Variant report

Variant	rs60418472
Chromosome Location	chr12:49821929-49821930
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49758664..49761238-chr12:49820859..49823092,2	K562	blood:
2	chr12:49760202..49762803-chr12:49821694..49823885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4993294	0.82[AFR][1000 genomes]
rs56322609	1.00[AFR][1000 genomes]
rs57202083	1.00[AFR][1000 genomes]
rs61375453	0.98[AFR][1000 genomes]
rs74088737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74089508	1.00[AFR][1000 genomes]
rs74089512	1.00[AFR][1000 genomes]
rs74089515	1.00[AFR][1000 genomes]
rs74089517	0.98[AFR][1000 genomes]
rs74089520	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49764200-49840200	Weak transcription	Fetal Lung	lung
2	chr12:49764400-49822200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:49766600-49822200	Weak transcription	NH-A	brain
4	chr12:49788000-49822600	Weak transcription	HUVEC	blood vessel
5	chr12:49792800-49822000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:49798400-49856000	Weak transcription	Primary T cells from cord blood	blood
7	chr12:49798600-49822600	Weak transcription	Fetal Thymus	thymus
8	chr12:49798600-49840000	Weak transcription	Hela-S3	cervix
9	chr12:49807800-49822200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:49807800-49822600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:49807800-49822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:49808200-49822400	Weak transcription	NHEK	skin
13	chr12:49810800-49831400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:49812200-49822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:49812600-49829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:49812600-49849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:49812800-49822600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:49813000-49822000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:49813000-49822000	Weak transcription	HSMM	muscle
20	chr12:49813000-49822600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:49813400-49822600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:49813600-49822600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:49813800-49822200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:49814000-49822600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:49815200-49822600	Weak transcription	Brain Germinal Matrix	brain
26	chr12:49816000-49848800	Weak transcription	Fetal Kidney	kidney
27	chr12:49816200-49833000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:49816600-49822600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:49816600-49826400	Weak transcription	Small Intestine	intestine
30	chr12:49817000-49822600	Weak transcription	K562	blood
31	chr12:49817400-49827800	Weak transcription	Fetal Brain Female	brain
32	chr12:49817600-49832400	Weak transcription	HepG2	liver
33	chr12:49818400-49822000	Weak transcription	NHLF	lung
34	chr12:49818400-49822200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:49819600-49828600	Weak transcription	Fetal Intestine Small	intestine
36	chr12:49820000-49822600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:49820000-49825200	Weak transcription	Fetal Stomach	stomach
38	chr12:49820000-49828400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:49820200-49822200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:49820200-49822600	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:49820200-49822600	Weak transcription	Osteobl	bone
42	chr12:49820200-49822800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:49820200-49828600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:49820400-49822000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:49820400-49822000	Weak transcription	A549	lung
46	chr12:49820400-49822200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:49820400-49822400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:49820400-49825600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:49820400-49826400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:49820400-49854400	Weak transcription	Dnd41	blood

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