Variant report

Variant	rs74060702
Chromosome Location	chr12:11053002-11053003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11042042..11044438-chr12:11050943..11053818,2	K562	blood:
2	chr12:11050516..11052221-chr12:11052659..11054406,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55883403	0.87[AMR][1000 genomes]
rs61355195	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7295252	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7306214	0.87[AMR][1000 genomes]
rs7310666	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060671	0.87[AMR][1000 genomes]
rs74060691	0.87[AMR][1000 genomes]
rs74060692	0.87[AMR][1000 genomes]
rs74062405	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74062407	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74062409	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv898777	chr12:11045512-11129433	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr12:11012200-11055800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr12:11012200-11056200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:11028400-11053400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:11029200-11053200	Weak transcription	Fetal Brain Female	brain
5	chr12:11030600-11053400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:11030600-11053400	Weak transcription	Esophagus	oesophagus
7	chr12:11030600-11054200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:11031000-11053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:11031000-11055000	Weak transcription	Primary B cells from cord blood	blood
10	chr12:11032000-11053800	Weak transcription	Dnd41	blood
11	chr12:11033800-11101600	Weak transcription	Ovary	ovary
12	chr12:11034600-11059000	Weak transcription	Fetal Heart	heart
13	chr12:11034800-11055200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:11039200-11058000	Weak transcription	Aorta	Aorta
15	chr12:11039200-11070200	Weak transcription	Left Ventricle	heart
16	chr12:11043800-11055600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:11045000-11054000	Weak transcription	A549	lung
18	chr12:11045000-11054600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:11051400-11058800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:11051600-11053200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:11052000-11054000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr12:11052200-11055400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:11052800-11054200	Strong transcription	Primary T cells from cord blood	blood
24	chr12:11053000-11053800	ZNF genes & repeats	Fetal Stomach	stomach

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