Variant report

Variant	rs2072160
Chromosome Location	chr22:30823113-30823114
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30821810..30824396-chr22:30842591..30845035,2	K562	blood:
2	chr22:30814763..30819112-chr22:30819393..30823307,5	MCF-7	breast:
3	chr22:30803275..30806677-chr22:30820826..30824180,3	MCF-7	breast:
4	chr22:30787202..30787778-chr22:30822213..30823130,2	MCF-7	breast:
5	chr12:57480730..57482980-chr22:30821436..30824082,2	MCF-7	breast:
6	chr22:30684393..30686613-chr22:30820961..30823363,3	MCF-7	breast:
7	chr22:30786785..30787943-chr22:30821846..30823177,6	MCF-7	breast:
8	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
9	chr22:30821818..30823815-chr22:30836918..30838469,2	K562	blood:
10	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166881	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000249590	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000222915	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000166886	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1005835	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1010324	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11089447	0.86[AMR][1000 genomes]
rs11089448	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11089449	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11703867	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11705639	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12171261	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2267154	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2267155	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2267156	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2283870	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2283871	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2299827	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57940170	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5994305	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5994306	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997637	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5997646	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61583714	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7288366	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7289360	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7290317	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9619105	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9620984	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30819400-30823200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr22:30820200-30823200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr22:30820800-30823200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr22:30821600-30823600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr22:30821800-30823600	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr22:30822000-30823200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:30822200-30823200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr22:30822200-30823200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:30822200-30823800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr22:30822400-30823200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:30822400-30826000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:30822400-30834400	Weak transcription	Small Intestine	intestine
13	chr22:30822600-30823200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:30822600-30823200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:30822600-30823200	Enhancers	Placenta	Placenta
16	chr22:30822600-30823200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr22:30822600-30823200	Enhancers	Stomach Mucosa	stomach
18	chr22:30822600-30823200	Enhancers	Thymus	Thymus
19	chr22:30822600-30823200	Enhancers	Spleen	Spleen
20	chr22:30822600-30823400	Enhancers	Lung	lung
21	chr22:30822600-30823600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:30822600-30825600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:30822600-30825600	Weak transcription	Fetal Kidney	kidney
24	chr22:30822600-30827000	Weak transcription	Psoas Muscle	Psoas
25	chr22:30822600-30831600	Weak transcription	Right Atrium	heart
26	chr22:30822600-30832000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:30822800-30823200	Enhancers	Primary B cells from cord blood	blood
28	chr22:30822800-30823200	Enhancers	Primary B cells from peripheral blood	blood
29	chr22:30822800-30823200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:30822800-30823200	Enhancers	Adipose Nuclei	Adipose
31	chr22:30822800-30823200	Enhancers	Gastric	stomach
32	chr22:30822800-30823200	Active TSS	Stomach Smooth Muscle	stomach
33	chr22:30822800-30823200	Genic enhancers	K562	blood
34	chr22:30822800-30823400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:30822800-30823400	Enhancers	Esophagus	oesophagus
36	chr22:30822800-30823400	Enhancers	Fetal Muscle Trunk	muscle
37	chr22:30822800-30823400	Enhancers	Pancreas	Pancrea
38	chr22:30822800-30823600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:30822800-30824000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:30822800-30824200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr22:30822800-30825200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:30822800-30826400	Weak transcription	NHLF	lung
43	chr22:30822800-30828000	Weak transcription	Fetal Intestine Large	intestine
44	chr22:30822800-30828200	Weak transcription	Ovary	ovary
45	chr22:30822800-30831600	Weak transcription	Right Ventricle	heart
46	chr22:30822800-30832000	Weak transcription	Left Ventricle	heart
47	chr22:30823000-30823200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr22:30823000-30823200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:30823000-30823200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:30823000-30823200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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