Variant report

Variant	rs9606763
Chromosome Location	chr22:31062157-31062158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31030552..31033273-chr22:31061698..31065017,4	MCF-7	breast:
2	chr22:31030338..31033016-chr22:31062140..31065480,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100036	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28704032	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs5994330	1.00[EUR][1000 genomes]
rs5997724	1.00[EUR][1000 genomes]
rs5997729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9606757	0.81[EUR][1000 genomes]
rs9606758	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9609018	1.00[AFR][1000 genomes]
rs9609025	1.00[EUR][1000 genomes]
rs9609028	1.00[EUR][1000 genomes]
rs9609030	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9609033	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9609038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31045200-31062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:31045400-31062800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:31045400-31062800	Weak transcription	NH-A	brain
4	chr22:31045600-31062800	Weak transcription	HSMMtube	muscle
5	chr22:31045800-31062200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:31046000-31062200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr22:31046000-31062600	Weak transcription	HMEC	breast
8	chr22:31046000-31062600	Weak transcription	NHLF	lung
9	chr22:31047000-31063000	Weak transcription	Placenta	Placenta
10	chr22:31047000-31063000	Weak transcription	Psoas Muscle	Psoas
11	chr22:31052800-31062600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:31052800-31062800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr22:31052800-31063000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:31053000-31062800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:31053400-31062800	Weak transcription	HSMM	muscle
16	chr22:31054800-31063000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:31058400-31062800	Weak transcription	Brain Angular Gyrus	brain
18	chr22:31058800-31062800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:31059000-31062600	Weak transcription	GM12878-XiMat	blood
20	chr22:31059200-31062600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr22:31059600-31062600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr22:31059600-31062800	Weak transcription	Fetal Thymus	thymus
23	chr22:31059800-31062600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:31059800-31062600	Weak transcription	Fetal Lung	lung
25	chr22:31059800-31062800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:31059800-31063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:31059800-31063000	Weak transcription	Esophagus	oesophagus
28	chr22:31059800-31063000	Weak transcription	Left Ventricle	heart
29	chr22:31060000-31062600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:31060000-31062600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr22:31060000-31062600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr22:31060000-31062600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:31060000-31062600	Weak transcription	Liver	Liver
34	chr22:31060000-31062600	Weak transcription	Brain Substantia Nigra	brain
35	chr22:31060000-31062600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr22:31060000-31062800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr22:31060000-31062800	Weak transcription	Aorta	Aorta
38	chr22:31060000-31062800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr22:31060000-31062800	Weak transcription	A549	lung
40	chr22:31060000-31063000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:31060000-31063000	Weak transcription	Pancreas	Pancrea
42	chr22:31060000-31063200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:31060200-31062600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:31060200-31062600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr22:31060200-31062600	Weak transcription	HUVEC	blood vessel
46	chr22:31060200-31062600	Weak transcription	Osteobl	bone
47	chr22:31060200-31062800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr22:31060200-31063000	Weak transcription	Ovary	ovary
49	chr22:31060200-31063000	Weak transcription	Right Ventricle	heart
50	chr22:31060200-31063200	Weak transcription	Spleen	Spleen

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