Variant report

Variant	rs7960630
Chromosome Location	chr12:32939603-32939604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10844358	0.84[YRI][hapmap]
rs10844365	0.80[YRI][hapmap]
rs12228193	0.81[YRI][hapmap]
rs3907042	0.81[YRI][hapmap]
rs6488084	0.80[EUR][1000 genomes]
rs7133291	0.81[YRI][hapmap]
rs9394	0.87[CEU][hapmap];0.83[TSI][hapmap]

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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1851844	chr12:32929596-32953032	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island	1 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	chr12:32929400-32942200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:32929600-32941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:32929800-32941200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:32929800-32941600	Weak transcription	Fetal Intestine Small	intestine
5	chr12:32931400-32942200	Weak transcription	Left Ventricle	heart
6	chr12:32933200-32944800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:32934000-32944000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:32934200-32945200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:32936200-32948800	Weak transcription	Fetal Stomach	stomach
10	chr12:32936400-32947000	Weak transcription	Fetal Heart	heart
11	chr12:32937400-32945400	Weak transcription	NHEK	skin
12	chr12:32938000-32942000	Weak transcription	Liver	Liver
13	chr12:32938200-32942000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:32938600-32948600	Weak transcription	Gastric	stomach
15	chr12:32938600-32952200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:32938800-32945000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:32938800-32950600	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:32939000-32940800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:32939000-32944800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:32939200-32955200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:32939400-32945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:32939600-32940400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:32939600-32944800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:32939600-32945000	Weak transcription	Fetal Intestine Large	intestine

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