Variant report

Variant	rs9606761
Chromosome Location	chr22:31058193-31058194
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	chr22:31054805..31058867-chr22:31060590..31064602,5	MCF-7	breast:
2	chr22:31057579..31060597-chr22:31088878..31091753,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167065	Chromatin interaction
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11914089	0.91[ASN][1000 genomes]
rs12168004	0.89[ASN][1000 genomes]
rs13433541	0.88[ASN][1000 genomes]
rs16988936	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2013928	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2072195	0.81[ASN][1000 genomes]
rs55844758	0.90[ASN][1000 genomes]
rs5994329	0.95[ASN][1000 genomes]
rs5997719	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5997728	0.98[ASN][1000 genomes]
rs72558391	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8135379	0.88[ASN][1000 genomes]
rs8135450	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9306264	0.88[ASN][1000 genomes]
rs9606762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9619128	0.86[ASN][1000 genomes]
rs9621051	0.88[ASN][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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31033400-31058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr22:31034000-31059400	Weak transcription	Aorta	Aorta
3	chr22:31034200-31058800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr22:31040200-31060800	Weak transcription	Fetal Brain Male	brain
5	chr22:31045200-31062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:31045400-31062800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr22:31045400-31062800	Weak transcription	NH-A	brain
8	chr22:31045600-31058200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr22:31045600-31062800	Weak transcription	HSMMtube	muscle
10	chr22:31045800-31061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:31045800-31062200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr22:31046000-31058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:31046000-31062000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:31046000-31062200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:31046000-31062600	Weak transcription	HMEC	breast
16	chr22:31046000-31062600	Weak transcription	NHLF	lung
17	chr22:31046800-31062000	Weak transcription	Stomach Mucosa	stomach
18	chr22:31047000-31058200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:31047000-31058200	Weak transcription	Right Ventricle	heart
20	chr22:31047000-31058200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr22:31047000-31058600	Weak transcription	Left Ventricle	heart
22	chr22:31047000-31059400	Weak transcription	Pancreas	Pancrea
23	chr22:31047000-31063000	Weak transcription	Placenta	Placenta
24	chr22:31047000-31063000	Weak transcription	Psoas Muscle	Psoas
25	chr22:31047200-31059400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:31047600-31058200	Weak transcription	Primary B cells from cord blood	blood
27	chr22:31049200-31058400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr22:31049200-31058800	Weak transcription	Gastric	stomach
29	chr22:31050000-31059600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:31051000-31061600	Weak transcription	Small Intestine	intestine
31	chr22:31051200-31058200	Weak transcription	Fetal Brain Female	brain
32	chr22:31052200-31059000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:31052400-31058200	Weak transcription	Brain Germinal Matrix	brain
34	chr22:31052400-31059600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:31052400-31060600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr22:31052800-31061400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:31052800-31061600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr22:31052800-31062600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr22:31052800-31062800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr22:31052800-31063000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr22:31053000-31062800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:31053400-31062800	Weak transcription	HSMM	muscle
43	chr22:31053600-31059400	Weak transcription	NHEK	skin
44	chr22:31054000-31058800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr22:31054400-31058200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:31054400-31059200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:31054600-31061200	Strong transcription	Primary T cells from cord blood	blood
48	chr22:31054600-31062000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr22:31054800-31063000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:31055600-31061000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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