Variant report

Variant	rs2845887
Chromosome Location	chr11:63867523-63867524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr11:63867229-63867743	HEK293-T-REx	kidney:	n/a	n/a
2	CTCF	chr11:63867460-63867610	GM12870	blood:	n/a	n/a
3	CTCF	chr11:63867520-63867670	GM12864	blood:	n/a	n/a
4	CTCF	chr11:63867400-63867550	GM12868	blood:	n/a	n/a
5	CTCF	chr11:63867480-63867630	GM12873	blood:	n/a	n/a
6	CTCF	chr11:63867460-63867610	GM12864	blood:	n/a	n/a
7	POLR2A	chr11:63867515-63867541	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:63867520-63867670	GM06990	blood:	n/a	n/a
9	CTCF	chr11:63867460-63867610	GM12866	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63859958..63862104-chr11:63864993..63867532,2	K562	blood:
2	chr11:63861818..63863709-chr11:63865717..63867837,2	MCF-7	breast:
3	chr11:63867468..63869509-chr11:63890366..63892303,2	MCF-7	breast:
4	chr11:63859129..63860762-chr11:63865141..63867627,3	MCF-7	breast:

No data

Variant related genes	Relation type
FLRT1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2005261	0.97[GIH][hapmap];0.84[MEX][hapmap]
rs2845889	0.97[GIH][hapmap];0.84[MEX][hapmap]
rs61884710	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
3	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
5	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
6	nsv897653	chr11:63761169-63875456	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv897654	chr11:63772000-63875456	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
10	nsv897658	chr11:63810944-63897759	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv897659	chr11:63813470-63907079	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
13	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
14	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
15	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2845887	TMEM216	cis	parietal	SCAN
rs2845887	NAA40	cis	cerebellum	SCAN
rs2845887	RNASEH2C	cis	parietal	SCAN
rs2845887	BATF2	cis	cerebellum	SCAN
rs2845887	CST6	cis	parietal	SCAN
rs2845887	EIF1AD	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63851800-63868400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr11:63853000-63869000	Enhancers	Brain Hippocampus Middle	brain
3	chr11:63853000-63871200	Enhancers	Brain Cingulate Gyrus	brain
4	chr11:63853000-63871600	Enhancers	Brain Substantia Nigra	brain
5	chr11:63853400-63871200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:63853600-63870800	Enhancers	Brain Angular Gyrus	brain
7	chr11:63854600-63868400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:63856400-63871400	Enhancers	Brain Anterior Caudate	brain
9	chr11:63863200-63868400	Weak transcription	Ovary	ovary
10	chr11:63863600-63873200	Weak transcription	Colonic Mucosa	Colon
11	chr11:63863800-63875000	Weak transcription	Spleen	Spleen
12	chr11:63863800-63876600	Weak transcription	Fetal Intestine Small	intestine
13	chr11:63864000-63868400	Weak transcription	Adipose Nuclei	Adipose
14	chr11:63864000-63869000	Weak transcription	Fetal Lung	lung
15	chr11:63864800-63870000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:63865600-63872200	Weak transcription	Right Ventricle	heart
17	chr11:63866000-63867800	Weak transcription	Fetal Brain Male	brain
18	chr11:63866000-63868200	Weak transcription	Fetal Brain Female	brain
19	chr11:63866000-63878800	Weak transcription	Esophagus	oesophagus
20	chr11:63866200-63869200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:63866400-63868000	Weak transcription	Brain Germinal Matrix	brain
22	chr11:63866400-63887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:63866600-63867600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:63866600-63867800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:63866600-63868400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:63866800-63868200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:63866800-63869800	Enhancers	Fetal Stomach	stomach
28	chr11:63867000-63882800	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:63867200-63868200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:63867200-63872600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:63867400-63867600	Enhancers	Psoas Muscle	Psoas
32	chr11:63867400-63868200	Enhancers	GM12878-XiMat	blood
33	chr11:63867400-63878400	Weak transcription	HepG2	liver

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