Variant report

Variant	rs17096287
Chromosome Location	chr1:75590450-75590451
allele	C/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	CTCF	chr1:75590269-75590508	K562	blood:	n/a	chr1:75590330-75590343
2	CTCF	chr1:75590251-75590536	K562	blood:	n/a	chr1:75590330-75590343
3	CTCF	chr1:75590360-75590510	HepG2	liver:	n/a	n/a
4	RAD21	chr1:75590278-75590576	HepG2	liver:	n/a	n/a
5	CTCF	chr1:75590340-75590490	GM12871	blood:	n/a	n/a
6	CTCF	chr1:75590251-75590487	HepG2	liver:	n/a	chr1:75590330-75590343
7	MAX	chr1:75590227-75590699	K562	blood:	n/a	n/a
8	CTCF	chr1:75590376-75590485	HepG2	liver:	n/a	n/a
9	CTCF	chr1:75590300-75590450	AG04450	lung:	n/a	chr1:75590330-75590343
10	RAD21	chr1:75590306-75590473	K562	blood:	n/a	n/a
11	BHLHE40	chr1:75590341-75590650	HepG2	liver:	n/a	n/a
12	CTCF	chr1:75590331-75590508	K562	blood:	n/a	n/a
13	CTCF	chr1:75590383-75590481	GM19238	blood:	n/a	n/a
14	CTCF	chr1:75590328-75590496	H1-hESC	embryonic stem cell:	n/a	chr1:75590330-75590343
15	CTCF	chr1:75590340-75590490	AG09319	gingival:	n/a	n/a
16	RAD21	chr1:75590233-75590553	HepG2	liver:	n/a	n/a
17	MAFK	chr1:75590410-75590584	HepG2	liver:	n/a	n/a
18	RAD21	chr1:75590212-75590507	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:75590340-75590490	GM12864	blood:	n/a	n/a
20	E2F6	chr1:75590241-75590587	K562	blood:	n/a	n/a
21	CTCF	chr1:75590377-75590490	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr1:75590257-75590593	K562	blood:	n/a	chr1:75590330-75590343
23	CTCF	chr1:75590219-75590567	H1-hESC	embryonic stem cell:	n/a	chr1:75590330-75590343
24	CCNT2	chr1:75590268-75590471	K562	blood:	n/a	n/a
25	RAD21	chr1:75590091-75590601	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:75590360-75590510	K562	blood:	n/a	n/a
27	MYC	chr1:75590318-75590500	K562	blood:	n/a	n/a
28	RCOR1	chr1:75590317-75590517	K562	blood:	n/a	n/a
29	CTCF	chr1:75590420-75590570	GM06990	blood:	n/a	n/a
30	CTCF	chr1:75590320-75590470	GM12864	blood:	n/a	chr1:75590330-75590343
31	MAX	chr1:75590288-75590712	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr1:75590258-75590501	K562	blood:	n/a	chr1:75590330-75590343
33	CTCF	chr1:75590207-75590557	H1-hESC	embryonic stem cell:	n/a	chr1:75590330-75590343
34	RAD21	chr1:75590223-75590580	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAZ	chr1:75590378-75590542	K562	blood:	n/a	n/a
36	RAD21	chr1:75590245-75590547	HepG2	liver:	n/a	n/a
37	MAX	chr1:75590250-75590582	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr1:75590414-75590564	K562	blood:	n/a	n/a
39	BHLHE40	chr1:75590385-75590588	K562	blood:	n/a	n/a
40	PAX5	chr1:75590246-75590460	GM12892	blood:	n/a	chr1:75590301-75590328
41	CTCF	chr1:75590320-75590470	AG04449	skin:	n/a	chr1:75590330-75590343
42	RAD21	chr1:75590250-75590464	K562	blood:	n/a	n/a
43	CTCF	chr1:75590374-75590489	GM12892	blood:	n/a	n/a
44	HMGN3	chr1:75590314-75591223	K562	blood:	n/a	n/a
45	CTCF	chr1:75590340-75590490	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75232761..75233511-chr1:75590416..75590921,2	K562	blood:
2	chr1:75590358..75592095-chr1:75633170..75635872,2	K562	blood:

Variant related genes	Relation type
LHX8	TF binding region
ENSG00000261213	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72984855	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17096287	CRYZ	cis	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75590200-75590600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:75590200-75591000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:75590200-75591200	Bivalent Enhancer	Fetal Heart	heart
4	chr1:75590200-75591200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr1:75590200-75591400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:75590400-75590600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr1:75590400-75590600	Bivalent Enhancer	Right Ventricle	heart
8	chr1:75590400-75591200	Bivalent Enhancer	Spleen	Spleen
9	chr1:75590400-75591400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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