Variant report

Variant	rs740231
Chromosome Location	chr22:31531150-31531151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31529812..31532616-chr22:31699068..31700741,2	MCF-7	breast:
2	chr22:31520871..31523261-chr22:31529734..31531376,2	MCF-7	breast:
3	chr22:31531032..31533565-chr22:31534387..31537694,4	MCF-7	breast:
4	chr22:31530526..31533633-chr22:31534058..31538042,3	K562	blood:

Variant related genes	Relation type
ENSG00000100078	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1004243	0.84[GIH][hapmap]
rs2229875	1.00[CHB][hapmap]
rs2413027	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35342535	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7284757	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs8137317	1.00[CHB][hapmap]
rs9621184	0.82[GIH][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs740231	SELM	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31519200-31532600	Weak transcription	Ovary	ovary
2	chr22:31519400-31535400	Weak transcription	Lung	lung
3	chr22:31519600-31536000	Weak transcription	Brain Germinal Matrix	brain
4	chr22:31519800-31531600	Weak transcription	Brain Anterior Caudate	brain
5	chr22:31519800-31532000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr22:31519800-31532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:31519800-31536000	Weak transcription	Gastric	stomach
8	chr22:31520000-31531200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:31520000-31533200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:31520200-31535800	Weak transcription	Fetal Brain Female	brain
11	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
12	chr22:31520800-31532000	Strong transcription	Fetal Intestine Small	intestine
13	chr22:31522800-31535200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:31523400-31535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr22:31523800-31535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:31524600-31533000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:31524600-31536000	Weak transcription	Right Ventricle	heart
18	chr22:31524800-31531400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:31524800-31532200	Weak transcription	Fetal Intestine Large	intestine
20	chr22:31524800-31533000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr22:31524800-31536400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr22:31527600-31534400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:31528000-31531400	Weak transcription	Spleen	Spleen
24	chr22:31528000-31534000	Weak transcription	Stomach Mucosa	stomach
25	chr22:31528000-31535000	Weak transcription	Esophagus	oesophagus
26	chr22:31528000-31536000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:31528200-31531200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:31528200-31534000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:31528200-31534600	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr22:31528200-31536400	Weak transcription	Pancreas	Pancrea
31	chr22:31528800-31531800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:31528800-31533800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr22:31529000-31533600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:31529000-31534200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr22:31529000-31535600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:31529600-31534000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:31529800-31531400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:31529800-31532800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr22:31529800-31535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr22:31530000-31533400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr22:31530000-31534600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:31530400-31532200	Weak transcription	Fetal Stomach	stomach
43	chr22:31530400-31533400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr22:31530400-31538400	Weak transcription	Left Ventricle	heart
45	chr22:31530600-31532800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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