes]
rs6003541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003544	1.00[AFR][1000 genomes]
rs6003545	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003628	1.00[AMR][1000 genomes]
rs9620237	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv1058604	chr22:23497533-23545751	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23525600-23530200	Enhancers	Primary B cells from peripheral blood	blood
2	chr22:23525800-23530200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr22:23525800-23530600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr22:23526000-23529600	Enhancers	Liver	Liver
5	chr22:23526000-23530000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr22:23526000-23530000	Weak transcription	NH-A	brain
7	chr22:23526000-23535200	Weak transcription	Stomach Mucosa	stomach
8	chr22:23526000-23546000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:23526200-23529600	Weak transcription	Small Intestine	intestine
10	chr22:23526200-23529600	Weak transcription	Osteobl	bone
11	chr22:23526200-23529800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:23526200-23530000	Weak transcription	Left Ventricle	heart
13	chr22:23526200-23530000	Weak transcription	NHDF-Ad	bronchial
14	chr22:23526200-23530000	Weak transcription	NHLF	lung
15	chr22:23526200-23530200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr22:23526200-23530200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:23526200-23531000	Enhancers	Adipose Nuclei	Adipose
18	chr22:23526200-23535800	Weak transcription	Aorta	Aorta
19	chr22:23526200-23546800	Weak transcription	Colonic Mucosa	Colon
20	chr22:23526400-23529800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:23526400-23529800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr22:23526400-23530200	Enhancers	Fetal Brain Male	brain
23	chr22:23526400-23535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:23526400-23536000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr22:23526400-23560800	Weak transcription	A549	lung
26	chr22:23526600-23530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:23526800-23530200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:23527000-23530800	Genic enhancers	K562	blood
29	chr22:23527000-23535600	Strong transcription	NHEK	skin
30	chr22:23527000-23536000	Weak transcription	HMEC	breast
31	chr22:23527000-23541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr22:23527000-23547200	Weak transcription	Fetal Kidney	kidney
33	chr22:23527200-23530000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr22:23527200-23530000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr22:23527200-23530000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:23527200-23530000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:23527200-23530200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr22:23527200-23530200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:23527200-23534400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:23527200-23535600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:23527200-23535600	Strong transcription	Fetal Stomach	stomach
42	chr22:23527200-23536000	Weak transcription	HSMM	muscle
43	chr22:23527200-23545400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr22:23527200-23547000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr22:23527400-23529400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr22:23527400-23529400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:23527400-23529400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr22:23527400-23529600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:23527400-23529600	Weak transcription	Fetal Intestine Large	intestine
50	chr22:23527400-23530000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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