Variant report

Variant	rs1931076
Chromosome Location	chr1:56845586-56845587
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	RAD21	chr1:56839169-56846366	SK-N-SH	brain:	n/a	chr1:56839904-56839918 chr1:56840249-56840261

Variant related genes	Relation type
ENSG00000223307	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10493205	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10493206	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10493207	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10493208	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11206797	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12120414	0.93[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12122982	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12135065	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12562368	0.80[AMR][1000 genomes]
rs12732326	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12732886	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12733519	0.80[AMR][1000 genomes]
rs12734077	0.80[AMR][1000 genomes]
rs4244023	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4244024	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4600084	0.84[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912229	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61772749	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67708636	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1931076	ECHDC2	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56839200-56846800	Enhancers	Fetal Stomach	stomach
2	chr1:56840000-56862400	Weak transcription	Gastric	stomach
3	chr1:56842400-56862400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:56842600-56849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:56842600-56850600	Weak transcription	NHDF-Ad	bronchial
6	chr1:56842600-56859800	Weak transcription	Right Ventricle	heart
7	chr1:56842800-56848800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:56843000-56861800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:56843600-56846400	Weak transcription	Right Atrium	heart
10	chr1:56843800-56846000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:56843800-56846000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:56844000-56855800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:56844200-56857800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:56844600-56846000	Weak transcription	Fetal Lung	lung
15	chr1:56844600-56853000	Weak transcription	Left Ventricle	heart
16	chr1:56844800-56845800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:56845000-56846200	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:56845200-56846400	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:56845200-56847000	Enhancers	Colon Smooth Muscle	Colon
20	chr1:56845400-56845600	Enhancers	Fetal Kidney	kidney
21	chr1:56845400-56856000	Weak transcription	HepG2	liver

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