Variant report

Variant	rs7959649
Chromosome Location	chr12:67783108-67783109
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:10)

rs_ID	r²[population]
rs1143758	0.90[JPT][hapmap]
rs1920436	0.92[ASN][1000 genomes]
rs2870938	0.94[ASN][1000 genomes]
rs4143175	0.95[ASN][1000 genomes]
rs6581753	0.96[ASN][1000 genomes]
rs6581756	0.82[ASN][1000 genomes]
rs7310645	0.96[ASN][1000 genomes]
rs7316350	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs775648	0.82[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs775659	0.90[JPT][hapmap]

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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67781400-67783400	Enhancers	Fetal Thymus	thymus
2	chr12:67781400-67784400	Enhancers	Fetal Muscle Leg	muscle
3	chr12:67781600-67784200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:67781800-67783400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:67781800-67783400	Enhancers	Dnd41	blood
6	chr12:67781800-67784200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:67782000-67783200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:67782000-67783200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:67782200-67783200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:67782200-67783400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:67782400-67783200	Enhancers	Fetal Kidney	kidney
12	chr12:67782400-67783400	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:67782400-67783800	Enhancers	Fetal Muscle Trunk	muscle
14	chr12:67782600-67783600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:67782600-67784000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:67782600-67788400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:67782800-67784400	Weak transcription	Fetal Intestine Large	intestine
18	chr12:67782800-67787600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:67782800-67787800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:67783000-67784400	Weak transcription	Fetal Intestine Small	intestine
21	chr12:67783000-67784400	Weak transcription	Psoas Muscle	Psoas
22	chr12:67783000-67785000	Weak transcription	HSMMtube	muscle
23	chr12:67783000-67786600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:67783000-67788000	Weak transcription	NHEK	skin

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