Variant report

Variant	rs28478666
Chromosome Location	chr5:118785346-118785347
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	chr5:118785325-118785375	HCF	heart:	n/a
2	chr5:118785325-118785375	U87	brain:	n/a
3	chr5:118785325-118785375	HNPCEpiC	eye:	n/a
4	chr5:118785325-118785375	GM19239	blood:	n/a
5	chr5:118785325-118785375	HL-60	blood:	n/a
6	chr5:118785325-118785375	NB4	blood:	n/a
7	chr5:118785325-118785375	A549	lung:	n/a
8	chr5:118785325-118785375	HCT-116	colon:	n/a
9	chr5:118785325-118785375	HRPEpiC	eye:	n/a
10	chr5:118785325-118785375	GM12892	blood:	n/a
11	chr5:118785325-118785375	NHDF-neo	bronchial:	n/a
12	chr5:118785325-118785375	AG10803	skin:	n/a
13	chr5:118785325-118785375	HCM	heart:	n/a
14	chr5:118785325-118785375	HEEpiC	esophagus:	n/a
15	chr5:118785325-118785375	Caco-2	colon:	n/a
16	chr5:118785325-118785375	HRE	kidney:	n/a
17	chr5:118785325-118785375	HMEC	breast:	n/a
18	chr5:118785325-118785375	NT2-D1	testis:	n/a
19	chr5:118785325-118785375	H1-hESC	embryonic stem cell:	embryo
20	chr5:118785325-118785375	BJ	skin:	n/a
21	chr5:118785325-118785375	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:118785325-118785375	AG09309	skin:	n/a
23	chr5:118785325-118785375	HUVEC	blood vessel:	n/a
24	chr5:118785325-118785375	PANC-1	pancreas:	n/a
25	chr5:118785325-118785375	AG04450	lung:	fetal
26	chr5:118785325-118785375	SKMC	muscle:	n/a
27	chr5:118785325-118785375	MCF-7	breast:	n/a
28	chr5:118785325-118785375	GM12878	blood:	n/a
29	chr5:118785325-118785375	PrEC	prostate:	n/a
30	chr5:118785325-118785375	AG09319	gingival:	n/a
31	chr5:118785325-118785375	T-47D	breast:	n/a
32	chr5:118785325-118785375	HRCEpiC	kidney:	n/a
33	chr5:118785325-118785375	RPTEC	kidney:	n/a
34	chr5:118785325-118785375	Jurkat	blood:	n/a
35	chr5:118785325-118785375	ECC-1	luminal epithelium:	n/a
36	chr5:118785325-118785375	AG04449	skin:	fetal
37	chr5:118785325-118785375	HIPEpiC	eye:	n/a
38	chr5:118785325-118785375	SAEC	small airway:	n/a
39	chr5:118785325-118785375	HAEpiC	amniotic membrane:	n/a
40	chr5:118785325-118785375	SK-N-SH_RA	brain:	n/a
41	chr5:118785325-118785375	BE2_C	brain:	n/a
42	chr5:118785325-118785375	HepG2	liver:	n/a
43	chr5:118785325-118785375	GM12891	blood:	n/a
44	chr5:118785325-118785375	K562	blood:	n/a
45	chr5:118785325-118785375	PFSK-1	brain:	n/a
46	chr5:118785325-118785375	NHBE	bronchial:	n/a
47	chr5:118785325-118785375	IMR90	lung:	fetal
48	chr5:118785325-118785375	MCF10A-Er-Src	breast:	n/a
49	chr5:118785325-118785375	HCPEpiC	choroid plexus:	n/a
50	chr5:118785325-118785375	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:118783920..118786685-chr5:118788386..118791351,2	MCF-7	breast:
2	chr5:118784342..118786295-chr5:118788114..118789779,2	K562	blood:
3	chr5:118784342..118786376-chr5:118787907..118789779,3	K562	blood:

No data

Variant related genes	Relation type
HSD17B4	CpG island
ENSG00000133835	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10040115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10041122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10041785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10045177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10054525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057263	1.00[EUR][1000 genomes]
rs10057643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10061692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10062410	1.00[EUR][1000 genomes]
rs10064454	1.00[EUR][1000 genomes]
rs10068320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10072256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10077255	1.00[EUR][1000 genomes]
rs10440770	1.00[EUR][1000 genomes]
rs10477586	1.00[EUR][1000 genomes]
rs10478423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13356711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13361084	1.00[EUR][1000 genomes]
rs28558429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28588064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28590215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28673725	1.00[EUR][1000 genomes]
rs28762138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28792671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55810648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303659	1.00[EUR][1000 genomes]
rs56372726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58184170	1.00[EUR][1000 genomes]
rs73790891	1.00[EUR][1000 genomes]
rs9885031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr5:118775400-118787600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:118781600-118785400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:118781600-118788000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118782400-118787400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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