Variant report

Variant	rs9625628
Chromosome Location	chr22:29283151-29283152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29280624..29284164-chr22:29307760..29311501,3	MCF-7	breast:
2	chr22:29277392..29281683-chr22:29281887..29284497,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16986814	1.00[EUR][1000 genomes]
rs2881637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752820	0.87[EUR][1000 genomes]
rs5752830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752839	0.85[EUR][1000 genomes]
rs5762873	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5762876	1.00[ASN][1000 genomes]
rs5762890	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762891	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762893	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762895	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762900	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762906	0.85[EUR][1000 genomes]
rs5762907	0.87[EUR][1000 genomes]
rs7286026	0.87[EUR][1000 genomes]
rs7288513	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7290364	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73388860	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8137589	0.90[EUR][1000 genomes]
rs9306461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625613	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9625621	1.00[EUR][1000 genomes]
rs9625622	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625640	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625641	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9625645	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625647	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29280600-29283600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:29281000-29287600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr22:29281200-29287400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:29281200-29288000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:29281400-29283200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr22:29281400-29285600	Weak transcription	Ovary	ovary
7	chr22:29281400-29287200	Weak transcription	Left Ventricle	heart
8	chr22:29281400-29287400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:29281400-29287400	Weak transcription	Psoas Muscle	Psoas
10	chr22:29281400-29288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:29281400-29288000	Weak transcription	Lung	lung
12	chr22:29281400-29290400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:29281400-29290400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:29281400-29290400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr22:29281400-29290400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr22:29281400-29294600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr22:29281400-29295200	Weak transcription	Brain Hippocampus Middle	brain
18	chr22:29281600-29284000	Enhancers	Fetal Intestine Small	intestine
19	chr22:29281600-29284600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr22:29281600-29292600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:29281800-29283800	Weak transcription	Fetal Brain Female	brain
22	chr22:29281800-29284200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr22:29281800-29284400	Enhancers	Fetal Intestine Large	intestine
24	chr22:29282000-29283200	Weak transcription	Fetal Brain Male	brain
25	chr22:29282000-29283200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:29282000-29283800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:29282000-29284000	Enhancers	Stomach Mucosa	stomach
28	chr22:29282000-29284200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr22:29282000-29290400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr22:29282000-29291400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr22:29282200-29283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr22:29282200-29283200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr22:29282200-29283200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr22:29282200-29283200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:29282200-29283200	Weak transcription	Brain Angular Gyrus	brain
36	chr22:29282200-29283400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr22:29282200-29283400	Enhancers	Aorta	Aorta
38	chr22:29282200-29284000	Weak transcription	Adipose Nuclei	Adipose
39	chr22:29282200-29284200	Flanking Active TSS	HepG2	liver
40	chr22:29282200-29284600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:29282200-29284600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr22:29282200-29284800	Enhancers	Liver	Liver
43	chr22:29282200-29285400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:29282200-29287000	Weak transcription	Fetal Heart	heart
45	chr22:29282200-29287400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr22:29282200-29287600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr22:29282200-29287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:29282200-29288000	Weak transcription	Right Ventricle	heart
49	chr22:29282200-29288200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:29282200-29290400	Weak transcription	H9 Cell Line	embryonic stem cell

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