Variant report

Variant	rs1106846
Chromosome Location	chr7:140370484-140370485
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	BHLHE40	chr7:140370403-140370638	K562	blood:	n/a	n/a
2	MAZ	chr7:140370209-140370506	K562	blood:	n/a	n/a
3	EGR1	chr7:140370201-140370498	K562	blood:	n/a	chr7:140370348-140370361 chr7:140370347-140370362 chr7:140370349-140370359 chr7:140370343-140370365 chr7:140370349-140370360 chr7:140370347-140370361 chr7:140370348-140370361
4	CTCF	chr7:140370460-140370610	GM12869	blood:	n/a	n/a
5	RCOR1	chr7:140370139-140370497	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140367204..140371045-chr7:140371353..140375077,7	MCF-7	breast:
2	chr7:140370275..140375389-chr7:140393210..140401279,16	MCF-7	breast:

Variant related genes	Relation type
ADCK2	TF binding region
ENSG00000090266	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000146966	Chromatin interaction
ENSG00000240889	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11540284	0.82[EUR][1000 genomes]
rs11977567	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28828674	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28896544	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2907951	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2907952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2908235	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930316	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930317	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930323	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930325	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930326	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930328	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930329	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930330	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930332	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2968546	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2968554	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2968556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2968560	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6969644	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977496	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785630	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802537	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1106846	ADCK2	Cis_1M	lymphoblastoid	RTeQTL
rs1106846	ADCK2	cis	Nerve Tibial	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140365800-140372000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:140367400-140371800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:140367600-140370600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:140368000-140371800	Weak transcription	Fetal Kidney	kidney
5	chr7:140369200-140371600	Weak transcription	Ovary	ovary
6	chr7:140369600-140372000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:140370000-140370800	Enhancers	K562	blood
8	chr7:140370000-140371000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:140370000-140371800	Weak transcription	Placenta	Placenta
10	chr7:140370400-140370600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:140370400-140370600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:140370400-140370600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:140370400-140370800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:140370400-140371800	Weak transcription	Hela-S3	cervix
15	chr7:140370400-140372000	Weak transcription	A549	lung

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