Variant report

Variant	rs3014995
Chromosome Location	chr12:68312487-68312488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68307323..68311643-chr12:68312148..68315840,4	K562	blood:
2	chr12:68306230..68308010-chr12:68310665..68313391,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10878692	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176928	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176942	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424607	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104520	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17104521	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930117	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930119	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs741289	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68305600-68313000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:68305800-68312600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:68307600-68318800	Weak transcription	Fetal Heart	heart
4	chr12:68310000-68317600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:68310400-68313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:68310400-68313400	Weak transcription	Stomach Mucosa	stomach
7	chr12:68310400-68319000	Weak transcription	Left Ventricle	heart
8	chr12:68310600-68313200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:68310600-68313200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:68310600-68313600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:68310600-68313800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:68310600-68317000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:68310600-68317400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:68310600-68318200	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:68310600-68329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:68310800-68313000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:68310800-68313000	Weak transcription	HSMM	muscle
18	chr12:68310800-68313400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:68310800-68313800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:68310800-68313800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:68310800-68313800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:68310800-68313800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:68310800-68313800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:68311000-68313400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:68311200-68313600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:68311400-68313000	Enhancers	NHEK	skin
27	chr12:68311400-68314000	Enhancers	NHDF-Ad	bronchial
28	chr12:68312000-68313000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:68312000-68317000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:68312200-68315000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:68312200-68315800	Enhancers	HSMMtube	muscle
32	chr12:68312400-68312800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:68312400-68313800	Enhancers	HMEC	breast
34	chr12:68312400-68316200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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