Variant report

Variant	rs73501430
Chromosome Location	chr11:77058539-77058540
allele	A/C
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	TCF12	chr11:77057707-77058569	SK-N-SH	brain:	n/a	n/a
2	MAFK	chr11:77058316-77058608	HepG2	liver:	n/a	chr11:77058434-77058449
3	GATA3	chr11:77057698-77058668	SK-N-SH	brain:	n/a	chr11:77058130-77058140
4	MAFK	chr11:77058281-77058622	HepG2	liver:	n/a	chr11:77058434-77058449
5	TCF12	chr11:77057740-77058554	SK-N-SH	brain:	n/a	n/a
6	MAFF	chr11:77058335-77058593	HepG2	liver:	n/a	chr11:77058432-77058450
7	MAFK	chr11:77058018-77058625	IMR90	lung:	n/a	chr11:77058434-77058449

Variant related genes	Relation type
PAK1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56731074	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57692537	0.83[AFR][1000 genomes]
rs58324432	0.83[AFR][1000 genomes]
rs60843504	0.83[AFR][1000 genomes]
rs7102973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494597	0.83[AFR][1000 genomes]
rs73494599	0.83[AFR][1000 genomes]
rs73496868	0.83[AFR][1000 genomes]
rs73496872	0.83[AFR][1000 genomes]
rs73496883	0.83[AFR][1000 genomes]
rs73496888	0.83[AFR][1000 genomes]
rs73501406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73501407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73501414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73501423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73501440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73501471	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77028000-77068400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:77028200-77066000	Weak transcription	Fetal Kidney	kidney
3	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:77031600-77066400	Weak transcription	Gastric	stomach
5	chr11:77031600-77073800	Weak transcription	Spleen	Spleen
6	chr11:77031800-77070400	Weak transcription	Fetal Brain Male	brain
7	chr11:77032200-77066400	Weak transcription	Lung	lung
8	chr11:77033400-77067200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:77033800-77059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:77034400-77059200	Weak transcription	Psoas Muscle	Psoas
12	chr11:77034400-77086200	Weak transcription	NHLF	lung
13	chr11:77034800-77063800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:77034800-77064000	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:77042800-77080800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:77043000-77061000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:77043400-77066400	Weak transcription	Esophagus	oesophagus
18	chr11:77043400-77072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:77043400-77074800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:77043400-77082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:77043400-77083600	Weak transcription	Thymus	Thymus
22	chr11:77043600-77060800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:77043800-77071400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:77043800-77088400	Weak transcription	Colonic Mucosa	Colon
25	chr11:77044000-77061800	Weak transcription	Stomach Mucosa	stomach
26	chr11:77044000-77062000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:77044200-77062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:77044200-77075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:77044600-77071600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:77045400-77062200	Strong transcription	GM12878-XiMat	blood
31	chr11:77046200-77077000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:77046200-77092400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:77047200-77096000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:77047400-77089000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr11:77047400-77090000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:77047800-77063800	Weak transcription	Brain Angular Gyrus	brain
38	chr11:77047800-77066400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:77047800-77066400	Weak transcription	A549	lung
40	chr11:77047800-77075000	Weak transcription	Left Ventricle	heart
41	chr11:77047800-77075600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr11:77048000-77059400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:77048400-77064000	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:77048600-77058800	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:77048600-77066400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:77048600-77069200	Weak transcription	Brain Germinal Matrix	brain
47	chr11:77048600-77070000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:77048600-77087800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:77048800-77069000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:77050200-77062000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links