Variant report

Variant	rs10849775
Chromosome Location	chr12:121084602-121084603
allele	C/T
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	YY1	chr12:121084599-121085269	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:121084572-121085108	Spleen_OC	spleen:	n/a	chr12:121084906-121084924 chr12:121084909-121084922
3	CTCF	chr12:121084553-121084690	GM10266	blood:	n/a	n/a
4	RAD21	chr12:121084569-121085310	HCT-116	colon:	n/a	chr12:121084912-121084922 chr12:121084907-121084926 chr12:121084910-121084923
5	RAD21	chr12:121084587-121085151	H1-hESC	embryonic stem cell:	n/a	chr12:121084912-121084922 chr12:121084907-121084926 chr12:121084910-121084923
6	CTCF	chr12:121084581-121084629	GM13977	blood:	n/a	n/a
7	CTCF	chr12:121084361-121085193	SK-N-SH	brain:	n/a	chr12:121084906-121084924 chr12:121084909-121084922
8	RAD21	chr12:121084586-121085200	A549	lung:	n/a	chr12:121084912-121084922 chr12:121084907-121084926 chr12:121084910-121084923
9	CTCF	chr12:121084430-121085318	HCT-116	colon:	n/a	chr12:121084906-121084924 chr12:121084909-121084922
10	TCF12	chr12:121084481-121085094	A549	lung:	n/a	n/a
11	CTCF	chr12:121084466-121085342	A549	lung:	n/a	chr12:121084906-121084924 chr12:121084909-121084922
12	CTCF	chr12:121084560-121084710	Caco-2	colon:	n/a	n/a
13	SMC3	chr12:121084552-121085373	SK-N-SH	brain:	n/a	chr12:121084912-121084922 chr12:121084908-121084922
14	RAD21	chr12:121084547-121085413	SK-N-SH	brain:	n/a	chr12:121084912-121084922 chr12:121084907-121084926 chr12:121084910-121084923
15	CTCF	chr12:121084460-121084610	GM12864	blood:	n/a	n/a
16	CTCF	chr12:121084561-121084649	GM12892	blood:	n/a	n/a
17	CTCF	chr12:121084560-121084667	GM19240	blood:	n/a	n/a
18	CTCF	chr12:121084460-121084610	HMEC	breast:	n/a	n/a
19	MXI1	chr12:121084264-121085334	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121079111..121080885-chr12:121083194..121085742,2	K562	blood:
2	chr12:121084519..121085438-chr12:121151413..121152244,4	MCF-7	breast:
3	chr12:121084474..121085355-chr12:121151432..121152310,2	MCF-7	breast:
4	chr12:121082536..121084918-chr12:121088940..121091677,2	K562	blood:
5	chr12:121083460..121086406-chr12:121125581..121127490,2	K562	blood:
6	chr12:121083368..121085683-chr12:121126949..121129432,2	MCF-7	breast:
7	chr12:121079111..121082636-chr12:121084242..121087390,3	K562	blood:

Variant related genes	Relation type
CABP1	TF binding region
ENSG00000256008	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10744753	0.88[EUR][1000 genomes]
rs10774564	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774565	0.84[ASN][1000 genomes]
rs10849774	0.99[ASN][1000 genomes]
rs11065183	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065184	0.98[ASN][1000 genomes]
rs11065186	0.95[ASN][1000 genomes]
rs11065188	0.89[ASN][1000 genomes]
rs11065189	0.89[ASN][1000 genomes]
rs11065191	0.89[ASN][1000 genomes]
rs11065192	0.89[ASN][1000 genomes]
rs11065193	0.84[ASN][1000 genomes]
rs11065194	0.84[ASN][1000 genomes]
rs11065195	0.82[ASN][1000 genomes]
rs11065196	0.83[ASN][1000 genomes]
rs11065197	0.84[ASN][1000 genomes]
rs11065198	0.84[ASN][1000 genomes]
rs11065199	0.84[ASN][1000 genomes]
rs11065204	0.86[ASN][1000 genomes]
rs11065205	0.86[ASN][1000 genomes]
rs12228187	0.89[ASN][1000 genomes]
rs12229164	0.83[ASN][1000 genomes]
rs12229181	0.86[ASN][1000 genomes]
rs12310160	0.84[ASN][1000 genomes]
rs12315917	0.93[EUR][1000 genomes]
rs12317100	0.93[EUR][1000 genomes]
rs3809310	0.92[ASN][1000 genomes]
rs3809311	0.89[ASN][1000 genomes]
rs4767920	0.87[EUR][1000 genomes]
rs7302002	0.84[ASN][1000 genomes]
rs7965013	0.93[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121079600-121086800	Weak transcription	Right Atrium	heart
2	chr12:121083800-121085200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr12:121084000-121084800	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr12:121084000-121084800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:121084600-121084800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
6	chr12:121084600-121084800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:121084600-121084800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:121084600-121084800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr12:121084600-121085000	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr12:121084600-121085000	Enhancers	Brain Cingulate Gyrus	brain
11	chr12:121084600-121085000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
12	chr12:121084600-121085200	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:121084600-121085200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr12:121084600-121085200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:121084600-121085400	Enhancers	Brain Angular Gyrus	brain
16	chr12:121084600-121085400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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