Variant report

Variant	rs560848241
Chromosome Location	chr13:76107230-76107231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr13:76107223-76107367	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76102775..76109881-chr13:76110381..76113047,9	MCF-7	breast:
2	chr13:76106394..76109955-chr13:76110419..76113939,6	MCF-7	breast:

Variant related genes	Relation type
COMMD6	TF binding region
ENSG00000188243	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	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3326553	chr13:76106251-76120849	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3346687	chr13:76106451-76115149	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3363843	chr13:76106551-76113949	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76093600-76109400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:76095600-76109200	Weak transcription	Gastric	stomach
3	chr13:76095800-76111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:76096600-76107400	Weak transcription	Fetal Intestine Small	intestine
5	chr13:76096600-76110400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:76096600-76111400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:76097000-76111000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:76097000-76111600	Weak transcription	Spleen	Spleen
9	chr13:76097600-76107400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:76097800-76110400	Weak transcription	Brain Angular Gyrus	brain
11	chr13:76097800-76110600	Weak transcription	Fetal Brain Male	brain
12	chr13:76097800-76110600	Weak transcription	Fetal Kidney	kidney
13	chr13:76097800-76110600	Weak transcription	Psoas Muscle	Psoas
14	chr13:76097800-76111200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:76098000-76107600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:76098000-76110400	Weak transcription	A549	lung
17	chr13:76098000-76110400	Weak transcription	HUVEC	blood vessel
18	chr13:76098000-76110600	Weak transcription	Brain Anterior Caudate	brain
19	chr13:76098000-76110600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:76098000-76111200	Weak transcription	Aorta	Aorta
21	chr13:76098200-76107400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:76098200-76107400	Weak transcription	NHLF	lung
23	chr13:76098200-76108200	Weak transcription	NHEK	skin
24	chr13:76098200-76109600	Weak transcription	Brain Germinal Matrix	brain
25	chr13:76098200-76110400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr13:76098400-76110200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:76098600-76111000	Weak transcription	Colonic Mucosa	Colon
28	chr13:76098800-76110400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr13:76098800-76111400	Weak transcription	Esophagus	oesophagus
30	chr13:76099200-76107400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:76099400-76109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:76099400-76110400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:76099600-76109400	Weak transcription	HSMMtube	muscle
34	chr13:76099600-76110200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:76099600-76111000	Weak transcription	K562	blood
36	chr13:76100000-76107400	Weak transcription	Fetal Muscle Leg	muscle
37	chr13:76100000-76107600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr13:76100000-76109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr13:76100000-76109200	Weak transcription	Lung	lung
40	chr13:76100000-76109400	Weak transcription	Left Ventricle	heart
41	chr13:76100000-76109400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr13:76100000-76110600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr13:76100000-76111200	Weak transcription	Ovary	ovary
44	chr13:76100200-76107400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:76100200-76107400	Weak transcription	Fetal Intestine Large	intestine
46	chr13:76100200-76107600	Weak transcription	Adipose Nuclei	Adipose
47	chr13:76100200-76109200	Weak transcription	Colon Smooth Muscle	Colon
48	chr13:76100200-76109200	Weak transcription	Thymus	Thymus
49	chr13:76100200-76110400	Weak transcription	Brain Substantia Nigra	brain
50	chr13:76100200-76110600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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