Variant report

Variant	rs3747152
Chromosome Location	chr22:31520338-31520339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31519059..31520976-chr22:31535041..31537963,2	K562	blood:
2	chr22:31519081..31520607-chr22:31520876..31523639,2	MCF-7	breast:
3	chr22:31519012..31520650-chr22:31555414..31558501,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138942	Chromatin interaction
ENSG00000100078	Chromatin interaction
ENSG00000264141	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs2240431	0.86[JPT][hapmap]
rs2240432	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757873	0.80[CHD][hapmap]

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	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3747152	THOC5	cis	parietal	SCAN
rs3747152	CCDC117	cis	parietal	SCAN
rs3747152	TCN2	cis	cerebellum	SCAN
rs3747152	HORMAD2	cis	cerebellum	SCAN
rs3747152	FBXO7	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31519000-31521400	Weak transcription	Spleen	Spleen
2	chr22:31519200-31527600	Weak transcription	Esophagus	oesophagus
3	chr22:31519200-31532600	Weak transcription	Ovary	ovary
4	chr22:31519400-31522800	Weak transcription	K562	blood
5	chr22:31519400-31535400	Weak transcription	Lung	lung
6	chr22:31519600-31521000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:31519600-31522600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:31519600-31522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:31519600-31522800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:31519600-31522800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:31519600-31522800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr22:31519600-31523200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:31519600-31523200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:31519600-31523400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:31519600-31536000	Weak transcription	Brain Germinal Matrix	brain
16	chr22:31519800-31520400	Weak transcription	Right Ventricle	heart
17	chr22:31519800-31520400	Enhancers	Stomach Smooth Muscle	stomach
18	chr22:31519800-31520600	Enhancers	Fetal Intestine Large	intestine
19	chr22:31519800-31520600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr22:31519800-31522400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:31519800-31522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr22:31519800-31522600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:31519800-31524200	Weak transcription	Left Ventricle	heart
24	chr22:31519800-31525600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr22:31519800-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr22:31519800-31528800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:31519800-31531600	Weak transcription	Brain Anterior Caudate	brain
28	chr22:31519800-31532000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:31519800-31532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:31519800-31536000	Weak transcription	Gastric	stomach
31	chr22:31520000-31520800	Genic enhancers	Fetal Intestine Small	intestine
32	chr22:31520000-31521200	Enhancers	Pancreas	Pancrea
33	chr22:31520000-31524000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr22:31520000-31527600	Weak transcription	Stomach Mucosa	stomach
35	chr22:31520000-31531200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr22:31520000-31533200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr22:31520200-31520400	Enhancers	Right Atrium	heart
38	chr22:31520200-31520800	Weak transcription	Fetal Brain Male	brain
39	chr22:31520200-31523200	Weak transcription	Colonic Mucosa	Colon
40	chr22:31520200-31524000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr22:31520200-31535800	Weak transcription	Fetal Brain Female	brain

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