Variant report

Variant	rs558723689
Chromosome Location	chr13:95359350-95359351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr13:95359174-95360317	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr13:95359172-95360248	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:95358768-95360299	H1-neurons	neurons:	n/a	n/a
4	CHD1	chr13:95359104-95359590	H1-hESC	embryonic stem cell:	n/a	n/a
5	KAP1	chr13:95359115-95361120	HEK293	kidney:	n/a	n/a
6	BACH1	chr13:95359027-95360743	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr13:95358761-95359761	H1-neurons	neurons:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:95354749..95357417-chr13:95358781..95361227,3	MCF-7	breast:
2	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:
3	chr13:95325863..95327596-chr13:95357586..95359779,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOX21-1	chr13:95358391-95359564	XLOC_010695

No data

Variant related genes	Relation type
LINC00391	TF binding region
ENSG00000238230	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1813549	chr13:95333331-95377127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1824604	chr13:95357807-95365771	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv826750	chr13:95358502-95368070	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95355800-95359600	Weak transcription	Pancreas	Pancrea
2	chr13:95357200-95359600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr13:95357600-95360800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:95357800-95359600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr13:95358400-95361600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr13:95358400-95361600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr13:95358600-95359600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:95358600-95359600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:95358600-95362400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr13:95358800-95359400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:95358800-95360800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr13:95358800-95361000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:95358800-95361000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
14	chr13:95358800-95361200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr13:95358800-95361600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:95359000-95359400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr13:95359000-95359400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr13:95359000-95359400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:95359000-95359600	Active TSS	Brain Germinal Matrix	brain
21	chr13:95359000-95360000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr13:95359000-95360800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr13:95359000-95360800	Active TSS	Brain Substantia Nigra	brain
24	chr13:95359000-95360800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
25	chr13:95359000-95360800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr13:95359000-95362200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr13:95359000-95368000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:95359200-95359400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:95359200-95359400	Bivalent Enhancer	Colon Smooth Muscle	Colon
30	chr13:95359200-95359600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr13:95359200-95359600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr13:95359200-95360200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr13:95359200-95360400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr13:95359200-95360600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr13:95359200-95360800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr13:95359200-95360800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
37	chr13:95359200-95360800	Bivalent/Poised TSS	NH-A	brain
38	chr13:95359200-95361000	Active TSS	Brain Anterior Caudate	brain
39	chr13:95359200-95366600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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