Variant report

Variant	rs553069463
Chromosome Location	chr13:76109613-76109614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:76109310-76109751	GM12878	blood:	n/a	n/a
2	POLR2A	chr13:76108550-76110007	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr13:76109568-76109641	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr13:76109552-76109837	HepG2	liver:	n/a	n/a
5	POLR2A	chr13:76109131-76109808	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr13:76109202-76109963	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:76107791..76110428-chr13:76144234..76145882,2	K562	blood:
2	chr13:76102775..76109881-chr13:76110381..76113047,9	MCF-7	breast:
3	chr13:76101020..76103303-chr13:76108939..76111291,2	K562	blood:
4	chr13:76106394..76109955-chr13:76110419..76113939,6	MCF-7	breast:
5	chr13:76101122..76104303-chr13:76108576..76110569,3	K562	blood:
6	chr13:76109113..76111805-chr13:76112674..76114626,2	K562	blood:

No data

Variant related genes	Relation type
COMMD6	TF binding region
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
8	esv14404	chr13:76107773-76119573	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv2596575	chr13:76109159-76111338	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv1833250	chr13:76109534-76117768	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv442676	chr13:76109534-76117768	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv2760289	chr13:76109536-76117768	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76095800-76111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:76096600-76110400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:76096600-76111400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:76097000-76111000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:76097000-76111600	Weak transcription	Spleen	Spleen
6	chr13:76097800-76110400	Weak transcription	Brain Angular Gyrus	brain
7	chr13:76097800-76110600	Weak transcription	Fetal Brain Male	brain
8	chr13:76097800-76110600	Weak transcription	Fetal Kidney	kidney
9	chr13:76097800-76110600	Weak transcription	Psoas Muscle	Psoas
10	chr13:76097800-76111200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:76098000-76110400	Weak transcription	A549	lung
12	chr13:76098000-76110400	Weak transcription	HUVEC	blood vessel
13	chr13:76098000-76110600	Weak transcription	Brain Anterior Caudate	brain
14	chr13:76098000-76110600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:76098000-76111200	Weak transcription	Aorta	Aorta
16	chr13:76098200-76110400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:76098400-76110200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:76098600-76111000	Weak transcription	Colonic Mucosa	Colon
19	chr13:76098800-76110400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr13:76098800-76111400	Weak transcription	Esophagus	oesophagus
21	chr13:76099400-76110400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:76099600-76110200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:76099600-76111000	Weak transcription	K562	blood
24	chr13:76100000-76110600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr13:76100000-76111200	Weak transcription	Ovary	ovary
26	chr13:76100200-76110400	Weak transcription	Brain Substantia Nigra	brain
27	chr13:76100200-76110600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:76100400-76110600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr13:76100800-76110000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr13:76100800-76110600	Weak transcription	Right Ventricle	heart
31	chr13:76102200-76110400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr13:76103600-76111000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:76104000-76110600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:76104400-76110400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:76105000-76110600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr13:76105000-76111200	Weak transcription	Stomach Mucosa	stomach
37	chr13:76105200-76110600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr13:76105200-76110600	Weak transcription	NHDF-Ad	bronchial
39	chr13:76105400-76110400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:76105600-76110400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:76106000-76110000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:76106000-76110000	Weak transcription	Small Intestine	intestine
43	chr13:76106000-76110400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr13:76106200-76109800	Strong transcription	Fetal Lung	lung
45	chr13:76106200-76110000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:76106200-76110200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:76106200-76110400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr13:76106200-76110600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr13:76106200-76110600	Strong transcription	Fetal Thymus	thymus
50	chr13:76106400-76110400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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