Variant report

Variant	rs4768702
Chromosome Location	chr12:46792088-46792089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4768699	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4768700	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4768701	0.85[AMR][1000 genomes]
rs4768703	0.89[AMR][1000 genomes]
rs6582636	0.85[AMR][1000 genomes]
rs7134505	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7953450	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46778800-46797200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:46779600-46802800	Weak transcription	Pancreas	Pancrea
3	chr12:46781600-46795400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:46781800-46795000	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:46782000-46794600	Weak transcription	Fetal Kidney	kidney
6	chr12:46782000-46794600	Weak transcription	Placenta	Placenta
7	chr12:46782000-46794600	Weak transcription	Psoas Muscle	Psoas
8	chr12:46782400-46792600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:46782800-46796600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:46783000-46794200	Weak transcription	Thymus	Thymus
11	chr12:46783200-46795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:46783200-46796200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:46783200-46796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:46783200-46796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:46783400-46794600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:46783400-46795000	Weak transcription	Fetal Heart	heart
17	chr12:46783400-46795400	Weak transcription	HSMM	muscle
18	chr12:46783400-46796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:46785000-46796200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:46785200-46793800	Weak transcription	Dnd41	blood
21	chr12:46785200-46794400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:46785200-46795000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:46785200-46796000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:46785400-46795200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:46785600-46794400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:46785600-46796600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:46785800-46796600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:46786600-46796000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:46786800-46794200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:46786800-46794200	Weak transcription	Primary T cells from cord blood	blood
31	chr12:46786800-46794200	Weak transcription	Fetal Thymus	thymus
32	chr12:46786800-46794200	Weak transcription	Osteobl	bone
33	chr12:46786800-46794400	Weak transcription	NHDF-Ad	bronchial
34	chr12:46787000-46795200	Weak transcription	Fetal Lung	lung
35	chr12:46787000-46795400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:46787000-46798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:46787200-46794400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:46787400-46795600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:46787800-46798200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:46788400-46794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:46789200-46795400	Weak transcription	Fetal Brain Male	brain
42	chr12:46789600-46794400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:46789600-46795200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:46789600-46796800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:46789800-46793000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:46789800-46794400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:46789800-46797600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:46790000-46794600	Weak transcription	Fetal Stomach	stomach
49	chr12:46790000-46795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:46790200-46796600	Weak transcription	Primary B cells from cord blood	blood

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