Variant report

Variant	rs9885123
Chromosome Location	chr5:41968392-41968393
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:0)
LncRNA
region (count:0)
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	chr5:41967933-41968821	K562	blood:	n/a	n/a
2	CTCF	chr5:41968383-41968718	K562	blood:	n/a	chr5:41968629-41968638 chr5:41968626-41968644
3	CTCF	chr5:41968386-41968409	Fibrobl	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:41968376-41968426	BJ	skin:	n/a
2	chr5:41968376-41968426	HCPEpiC	choroid plexus:	n/a
3	chr5:41968376-41968426	HAEpiC	amniotic membrane:	n/a
4	chr5:41968376-41968426	AG10803	skin:	n/a
5	chr5:41968376-41968426	AG04449	skin:	fetal
6	chr5:41968376-41968426	HRPEpiC	eye:	n/a
7	chr5:41968376-41968426	AoSMC	blood vessel:	n/a
8	chr5:41968376-41968426	RPTEC	kidney:	n/a
9	chr5:41968376-41968426	AG09309	skin:	n/a
10	chr5:41968376-41968426	K562	blood:	n/a
11	chr5:41968376-41968426	ECC-1	luminal epithelium:	n/a
12	chr5:41968376-41968426	HCF	heart:	n/a
13	chr5:41968376-41968426	HL-60	blood:	n/a
14	chr5:41968376-41968426	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:41968376-41968426	PrEC	prostate:	n/a
16	chr5:41968376-41968426	SKMC	muscle:	n/a
17	chr5:41968376-41968426	LNCaP	prostate:	n/a
18	chr5:41968376-41968426	A549	lung:	n/a
19	chr5:41968376-41968426	SK-N-SH_RA	brain:	n/a
20	chr5:41968376-41968426	MCF10A-Er-Src	breast:	n/a
21	chr5:41968376-41968426	PFSK-1	brain:	n/a
22	chr5:41968376-41968426	SK-N-MC	brain:	n/a
23	chr5:41968376-41968426	T-47D	breast:	n/a
24	chr5:41968376-41968426	IMR90	lung:	fetal
25	chr5:41968376-41968426	ProgFib	skin:	n/a
26	chr5:41968376-41968426	Caco-2	colon:	n/a
27	chr5:41968376-41968426	CMK	blood:	n/a
28	chr5:41968376-41968426	HNPCEpiC	eye:	n/a
29	chr5:41968376-41968426	Hepatocyte	liver:	n/a
30	chr5:41968376-41968426	GM12878	blood:	n/a
31	chr5:41968376-41968426	GM19239	blood:	n/a
32	chr5:41968376-41968426	U87	brain:	n/a
33	chr5:41968376-41968426	HRE	kidney:	n/a
34	chr5:41968376-41968426	AG04450	lung:	fetal
35	chr5:41968376-41968426	GM12891	blood:	n/a
36	chr5:41968376-41968426	NT2-D1	testis:	n/a
37	chr5:41968376-41968426	HEEpiC	esophagus:	n/a
38	chr5:41968376-41968426	NHBE	bronchial:	n/a
39	chr5:41968376-41968426	MCF-7	breast:	n/a
40	chr5:41968376-41968426	HepG2	liver:	n/a
41	chr5:41968376-41968426	HMEC	breast:	n/a
42	chr5:41968376-41968426	SAEC	small airway:	n/a
43	chr5:41968376-41968426	NB4	blood:	n/a
44	chr5:41968376-41968426	PANC-1	pancreas:	n/a
45	chr5:41968376-41968426	HIPEpiC	eye:	n/a
46	chr5:41968376-41968426	Jurkat	blood:	n/a
47	chr5:41968376-41968426	NH-A	brain:	n/a
48	chr5:41968376-41968426	HEK293	kidney:	embryo
49	chr5:41968376-41968426	GM12892	blood:	n/a
50	chr5:41968376-41968426	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000199487	TF binding region
ENSG00000199487	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10037152	0.83[AFR][1000 genomes]
rs10054482	0.91[AFR][1000 genomes]
rs10064781	1.00[YRI][hapmap]
rs10070573	1.00[AFR][1000 genomes]
rs10076789	1.00[AFR][1000 genomes]
rs28479045	1.00[AFR][1000 genomes]

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	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
2	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
4	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
5	nsv880627	chr5:41966551-42087954	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41968000-41968400	Enhancers	Placenta	Placenta

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