Variant report

Variant	rs58811447
Chromosome Location	chr12:105627610-105627611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
2	chr12:105599435..105602379-chr12:105626303..105628956,2	K562	blood:
3	chr12:105620755..105625323-chr12:105625745..105629848,5	K562	blood:
4	chr12:105609511..105612358-chr12:105625566..105629291,3	K562	blood:

Variant related genes	Relation type
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56877961	1.00[AMR][1000 genomes]
rs57725386	1.00[AMR][1000 genomes]
rs59078353	1.00[AMR][1000 genomes]
rs59308959	1.00[AMR][1000 genomes]
rs60594465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60785893	1.00[AMR][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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105605600-105628400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:105609200-105628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:105611200-105628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:105616600-105629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:105617000-105629000	Weak transcription	Esophagus	oesophagus
6	chr12:105617400-105629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:105621800-105628600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:105621800-105628600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:105622000-105629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:105622400-105628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:105622600-105627800	Weak transcription	HMEC	breast
12	chr12:105622800-105628400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:105623000-105628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:105623200-105627800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:105623200-105627800	Weak transcription	Fetal Thymus	thymus
16	chr12:105623200-105628000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:105623400-105628600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:105623600-105628800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:105625000-105628800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:105625000-105628800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:105625200-105628000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:105625200-105628000	Enhancers	Right Ventricle	heart
23	chr12:105625400-105627800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:105625400-105628200	Enhancers	Fetal Heart	heart
25	chr12:105625600-105628000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:105625600-105628000	Active TSS	Right Atrium	heart
27	chr12:105625600-105628000	Weak transcription	NHEK	skin
28	chr12:105625600-105628600	Weak transcription	Placenta	Placenta
29	chr12:105625600-105629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:105625600-105629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:105625800-105628600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:105625800-105628600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:105626000-105628000	Enhancers	Fetal Intestine Large	intestine
34	chr12:105626000-105628000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:105626000-105628200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:105626200-105627800	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:105626200-105627800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:105626200-105628000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:105626200-105628200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:105626200-105628200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:105626200-105628200	Enhancers	Fetal Brain Male	brain
42	chr12:105626200-105628800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr12:105626400-105628800	Enhancers	Primary B cells from cord blood	blood
44	chr12:105626400-105629400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:105626600-105627800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:105626600-105627800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:105626600-105628000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr12:105626600-105628000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr12:105626600-105628000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:105626600-105628000	Enhancers	Psoas Muscle	Psoas

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