Variant report

Variant	rs13408182
Chromosome Location	chr2:54609774-54609775
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	chr2:54603833..54605469-chr2:54608187..54610403,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs13431815	1.00[ASN][1000 genomes]
rs6545404	1.00[ASN][1000 genomes]
rs6723740	1.00[ASN][1000 genomes]
rs6743995	1.00[ASN][1000 genomes]
rs6757240	1.00[ASN][1000 genomes]
rs9967676	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54598800-54611000	Weak transcription	Brain Substantia Nigra	brain
2	chr2:54599000-54611800	Weak transcription	Ovary	ovary
3	chr2:54599000-54614800	Weak transcription	Pancreas	Pancrea
4	chr2:54599200-54611200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:54601400-54611800	Weak transcription	Right Atrium	heart
6	chr2:54604000-54614800	Weak transcription	Lung	lung
7	chr2:54604200-54611800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:54605000-54611800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:54605400-54610600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:54605600-54611800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:54605600-54611800	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:54606200-54612000	Weak transcription	Fetal Lung	lung
13	chr2:54606200-54614600	Weak transcription	Fetal Heart	heart
14	chr2:54606400-54615200	Weak transcription	Fetal Kidney	kidney
15	chr2:54606600-54611400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:54606600-54611400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:54606600-54611400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:54606800-54611400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:54606800-54611800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:54608000-54611000	Weak transcription	Brain Anterior Caudate	brain
21	chr2:54608000-54614800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:54608200-54611000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:54608400-54611600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:54608400-54613200	Weak transcription	Left Ventricle	heart
25	chr2:54608600-54611600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:54608600-54611800	Weak transcription	Fetal Brain Male	brain
27	chr2:54608800-54611800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:54609000-54613200	Weak transcription	NHDF-Ad	bronchial
29	chr2:54609000-54616800	Weak transcription	Gastric	stomach
30	chr2:54609200-54610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:54609200-54611000	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:54609200-54611400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:54609200-54611800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:54609200-54612600	Weak transcription	Psoas Muscle	Psoas
35	chr2:54609400-54611200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:54609400-54611600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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