Variant report

Variant	rs10916214
Chromosome Location	chr1:228003247-228003248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr1:228003114-228003481	H1-hESC	embryonic stem cell:	n/a	chr1:228003392-228003408
2	MAX	chr1:228003131-228003446	H1-hESC	embryonic stem cell:	n/a	chr1:228003233-228003244
3	ATF3	chr1:228003217-228003449	K562	blood:	n/a	n/a
4	USF1	chr1:228003147-228003426	K562	blood:	n/a	chr1:228003392-228003408
5	CTCF	chr1:228003124-228003520	K562	blood:	n/a	chr1:228003391-228003404
6	MAX	chr1:228003093-228003562	H1-hESC	embryonic stem cell:	n/a	chr1:228003233-228003244
7	CTCF	chr1:228003159-228003533	K562	blood:	n/a	chr1:228003391-228003404
8	CTCF	chr1:228003240-228003390	SAEC	small airway:	n/a	n/a
9	CTCF	chr1:228003180-228003471	H1-hESC	embryonic stem cell:	n/a	chr1:228003391-228003404
10	CTCF	chr1:228003201-228003555	K562	blood:	n/a	chr1:228003391-228003404
11	CTCF	chr1:228003240-228003390	GM12872	blood:	n/a	n/a
12	CTCF	chr1:228003137-228003520	H1-hESC	embryonic stem cell:	n/a	chr1:228003391-228003404
13	CTCF	chr1:228003220-228003370	GM12864	blood:	n/a	n/a
14	CTCF	chr1:228003244-228003465	K562	blood:	n/a	chr1:228003391-228003404
15	CTCF	chr1:228003140-228003290	HAc	cerebellar:	n/a	n/a
16	MYC	chr1:228003222-228003515	K562	blood:	n/a	chr1:228003233-228003244
17	POLR2A	chr1:228003244-228003397	MCF-7	breast:	n/a	n/a
18	E2F6	chr1:228003173-228003503	K562	blood:	n/a	n/a
19	CTCF	chr1:228003231-228003338	A549	lung:	n/a	n/a
20	CTCF	chr1:228003240-228003390	GM06990	blood:	n/a	n/a
21	CTCF	chr1:228003230-228003338	Fibrobl	skin:	n/a	n/a
22	CTCF	chr1:228003073-228003568	K562	blood:	n/a	chr1:228003391-228003404
23	CTCF	chr1:228003240-228003390	Hela-S3	cervix:	n/a	n/a
24	MAX	chr1:228003197-228003567	H1-hESC	embryonic stem cell:	n/a	chr1:228003233-228003244
25	USF2	chr1:228003218-228003418	H1-hESC	embryonic stem cell:	n/a	chr1:228003392-228003408
26	CTCF	chr1:228003120-228003270	GM12872	blood:	n/a	n/a
27	USF1	chr1:228003019-228003456	H1-hESC	embryonic stem cell:	n/a	chr1:228003392-228003408
28	CTCF	chr1:228003240-228003390	K562	blood:	n/a	n/a
29	USF1	chr1:228003112-228003504	K562	blood:	n/a	chr1:228003392-228003408
30	CTCF	chr1:228003247-228003461	H1-hESC	embryonic stem cell:	n/a	chr1:228003391-228003404
31	CTCF	chr1:228003222-228003427	MCF-7	breast:	n/a	chr1:228003391-228003404
32	CTCF	chr1:228003219-228003373	Gliobla	brain:	n/a	n/a
33	CTCF	chr1:228003240-228003390	HepG2	liver:	n/a	n/a
34	CBX3	chr1:228003121-228003526	K562	blood:	n/a	n/a
35	CTCF	chr1:228003240-228003390	GM12871	blood:	n/a	n/a
36	MAX	chr1:228003058-228003570	K562	blood:	n/a	chr1:228003233-228003244

Variant related genes	Relation type
PRSS38	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12065943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135083	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16848162	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4233229	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4394649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653875	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750287	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
4	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
6	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv468238	chr1:227935762-228045748	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv549272	chr1:227935762-228045748	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
10	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
11	esv3356894	chr1:227985266-228005245	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv998933	chr1:227992928-228059296	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv549273	chr1:227995966-228051234	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10916214	TRIM17	cis	parietal	SCAN
rs10916214	MIA3	cis	cerebellum	SCAN
rs10916214	ZNF678	Cis_1M	lymphoblastoid	RTeQTL
rs10916214	ZNF678	cis	uninvolved skin	skin_eQTL
rs10916214	ZNF678	cis	lesional skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228003200-228005000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links