Variant report

Variant	rs12628395
Chromosome Location	chr22:30280450-30280451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30229506..30231085-chr22:30279535..30281040,2	MCF-7	breast:
2	chr22:30208243..30210090-chr22:30279066..30280884,2	MCF-7	breast:
3	chr22:30280125..30281940-chr22:30289079..30291294,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10222281	0.83[ASN][1000 genomes]
rs10483156	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090584	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11090591	0.83[ASN][1000 genomes]
rs11703553	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11703815	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11704885	0.83[ASN][1000 genomes]
rs11705191	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11705207	0.83[ASN][1000 genomes]
rs11705418	0.83[ASN][1000 genomes]
rs12165769	0.83[ASN][1000 genomes]
rs12166087	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166755	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12169823	0.83[ASN][1000 genomes]
rs12330076	0.83[ASN][1000 genomes]
rs12627856	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17644868	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17644886	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17647135	0.83[ASN][1000 genomes]
rs17713646	0.83[ASN][1000 genomes]
rs28520101	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28635872	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34647160	0.83[ASN][1000 genomes]
rs3747148	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788418	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788425	0.83[ASN][1000 genomes]
rs7285169	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs737905	0.83[ASN][1000 genomes]
rs737906	0.83[ASN][1000 genomes]
rs737907	0.83[ASN][1000 genomes]
rs9620928	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620929	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620935	0.83[ASN][1000 genomes]
rs9620936	0.83[ASN][1000 genomes]
rs9625883	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625886	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625887	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625889	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625894	0.83[ASN][1000 genomes]
rs9625895	0.83[ASN][1000 genomes]
rs9625896	0.83[ASN][1000 genomes]
rs9625899	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1833221	chr22:30274129-30297376	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv829161	chr22:30276811-30298332	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv829162	chr22:30276811-30298761	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv11554	chr22:30280400-30298271	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30278600-30280600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr22:30278600-30280600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:30278600-30280600	Active TSS	Fetal Brain Female	brain
4	chr22:30278600-30281400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr22:30278800-30280600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr22:30278800-30280600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:30278800-30280600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:30278800-30280600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr22:30278800-30280600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr22:30278800-30280600	Active TSS	Brain Substantia Nigra	brain
11	chr22:30278800-30280600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr22:30278800-30280600	Active TSS	Fetal Muscle Trunk	muscle
13	chr22:30278800-30280600	Active TSS	Psoas Muscle	Psoas
14	chr22:30278800-30280600	Active TSS	Right Atrium	heart
15	chr22:30278800-30280600	Active TSS	Hela-S3	cervix
16	chr22:30278800-30280600	Active TSS	NHLF	lung
17	chr22:30278800-30280600	Active TSS	Osteobl	bone
18	chr22:30278800-30280800	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr22:30278800-30280800	Active TSS	HepG2	liver
20	chr22:30278800-30280800	Active TSS	HMEC	breast
21	chr22:30278800-30280800	Active TSS	HSMM	muscle
22	chr22:30278800-30281000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr22:30278800-30281200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:30278800-30281200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr22:30278800-30281200	Active TSS	Stomach Smooth Muscle	stomach
26	chr22:30278800-30282200	Active TSS	GM12878-XiMat	blood
27	chr22:30279000-30280600	Active TSS	Colonic Mucosa	Colon
28	chr22:30279000-30280600	Active TSS	Duodenum Mucosa	Duodenum
29	chr22:30279000-30280800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:30279000-30280800	Active TSS	Right Ventricle	heart
31	chr22:30279000-30280800	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr22:30279000-30281000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:30279000-30281200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:30279200-30280600	Active TSS	Fetal Intestine Small	intestine
35	chr22:30279200-30280600	Active TSS	NHDF-Ad	bronchial
36	chr22:30279600-30282400	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr22:30279800-30280600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr22:30279800-30280600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:30279800-30280600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:30279800-30280600	Flanking Active TSS	HUVEC	blood vessel
41	chr22:30279800-30280800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr22:30279800-30281200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:30280000-30280600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr22:30280000-30280600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr22:30280000-30280600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr22:30280000-30280600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:30280000-30280600	Weak transcription	Spleen	Spleen
48	chr22:30280000-30280800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:30280000-30280800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:30280000-30280800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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