Variant report

Variant	rs9620970
Chromosome Location	chr22:30710598-30710599
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30706784..30711096-chr22:30720189..30724317,4	K562	blood:
2	chr22:30692603..30694692-chr22:30708843..30711257,2	K562	blood:
3	chr22:30710168..30712716-chr22:30726036..30728244,2	MCF-7	breast:
4	chr22:30703263..30705147-chr22:30708532..30711289,2	K562	blood:
5	chr22:30704378..30708150-chr22:30709982..30712337,3	MCF-7	breast:
6	chr22:30698074..30701830-chr22:30707671..30711358,4	K562	blood:
7	chr22:30710430..30716803-chr22:30717996..30724228,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099992	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs5749089	0.84[EUR][1000 genomes]
rs5753103	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763939	0.88[ASN][1000 genomes]
rs5994293	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997602	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs722298	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs737805	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
2	chr22:30697400-30712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30699600-30715600	Weak transcription	Fetal Brain Female	brain
4	chr22:30699800-30711600	Enhancers	Stomach Mucosa	stomach
5	chr22:30700200-30712000	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr22:30700200-30712600	Enhancers	Primary hematopoietic stem cells	blood
7	chr22:30700400-30714400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr22:30700600-30711200	Enhancers	Placenta	Placenta
9	chr22:30702800-30712400	Enhancers	Left Ventricle	heart
10	chr22:30702800-30713000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr22:30702800-30713200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:30702800-30714800	Enhancers	Spleen	Spleen
13	chr22:30703200-30711200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:30704800-30711200	Enhancers	Small Intestine	intestine
15	chr22:30705000-30720400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:30705800-30711200	Enhancers	Brain Substantia Nigra	brain
17	chr22:30706000-30713400	Enhancers	Liver	Liver
18	chr22:30706000-30719400	Genic enhancers	Dnd41	blood
19	chr22:30706200-30720000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr22:30706400-30713000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:30706400-30715400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr22:30706400-30716600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr22:30706600-30711600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr22:30706600-30714200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:30706600-30720400	Genic enhancers	Fetal Thymus	thymus
26	chr22:30706800-30712400	Enhancers	Duodenum Mucosa	Duodenum
27	chr22:30707000-30714400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr22:30707000-30715400	Weak transcription	Brain Germinal Matrix	brain
29	chr22:30707000-30715800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr22:30707400-30715000	Enhancers	Adipose Nuclei	Adipose
31	chr22:30707400-30720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr22:30707600-30711000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:30707600-30711000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr22:30707600-30711600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:30707600-30711800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr22:30707800-30711000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:30707800-30711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr22:30707800-30711000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr22:30707800-30711400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr22:30707800-30712000	Enhancers	NHEK	skin
41	chr22:30707800-30720400	Weak transcription	Fetal Lung	lung
42	chr22:30707800-30720800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:30708000-30710800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr22:30708000-30711400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr22:30708000-30712200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:30708200-30713000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:30708400-30712600	Enhancers	Colon Smooth Muscle	Colon
48	chr22:30708400-30716800	Weak transcription	Psoas Muscle	Psoas
49	chr22:30708600-30715000	Weak transcription	Fetal Heart	heart
50	chr22:30708800-30711000	Weak transcription	Right Ventricle	heart

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