Variant report

Variant	rs527401354
Chromosome Location	chr13:52491972-52491973
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52484875..52491698-chr13:52491732..52499779,14	MCF-7	breast:
2	chr13:52491156..52495004-chr13:52498889..52501522,3	MCF-7	breast:
3	chr13:52484188..52486390-chr13:52491938..52494786,2	K562	blood:

Variant related genes	Relation type
ENSG00000232872	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv455888	chr13:52491193-52570728	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv561649	chr13:52491193-52570728	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52464600-52494400	Weak transcription	Aorta	Aorta
2	chr13:52475600-52493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:52476200-52493800	Weak transcription	K562	blood
4	chr13:52476400-52496600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr13:52480200-52497200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:52481200-52496400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:52481200-52496600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:52481600-52502000	Weak transcription	Right Atrium	heart
9	chr13:52481800-52506000	Weak transcription	Ovary	ovary
10	chr13:52486400-52500200	Weak transcription	Fetal Kidney	kidney
11	chr13:52486400-52523400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:52486800-52502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:52487000-52507800	Weak transcription	Pancreas	Pancrea
14	chr13:52487400-52496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:52488000-52507800	Weak transcription	Brain Anterior Caudate	brain
16	chr13:52488000-52508200	Weak transcription	Brain Angular Gyrus	brain
17	chr13:52488000-52508200	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:52488200-52505800	Weak transcription	Brain Germinal Matrix	brain
19	chr13:52488200-52508000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr13:52488200-52542200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr13:52488400-52496600	Weak transcription	Fetal Brain Female	brain
22	chr13:52488400-52496800	Weak transcription	Thymus	Thymus
23	chr13:52488600-52496400	Weak transcription	Fetal Stomach	stomach
24	chr13:52489000-52494600	Weak transcription	Esophagus	oesophagus
25	chr13:52489000-52496800	Weak transcription	Fetal Muscle Leg	muscle
26	chr13:52489600-52508400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:52490000-52509400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr13:52491000-52492400	Strong transcription	Liver	Liver
29	chr13:52491200-52492000	Weak transcription	HepG2	liver
30	chr13:52491200-52499800	Weak transcription	Fetal Heart	heart
31	chr13:52491200-52500200	Weak transcription	Lung	lung
32	chr13:52491600-52497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:52491800-52493800	Weak transcription	Fetal Intestine Large	intestine
34	chr13:52491800-52495000	Weak transcription	Fetal Intestine Small	intestine

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