Variant report

Variant	rs58512333
Chromosome Location	chr12:118466214-118466215
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	chr12:118453440..118456018-chr12:118464200..118466334,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111445	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs5745861	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5745862	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5745866	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5745873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5745879	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5745890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

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	nsv560388	chr12:118391600-118482352	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58512333	RFC5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118455200-118472800	Weak transcription	Right Atrium	heart
2	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:118455600-118490200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:118455800-118469600	Weak transcription	Fetal Brain Male	brain
5	chr12:118455800-118471800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:118455800-118476000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:118455800-118485000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:118455800-118490000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:118456000-118478000	Weak transcription	Fetal Heart	heart
10	chr12:118456000-118482800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:118456000-118484600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:118456000-118490200	Strong transcription	Fetal Stomach	stomach
13	chr12:118456200-118471000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:118456200-118472400	Strong transcription	A549	lung
15	chr12:118456200-118484000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:118456200-118484200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:118456200-118484600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:118456200-118490000	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:118456200-118490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:118456200-118490400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:118456400-118472200	Weak transcription	Stomach Mucosa	stomach
22	chr12:118456400-118489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:118456400-118491000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:118456600-118477400	Strong transcription	Fetal Thymus	thymus
25	chr12:118456600-118482800	Strong transcription	Primary T cells from cord blood	blood
26	chr12:118456600-118489800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:118456800-118471800	Strong transcription	Liver	Liver
28	chr12:118456800-118473000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:118456800-118474400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:118456800-118482000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr12:118456800-118484000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:118456800-118489400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:118456800-118489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:118457000-118472800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:118457000-118482600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:118457000-118482800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:118457000-118482800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:118457000-118484600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:118457000-118488200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:118457000-118489600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr12:118457200-118483000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:118457200-118491400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:118457600-118482400	Strong transcription	Thymus	Thymus
44	chr12:118458000-118471600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:118458200-118481600	Strong transcription	Dnd41	blood
46	chr12:118459800-118491000	Strong transcription	Fetal Brain Female	brain
47	chr12:118461000-118469800	Strong transcription	K562	blood
48	chr12:118462200-118473000	Strong transcription	Lung	lung
49	chr12:118462200-118488400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:118462400-118471400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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