Variant report

Variant	rs41309631
Chromosome Location	chr1:213147057-213147058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213138245..213143253-chr1:213143565..213149265,6	K562	blood:
2	chr1:213146651..213149637-chr1:213158692..213161475,2	K562	blood:
3	chr1:213145484..213147806-chr1:213154081..213156986,2	K562	blood:
4	chr1:213143678..213151221-chr1:213151923..213156487,9	K562	blood:
5	chr1:213143411..213145037-chr1:213145067..213147758,2	K562	blood:

Variant related genes	Relation type
ENSG00000143494	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11802593	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11809007	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17020062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3123306	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3738804	0.87[EUR][1000 genomes]
rs41309633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56289940	0.82[EUR][1000 genomes]
rs58256189	0.87[EUR][1000 genomes]
rs58879807	0.87[EUR][1000 genomes]
rs59489266	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs59676624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59755371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60620122	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61385792	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61583935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832425	1.00[AFR][1000 genomes]
rs61832429	1.00[AFR][1000 genomes]
rs61832430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832433	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73084268	0.82[EUR][1000 genomes]
rs7554696	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv11434	chr1:213131581-213156027	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
2	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
3	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
4	chr1:213130000-213153800	Weak transcription	Thymus	Thymus
5	chr1:213131400-213153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:213133200-213153400	Weak transcription	Lung	lung
7	chr1:213133400-213153800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:213133600-213161600	Weak transcription	Fetal Intestine Large	intestine
9	chr1:213134600-213152200	Weak transcription	Right Atrium	heart
10	chr1:213137800-213154200	Strong transcription	Brain Germinal Matrix	brain
11	chr1:213141400-213154000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr1:213141600-213154600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:213141800-213153400	Weak transcription	Brain Angular Gyrus	brain
14	chr1:213142000-213149000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:213142400-213147200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:213142400-213147400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:213142400-213149400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:213142400-213152200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:213142400-213152200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:213142400-213154400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:213142800-213153400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:213143400-213148600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:213143600-213150000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:213143800-213149800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:213143800-213150000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:213143800-213153600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:213144000-213149200	Strong transcription	GM12878-XiMat	blood
28	chr1:213144400-213148400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:213144400-213150200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:213144600-213148400	Strong transcription	Fetal Kidney	kidney
31	chr1:213144600-213148600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:213144800-213150600	Strong transcription	Fetal Intestine Small	intestine
33	chr1:213144800-213152400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:213145200-213149600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:213145200-213150400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:213146000-213148400	Strong transcription	Fetal Brain Male	brain
37	chr1:213146000-213151400	Genic enhancers	HSMMtube	muscle
38	chr1:213146400-213153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:213146600-213147200	Strong transcription	Fetal Thymus	thymus
40	chr1:213146600-213153600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:213146600-213157200	Genic enhancers	Fetal Muscle Leg	muscle
42	chr1:213146800-213153600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:213147000-213152800	Weak transcription	HSMM	muscle
44	chr1:213147000-213154600	Weak transcription	Esophagus	oesophagus

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