Variant report

Variant	rs113870110
Chromosome Location	chr5:1858398-1858399
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB33	chr5:1857869-1858588	K562	blood:	n/a	n/a
2	PAX5	chr5:1857839-1858607	GM12878	blood:	n/a	n/a
3	NR3C1	chr5:1857846-1858660	A549	lung:	n/a	n/a
4	PAX5	chr5:1857882-1858450	GM12878	blood:	n/a	n/a
5	REST	chr5:1857890-1858569	PANC-1	pancreas:	n/a	n/a
6	SPI1	chr5:1857900-1858405	GM12878	blood:	n/a	n/a
7	POU2F2	chr5:1857785-1858559	GM12878	blood:	n/a	n/a
8	NR3C1	chr5:1857924-1858543	A549	lung:	n/a	n/a
9	ZBTB33	chr5:1857982-1858516	GM12878	blood:	n/a	n/a
10	RXRA	chr5:1857770-1858584	HepG2	liver:	n/a	n/a
11	IRF4	chr5:1857920-1858435	GM12878	blood:	n/a	n/a
12	NR3C1	chr5:1857860-1858449	A549	lung:	n/a	n/a
13	GABPA	chr5:1857859-1858548	Hela-S3	cervix:	n/a	n/a
14	TCF3	chr5:1857845-1858543	GM12878	blood:	n/a	n/a
15	NR2F2	chr5:1857793-1858687	K562	blood:	n/a	n/a
16	NR2F2	chr5:1857771-1858688	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:1858360-1858410	SK-N-SH_RA	brain:	n/a
2	chr5:1858360-1858410	HPAEpiC	pulmonary alveolar:	n/a
3	chr5:1858360-1858410	HCT-116	colon:	n/a
4	chr5:1858360-1858410	RPTEC	kidney:	n/a
5	chr5:1858360-1858410	PrEC	prostate:	n/a
6	chr5:1858360-1858410	SK-N-MC	brain:	n/a
7	chr5:1858360-1858410	AG09319	gingival:	n/a
8	chr5:1858360-1858410	HRCEpiC	kidney:	n/a
9	chr5:1858360-1858410	HRPEpiC	eye:	n/a
10	chr5:1858360-1858410	BE2_C	brain:	n/a
11	chr5:1858360-1858410	HRE	kidney:	n/a
12	chr5:1858360-1858410	NH-A	brain:	n/a
13	chr5:1858360-1858410	Hepatocyte	liver:	n/a
14	chr5:1858360-1858410	BJ	skin:	n/a
15	chr5:1858360-1858410	ECC-1	luminal epithelium:	n/a
16	chr5:1858360-1858410	Caco-2	colon:	n/a
17	chr5:1858360-1858410	HEK293	kidney:	embryo
18	chr5:1858360-1858410	Hela-S3	cervix:	n/a
19	chr5:1858360-1858410	Jurkat	blood:	n/a
20	chr5:1858360-1858410	IMR90	lung:	fetal
21	chr5:1858360-1858410	NT2-D1	testis:	n/a
22	chr5:1858360-1858410	MCF10A-Er-Src	breast:	n/a
23	chr5:1858360-1858410	HUVEC	blood vessel:	n/a
24	chr5:1858360-1858410	SKMC	muscle:	n/a
25	chr5:1858360-1858410	H1-hESC	embryonic stem cell:	embryo
26	chr5:1858360-1858410	ProgFib	skin:	n/a
27	chr5:1858360-1858410	GM12891	blood:	n/a
28	chr5:1858360-1858410	HAEpiC	amniotic membrane:	n/a
29	chr5:1858360-1858410	AG04449	skin:	fetal
30	chr5:1858360-1858410	NHDF-neo	bronchial:	n/a
31	chr5:1858360-1858410	GM19239	blood:	n/a
32	chr5:1858360-1858410	HNPCEpiC	eye:	n/a
33	chr5:1858360-1858410	SAEC	small airway:	n/a
34	chr5:1858360-1858410	HL-60	blood:	n/a
35	chr5:1858360-1858410	AG04450	lung:	fetal
36	chr5:1858360-1858410	CMK	blood:	n/a
37	chr5:1858360-1858410	GM06990	blood:	n/a
38	chr5:1858360-1858410	ovcar-3	ovarian:	n/a
39	chr5:1858360-1858410	HCPEpiC	choroid plexus:	n/a
40	chr5:1858360-1858410	MCF-7	breast:	n/a
41	chr5:1858360-1858410	GM12892	blood:	n/a
42	chr5:1858360-1858410	K562	blood:	n/a
43	chr5:1858360-1858410	PFSK-1	brain:	n/a
44	chr5:1858360-1858410	AG10803	skin:	n/a
45	chr5:1858360-1858410	HIPEpiC	eye:	n/a
46	chr5:1858360-1858410	GM12878	blood:	n/a
47	chr5:1858360-1858410	AoSMC	blood vessel:	n/a
48	chr5:1858360-1858410	HepG2	liver:	n/a
49	chr5:1858360-1858410	A549	lung:	n/a
50	chr5:1858360-1858410	HMEC	breast:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1847969..1849762-chr5:1857075..1859017,2	MCF-7	breast:
2	chr5:1854699..1857021-chr5:1857076..1860064,2	MCF-7	breast:
3	chr5:1800070..1802925-chr5:1857990..1860962,2	MCF-7	breast:
4	chr5:1858296..1860407-chr5:1867907..1869801,2	K562	blood:
5	chr5:1857778..1859771-chr5:1862935..1865251,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250417	TF binding region
ENSG00000250417	CpG island
ENSG00000145494	Chromatin interaction
ENSG00000250417	Chromatin interaction
ENSG00000171421	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription 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 miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv596891	chr5:1822326-1880891	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv880647	chr5:1822326-1880891	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv881619	chr5:1822326-1886471	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv881557	chr5:1822326-1932463	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv596892	chr5:1832240-1892759	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1019713	chr5:1833072-1884738	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv596893	chr5:1839498-1892759	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1018082	chr5:1849721-1884738	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv881470	chr5:1850563-1892759	Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv881188	chr5:1852284-1892759	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	esv3396670	chr5:1857903-1858622	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv821452	chr5:1857919-1858734	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv16194	chr5:1857949-1858599	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv3429754	chr5:1858145-1858611	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3432245	chr5:1858176-1858641	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1854000-1872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:1856000-1862600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:1856000-1875400	Weak transcription	Right Atrium	heart
4	chr5:1858000-1859200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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