Variant report

Variant	rs12622422
Chromosome Location	chr2:144987536-144987537
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:144985213..144988142-chr2:145276159..145278049,2	K562	blood:
2	chr2:144973677..144976739-chr2:144985420..144988733,3	K562	blood:
3	chr2:144984610..144988238-chr2:145113704..145117959,3	K562	blood:
4	chr2:144986416..144989107-chr2:144991697..144994219,2	MCF-7	breast:
5	chr2:144964243..144966732-chr2:144985702..144988124,2	K562	blood:
6	chr2:144987319..144988823-chr2:145090215..145092011,2	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction
ENSG00000121964	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1012272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191725	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10496961	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12151646	0.90[EUR][1000 genomes]
rs12620547	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13383062	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13392253	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13432930	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823566	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823569	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823583	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823604	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60152197	0.90[EUR][1000 genomes]
rs62167058	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62167059	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62169169	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62169170	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169171	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62169173	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6708537	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6715658	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6716723	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6725333	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6731750	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6758648	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6758720	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS 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 target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription 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 target site	11 gene(s)	inside rSNPs	diseases
11	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144962600-144998600	Weak transcription	Psoas Muscle	Psoas
2	chr2:144964400-144998200	Weak transcription	Fetal Kidney	kidney
3	chr2:144965400-145010000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:144965600-144992400	Weak transcription	Fetal Stomach	stomach
5	chr2:144974000-144995200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:144974200-144990000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:144977400-144995200	Weak transcription	Left Ventricle	heart
8	chr2:144978400-144991000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:144978400-144991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:144983200-144990200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:144984000-144994600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:144985400-144988200	Weak transcription	NHDF-Ad	bronchial
13	chr2:144985400-144998400	Weak transcription	Small Intestine	intestine
14	chr2:144985600-144990800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:144985800-144987600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:144985800-144987800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:144986800-144988600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:144987000-144987600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:144987000-144987600	Enhancers	K562	blood
20	chr2:144987000-144988200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:144987000-144988200	Enhancers	Osteobl	bone
22	chr2:144987000-144988400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:144987000-144988600	Enhancers	Brain Angular Gyrus	brain
24	chr2:144987000-144988800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:144987000-144988800	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:144987000-144988800	Enhancers	Brain Substantia Nigra	brain
27	chr2:144987000-144989000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:144987000-144989000	Enhancers	Fetal Brain Female	brain
29	chr2:144987000-144992600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:144987200-144987600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:144987200-144988000	Weak transcription	Brain Germinal Matrix	brain
32	chr2:144987200-144988400	Flanking Active TSS	Fetal Brain Male	brain
33	chr2:144987200-144988600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:144987200-144989000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:144987400-144987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:144987400-144987800	Weak transcription	Fetal Lung	lung
37	chr2:144987400-144988400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:144987400-144988600	Enhancers	Brain Hippocampus Middle	brain
39	chr2:144987400-144991800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:144987400-144992200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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