Variant report

Variant	rs185228214
Chromosome Location	chr5:41902087-41902088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:41902083-41902133	IMR90	lung:	fetal
2	chr5:41902083-41902133	PrEC	prostate:	n/a
3	chr5:41902083-41902133	Jurkat	blood:	n/a
4	chr5:41902083-41902133	NHDF-neo	bronchial:	n/a
5	chr5:41902083-41902133	HEEpiC	esophagus:	n/a
6	chr5:41902083-41902133	BJ	skin:	n/a
7	chr5:41902083-41902133	GM06990	blood:	n/a
8	chr5:41902083-41902133	T-47D	breast:	n/a
9	chr5:41902083-41902133	MCF10A-Er-Src	breast:	n/a
10	chr5:41902083-41902133	HIPEpiC	eye:	n/a
11	chr5:41902083-41902133	HRE	kidney:	n/a
12	chr5:41902083-41902133	HNPCEpiC	eye:	n/a
13	chr5:41902083-41902133	PANC-1	pancreas:	n/a
14	chr5:41902083-41902133	K562	blood:	n/a
15	chr5:41902083-41902133	AoSMC	blood vessel:	n/a
16	chr5:41902083-41902133	PFSK-1	brain:	n/a
17	chr5:41902083-41902133	HAEpiC	amniotic membrane:	n/a
18	chr5:41902083-41902133	NB4	blood:	n/a
19	chr5:41902083-41902133	GM12878	blood:	n/a
20	chr5:41902083-41902133	HepG2	liver:	n/a
21	chr5:41902083-41902133	AG10803	skin:	n/a
22	chr5:41902083-41902133	SK-N-MC	brain:	n/a
23	chr5:41902083-41902133	H1-hESC	embryonic stem cell:	embryo
24	chr5:41902083-41902133	SAEC	small airway:	n/a
25	chr5:41902083-41902133	HEK293	kidney:	embryo
26	chr5:41902083-41902133	HUVEC	blood vessel:	n/a
27	chr5:41902083-41902133	GM12891	blood:	n/a
28	chr5:41902083-41902133	AG04449	skin:	fetal
29	chr5:41902083-41902133	A549	lung:	n/a
30	chr5:41902083-41902133	HCT-116	colon:	n/a
31	chr5:41902083-41902133	U87	brain:	n/a
32	chr5:41902083-41902133	BE2_C	brain:	n/a
33	chr5:41902083-41902133	Caco-2	colon:	n/a
34	chr5:41902083-41902133	Hela-S3	cervix:	n/a
35	chr5:41902083-41902133	CMK	blood:	n/a
36	chr5:41902083-41902133	SK-N-SH	brain:	n/a
37	chr5:41902083-41902133	AG04450	lung:	fetal
38	chr5:41902083-41902133	HRCEpiC	kidney:	n/a
39	chr5:41902083-41902133	ProgFib	skin:	n/a
40	chr5:41902083-41902133	NHBE	bronchial:	n/a
41	chr5:41902083-41902133	Hepatocyte	liver:	n/a
42	chr5:41902083-41902133	SK-N-SH_RA	brain:	n/a
43	chr5:41902083-41902133	GM19239	blood:	n/a
44	chr5:41902083-41902133	NT2-D1	testis:	n/a
45	chr5:41902083-41902133	SKMC	muscle:	n/a
46	chr5:41902083-41902133	HMEC	breast:	n/a
47	chr5:41902083-41902133	ECC-1	luminal epithelium:	n/a
48	chr5:41902083-41902133	MCF-7	breast:	n/a
49	chr5:41902083-41902133	NH-A	brain:	n/a
50	chr5:41902083-41902133	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:41867500..41871930-chr5:41901815..41908844,17	K562	blood:
2	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
3	chr5:41901802..41904243-chr5:43119565..43121157,2	K562	blood:

No data

Variant related genes	Relation type
C5orf51	CpG island
ENSG00000172262	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000083720	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3508785	chr5:41900095-41904893	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv327668	chr5:41901383-41909830	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	esv3469161	chr5:41901765-41903841	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv3508784	chr5:41901813-41903820	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
9	esv3469160	chr5:41901819-41903820	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	esv3469164	chr5:41901829-41903802	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
11	esv3508788	chr5:41901833-41903785	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	esv3469162	chr5:41901853-41903778	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	esv3508789	chr5:41901860-41903770	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	esv13889	chr5:41901871-41903659	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
15	esv3469159	chr5:41901905-41903722	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	esv3508787	chr5:41901915-41903724	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
17	esv3469165	chr5:41901920-41903719	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
18	esv3508790	chr5:41901920-41903719	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
19	nsv597881	chr5:41901966-41903583	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41899600-41903200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:41900000-41903800	Weak transcription	Gastric	stomach
3	chr5:41900400-41903600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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