Variant report

Variant	rs56144247
Chromosome Location	chr12:32466139-32466140
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	chr12:32415534..32418193-chr12:32465533..32467515,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12321268	0.82[EUR][1000 genomes]
rs191257	0.85[EUR][1000 genomes]
rs28514337	0.82[EUR][1000 genomes]
rs325433	0.88[EUR][1000 genomes]
rs325434	0.88[EUR][1000 genomes]
rs325435	0.85[EUR][1000 genomes]
rs34447944	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385975	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55686847	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56141196	0.88[EUR][1000 genomes]
rs56235810	0.82[EUR][1000 genomes]
rs56386122	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73295804	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295807	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295812	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295822	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7970001	0.82[EUR][1000 genomes]
rs7970425	0.82[EUR][1000 genomes]
rs7970657	0.82[EUR][1000 genomes]
rs7973680	0.82[EUR][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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32443800-32480400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:32449200-32480400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:32449600-32490200	Weak transcription	HSMMtube	muscle
4	chr12:32450400-32480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:32455200-32480400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32456400-32480400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:32457200-32494400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:32459200-32480200	Weak transcription	Primary B cells from cord blood	blood
9	chr12:32459200-32480800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:32459400-32480600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:32460400-32480600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:32460400-32514600	Weak transcription	HMEC	breast
13	chr12:32460600-32480600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:32460800-32480400	Weak transcription	Osteobl	bone
15	chr12:32461000-32480800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:32461200-32480200	Weak transcription	HSMM	muscle
17	chr12:32461400-32480000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:32461400-32480200	Weak transcription	NH-A	brain
19	chr12:32461600-32472000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:32461800-32480400	Weak transcription	Primary T cells from cord blood	blood
21	chr12:32463000-32480200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:32463200-32480200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:32463600-32466600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:32463600-32466600	Weak transcription	Ovary	ovary
25	chr12:32463800-32469400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:32463800-32478400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:32465200-32466800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:32465200-32475400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:32465200-32475600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:32465400-32475200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:32465400-32480200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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