Variant report

Variant	rs73122694
Chromosome Location	chr12:64207551-64207552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73122698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73122700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124639	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64174800-64208000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:64174800-64208000	Weak transcription	Fetal Brain Male	brain
3	chr12:64174800-64208600	Weak transcription	Fetal Brain Female	brain
4	chr12:64175600-64208000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:64178000-64209800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:64178600-64208400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:64182000-64208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:64185000-64207800	Weak transcription	NH-A	brain
9	chr12:64185200-64207800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:64189400-64215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:64200000-64208800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:64200200-64208200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:64200400-64211800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:64200800-64208000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:64201000-64208200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:64201000-64215600	Weak transcription	Gastric	stomach
17	chr12:64201200-64207800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:64201400-64208400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:64202000-64208600	Weak transcription	Fetal Stomach	stomach
20	chr12:64202200-64207600	Weak transcription	GM12878-XiMat	blood
21	chr12:64202200-64207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:64202200-64208200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:64202200-64215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:64202600-64208200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:64202600-64209400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:64202800-64215600	Weak transcription	Pancreas	Pancrea
27	chr12:64203000-64208000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:64203000-64208400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:64203200-64207800	Weak transcription	Primary T cells from cord blood	blood
30	chr12:64203200-64208200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:64203400-64207600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:64203400-64208200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:64203400-64215800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:64203600-64208000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:64203600-64208000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:64203800-64207800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:64203800-64208200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:64203800-64209400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:64203800-64215400	Weak transcription	Fetal Thymus	thymus
40	chr12:64204000-64209600	Weak transcription	Thymus	Thymus
41	chr12:64205800-64208200	Weak transcription	A549	lung
42	chr12:64205800-64209400	Weak transcription	HepG2	liver
43	chr12:64206200-64208200	Weak transcription	Liver	Liver
44	chr12:64206800-64207600	Weak transcription	Brain Germinal Matrix	brain
45	chr12:64206800-64210200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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