Variant report

Variant	rs9619126
Chromosome Location	chr22:31007292-31007293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr22:31007245-31007379	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31005486..31007786-chr22:31009641..31011900,2	MCF-7	breast:
2	chr22:31005874..31007539-chr22:31009444..31010957,2	MCF-7	breast:
3	chr22:30937061..30938844-chr22:31006811..31008918,2	K562	blood:

Variant related genes	Relation type
PES1	TF binding region
TCN2	TF binding region
ENSG00000185339	Chromatin interaction
ENSG00000225774	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12166405	1.00[AMR][1000 genomes]
rs12169435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs42942	0.87[AMR][1000 genomes]
rs55866375	1.00[EUR][1000 genomes]
rs60815431	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs67153574	0.92[EUR][1000 genomes]
rs7289904	0.92[EUR][1000 genomes]
rs73170819	0.92[EUR][1000 genomes]
rs8136373	0.92[EUR][1000 genomes]
rs8138797	0.84[EUR][1000 genomes]
rs9306263	0.86[AFR][1000 genomes]
rs9621036	1.00[AMR][1000 genomes]
rs9621039	1.00[AMR][1000 genomes]
rs9621053	0.92[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	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
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31003800-31007600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr22:31003800-31009800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:31003800-31030600	Weak transcription	Thymus	Thymus
5	chr22:31004200-31013400	Weak transcription	Pancreas	Pancrea
6	chr22:31004400-31008400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:31004400-31008600	Weak transcription	Fetal Brain Female	brain
8	chr22:31004400-31009800	Weak transcription	Fetal Lung	lung
9	chr22:31004400-31020200	Weak transcription	Fetal Kidney	kidney
10	chr22:31004600-31009800	Weak transcription	Brain Anterior Caudate	brain
11	chr22:31005000-31008600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:31005000-31022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:31005400-31009800	Weak transcription	Gastric	stomach
14	chr22:31005600-31012200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:31005800-31007600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:31005800-31008800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:31006000-31007800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:31006000-31008400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:31006000-31008800	Weak transcription	Right Ventricle	heart
20	chr22:31006000-31009400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:31006000-31009800	Weak transcription	Esophagus	oesophagus
22	chr22:31006000-31010000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:31006000-31010200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:31006000-31019200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr22:31006000-31020800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr22:31006000-31023200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:31006000-31023200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
31	chr22:31006200-31009600	Weak transcription	Ovary	ovary
32	chr22:31006200-31009600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:31006200-31010000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:31006200-31017400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:31006200-31017400	Strong transcription	Fetal Stomach	stomach
36	chr22:31006200-31019400	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr22:31006200-31023800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:31006400-31007600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:31006400-31007600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr22:31006400-31008000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:31006400-31008600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr22:31006400-31009200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:31006400-31009600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr22:31006400-31013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr22:31006400-31015000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:31006400-31017000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr22:31006400-31023000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr22:31006400-31023200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:31006400-31023400	Strong transcription	Fetal Intestine Small	intestine

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