Variant report

Variant	rs548297631
Chromosome Location	chr13:95358952-95358953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:95358768-95360299	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr13:95358761-95359761	H1-neurons	neurons:	n/a	n/a
3	BACH1	chr13:95358881-95359055	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:95358924-95358974	SK-N-MC	brain:	n/a
2	chr13:95358924-95358974	GM12878	blood:	n/a
3	chr13:95358924-95358974	SAEC	small airway:	n/a
4	chr13:95358924-95358974	HRE	kidney:	n/a
5	chr13:95358924-95358974	HEEpiC	esophagus:	n/a
6	chr13:95358924-95358974	ECC-1	luminal epithelium:	n/a
7	chr13:95358924-95358974	NH-A	brain:	n/a
8	chr13:95358924-95358974	HAEpiC	amniotic membrane:	n/a
9	chr13:95358924-95358974	LNCaP	prostate:	n/a
10	chr13:95358924-95358974	RPTEC	kidney:	n/a
11	chr13:95358924-95358974	A549	lung:	n/a
12	chr13:95358924-95358974	GM12892	blood:	n/a
13	chr13:95358924-95358974	H1-hESC	embryonic stem cell:	embryo
14	chr13:95358924-95358974	ovcar-3	ovarian:	n/a
15	chr13:95358924-95358974	U87	brain:	n/a
16	chr13:95358924-95358974	NHBE	bronchial:	n/a
17	chr13:95358924-95358974	PrEC	prostate:	n/a
18	chr13:95358924-95358974	PANC-1	pancreas:	n/a
19	chr13:95358924-95358974	NB4	blood:	n/a
20	chr13:95358924-95358974	BE2_C	brain:	n/a
21	chr13:95358924-95358974	NT2-D1	testis:	n/a
22	chr13:95358924-95358974	NHDF-neo	bronchial:	n/a
23	chr13:95358924-95358974	HCPEpiC	choroid plexus:	n/a
24	chr13:95358924-95358974	Hela-S3	cervix:	n/a
25	chr13:95358924-95358974	MCF10A-Er-Src	breast:	n/a
26	chr13:95358924-95358974	HRCEpiC	kidney:	n/a
27	chr13:95358924-95358974	HCM	heart:	n/a
28	chr13:95358924-95358974	GM06990	blood:	n/a
29	chr13:95358924-95358974	HNPCEpiC	eye:	n/a
30	chr13:95358924-95358974	AG04449	skin:	fetal
31	chr13:95358924-95358974	SKMC	muscle:	n/a
32	chr13:95358924-95358974	HRPEpiC	eye:	n/a
33	chr13:95358924-95358974	GM19239	blood:	n/a
34	chr13:95358924-95358974	AG10803	skin:	n/a
35	chr13:95358924-95358974	ProgFib	skin:	n/a
36	chr13:95358924-95358974	IMR90	lung:	fetal
37	chr13:95358924-95358974	GM12891	blood:	n/a
38	chr13:95358924-95358974	Hepatocyte	liver:	n/a
39	chr13:95358924-95358974	HL-60	blood:	n/a
40	chr13:95358924-95358974	PFSK-1	brain:	n/a
41	chr13:95358924-95358974	HepG2	liver:	n/a
42	chr13:95358924-95358974	Caco-2	colon:	n/a
43	chr13:95358924-95358974	SK-N-SH_RA	brain:	n/a
44	chr13:95358924-95358974	MCF-7	breast:	n/a
45	chr13:95358924-95358974	BJ	skin:	n/a
46	chr13:95358924-95358974	K562	blood:	n/a
47	chr13:95358924-95358974	CMK	blood:	n/a
48	chr13:95358924-95358974	Jurkat	blood:	n/a
49	chr13:95358924-95358974	AG04450	lung:	fetal
50	chr13:95358924-95358974	AG09309	skin:	n/a

(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
LINC00391	CpG island
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:26 , 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	chr13:95358600-95359000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
8	chr13:95358600-95359000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:95358600-95359000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
10	chr13:95358600-95359600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:95358600-95359600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:95358600-95362400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr13:95358800-95359000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:95358800-95359000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:95358800-95359000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr13:95358800-95359000	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr13:95358800-95359000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
18	chr13:95358800-95359000	Bivalent Enhancer	Fetal Lung	lung
19	chr13:95358800-95359200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:95358800-95359400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr13:95358800-95360800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr13:95358800-95361000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:95358800-95361000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
24	chr13:95358800-95361200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr13:95358800-95361600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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