Variant report

Variant	rs73417683
Chromosome Location	chr12:122614436-122614437
allele	C/T
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	RCOR1	chr12:122614200-122616643	IMR90	lung:	n/a	n/a
2	POLR2A	chr12:122614331-122614665	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122612652..122615876-chr12:122685490..122688136,3	K562	blood:
2	chr12:122614284..122615813-chr12:122686761..122688798,2	MCF-7	breast:
3	chr12:122353848..122356586-chr12:122614343..122616936,2	MCF-7	breast:

Variant related genes	Relation type
MLXIP	TF binding region
ENSG00000158023	Chromatin interaction
ENSG00000176383	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56408328	0.80[AFR][1000 genomes]
rs57575365	0.84[AFR][1000 genomes]
rs60827901	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122608200-122618800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:122608200-122618800	Weak transcription	GM12878-XiMat	blood
4	chr12:122608400-122625400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:122608600-122632800	Strong transcription	Fetal Stomach	stomach
6	chr12:122610000-122615400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:122610000-122617400	Strong transcription	Primary B cells from cord blood	blood
8	chr12:122610000-122621800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:122610200-122619600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:122610200-122629200	Strong transcription	Primary T cells from cord blood	blood
11	chr12:122610200-122629200	Strong transcription	Fetal Thymus	thymus
12	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:122610600-122629200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:122610600-122629400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:122610600-122633200	Weak transcription	Right Atrium	heart
17	chr12:122610800-122628800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:122610800-122630600	Strong transcription	Thymus	Thymus
19	chr12:122611000-122616200	Strong transcription	K562	blood
20	chr12:122611200-122616000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr12:122611200-122620600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:122611200-122620800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:122611200-122626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:122611200-122630400	Strong transcription	Gastric	stomach
25	chr12:122611400-122614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:122611400-122615000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:122611400-122618600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:122611400-122628800	Strong transcription	Pancreas	Pancrea
29	chr12:122611400-122629800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:122611400-122630400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:122611600-122621200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:122611600-122629000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:122611600-122630000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:122611600-122630600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:122611800-122614600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:122611800-122614600	Strong transcription	Lung	lung
37	chr12:122611800-122615200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:122611800-122615400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:122611800-122615600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:122611800-122616400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:122611800-122620800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:122611800-122620800	Strong transcription	Brain Germinal Matrix	brain
43	chr12:122611800-122621000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:122611800-122622000	Strong transcription	Placenta	Placenta
45	chr12:122611800-122624200	Strong transcription	Fetal Intestine Large	intestine
46	chr12:122611800-122624200	Strong transcription	Dnd41	blood
47	chr12:122611800-122624400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:122611800-122626400	Strong transcription	Spleen	Spleen
49	chr12:122611800-122628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:122611800-122628800	Strong transcription	Fetal Lung	lung

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