Variant report

Variant	rs17723231
Chromosome Location	chr7:31107448-31107449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2249714	0.80[CEU][hapmap]
rs35776631	0.87[AFR][1000 genomes]
rs3779247	0.81[CEU][hapmap];0.87[AFR][1000 genomes]
rs67936721	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538811	chr7:30549595-31405593	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1016256	chr7:30649212-31163056	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1023120	chr7:30655070-31185096	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2761316	chr7:30655082-31166676	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv527038	chr7:30657467-31161945	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv916877	chr7:30661135-31154731	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1017168	chr7:30663213-31166676	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1017808	chr7:30671936-31150473	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv464418	chr7:31072386-31116168	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv606522	chr7:31072386-31116168	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv606523	chr7:31074214-31122542	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1023274	chr7:31096936-31126310	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17723231	BMPER	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:31099200-31109000	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:31099200-31112000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:31101000-31109800	Weak transcription	Spleen	Spleen
4	chr7:31101000-31137600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:31101200-31113400	Weak transcription	Right Atrium	heart
6	chr7:31101200-31115800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:31101200-31119200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:31101400-31110400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:31102000-31126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:31102000-31134600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:31102400-31131800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:31102600-31108800	Weak transcription	Brain Substantia Nigra	brain
13	chr7:31102800-31111800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:31103000-31111800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:31103000-31112000	Weak transcription	Fetal Brain Male	brain
16	chr7:31103600-31109000	Strong transcription	Fetal Brain Female	brain
17	chr7:31104000-31110400	Strong transcription	Fetal Stomach	stomach
18	chr7:31104600-31108000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:31105200-31108800	Weak transcription	Right Ventricle	heart
20	chr7:31105600-31109600	Weak transcription	Brain Germinal Matrix	brain
21	chr7:31105800-31108000	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr7:31105800-31112000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:31106400-31109400	Weak transcription	Brain Anterior Caudate	brain
24	chr7:31106800-31108800	Weak transcription	Left Ventricle	heart
25	chr7:31106800-31110400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:31107000-31108800	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:31107200-31110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:31107400-31108200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links