Variant report

Variant	rs73917122
Chromosome Location	chr2:11905020-11905021
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	MAX	chr2:11904523-11905090	MCF-7	breast:	n/a	n/a
2	EP300	chr2:11904265-11906727	SK-N-SH	brain:	n/a	chr2:11904815-11904829
3	MXI1	chr2:11904319-11905508	SK-N-SH	brain:	n/a	chr2:11904978-11904987
4	PBX3	chr2:11904432-11905028	SK-N-SH	brain:	n/a	chr2:11904956-11904965
5	SIN3AK20	chr2:11904322-11905192	MCF-7	breast:	n/a	n/a
6	SIN3AK20	chr2:11904444-11905067	MCF-7	breast:	n/a	n/a
7	TCF12	chr2:11904572-11905052	SK-N-SH	brain:	n/a	chr2:11904715-11904722 chr2:11904977-11904987
8	GATA2	chr2:11904452-11905355	SH-SY5Y	brain:	n/a	n/a
9	PBX3	chr2:11904536-11905028	SK-N-SH	brain:	n/a	chr2:11904956-11904965

No.	Distal block	Cell Line	Cell type
1	chr2:11887777..11889810-chr2:11903193..11905347,2	K562	blood:
2	chr2:11902752..11905515-chr2:11914841..11917001,2	K562	blood:
3	chr2:11901357..11903016-chr2:11903554..11905723,2	MCF-7	breast:

Variant related genes	Relation type
MIR548S	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55936623	1.00[AMR][1000 genomes]
rs59614513	1.00[AMR][1000 genomes]
rs73917120	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917856	1.00[AMR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11888400-11916400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:11890400-11906400	Weak transcription	Fetal Brain Male	brain
3	chr2:11890600-11905800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:11893800-11906400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:11895000-11905400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:11895000-11905800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:11895000-11905800	Weak transcription	HSMMtube	muscle
8	chr2:11895000-11905800	Weak transcription	NH-A	brain
9	chr2:11895000-11905800	Weak transcription	Osteobl	bone
10	chr2:11895000-11906000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:11895000-11906200	Weak transcription	HSMM	muscle
12	chr2:11895000-11907000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:11895000-11918200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:11895600-11905600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:11895800-11905600	Weak transcription	NHDF-Ad	bronchial
16	chr2:11895800-11905800	Weak transcription	Spleen	Spleen
17	chr2:11897400-11905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:11897600-11909000	Weak transcription	Psoas Muscle	Psoas
19	chr2:11898600-11906000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:11899200-11905200	Weak transcription	Thymus	Thymus
21	chr2:11899200-11905400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:11899200-11906000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:11899200-11911200	Weak transcription	Small Intestine	intestine
24	chr2:11899400-11905600	Weak transcription	Placenta	Placenta
25	chr2:11900600-11908800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:11900600-11918000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:11900800-11905200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:11900800-11912200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:11901000-11905400	Weak transcription	Brain Germinal Matrix	brain
30	chr2:11901000-11905400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:11901200-11909000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:11901200-11915000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:11901400-11905600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:11901600-11905800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:11901600-11914200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:11901800-11914000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:11901800-11918600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:11902000-11905400	Enhancers	Fetal Heart	heart
39	chr2:11902000-11905800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:11902200-11905600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:11902200-11905600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:11902200-11905800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:11902200-11906600	Weak transcription	Fetal Kidney	kidney
44	chr2:11902200-11913800	Strong transcription	NHLF	lung
45	chr2:11902600-11905200	Enhancers	Right Ventricle	heart
46	chr2:11902800-11905400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:11902800-11905400	Enhancers	Right Atrium	heart
48	chr2:11902800-11906000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:11902800-11906000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:11902800-11912200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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