Variant report

Variant	rs11556475
Chromosome Location	chr1:71538191-71538192
allele	C/T
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	MAFK	chr1:71537971-71538339	HepG2	liver:	n/a	n/a
2	MAFF	chr1:71537974-71538330	HepG2	liver:	n/a	n/a
3	MAFF	chr1:71537995-71538331	K562	blood:	n/a	n/a
4	MAFK	chr1:71537974-71538310	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:71518050-71545780	K562	blood:	n/a	n/a
6	POLR2A	chr1:71538171-71538594	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:71537974-71538477	GM12878	blood:	n/a	n/a
8	MAFK	chr1:71538067-71538301	Hela-S3	cervix:	n/a	n/a
9	MAFK	chr1:71537985-71538321	K562	blood:	n/a	n/a
10	MAFK	chr1:71537973-71538338	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71537451..71540868-chr1:71542769..71545634,3	MCF-7	breast:

Variant related genes	Relation type
MIR186	TF binding region
ZRANB2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10128001	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10493483	0.92[AMR][1000 genomes]
rs10518356	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13376594	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17090802	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17090808	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17090925	0.86[AMR][1000 genomes]
rs17090932	0.92[AMR][1000 genomes]
rs17091001	0.92[AMR][1000 genomes]
rs17091015	0.96[AMR][1000 genomes]
rs17091024	0.92[AMR][1000 genomes]
rs17091028	0.96[AMR][1000 genomes]
rs2050066	0.84[EUR][1000 genomes]
rs41287936	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5671	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5673	0.97[EUR][1000 genomes]
rs56752457	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5676	0.97[EUR][1000 genomes]
rs5691	0.97[EUR][1000 genomes]
rs58163483	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58281678	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58293304	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59834169	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60078028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs726352	0.92[AMR][1000 genomes]
rs74087222	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74090259	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7531741	0.98[EUR][1000 genomes]
rs7552415	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71515800-71541000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:71520600-71544600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:71521400-71544200	Strong transcription	Adipose Nuclei	Adipose
4	chr1:71521800-71544600	Strong transcription	HSMM	muscle
5	chr1:71522000-71543800	Strong transcription	Primary B cells from cord blood	blood
6	chr1:71522000-71544200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:71522000-71544200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:71522000-71544200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:71522000-71544400	Strong transcription	HMEC	breast
10	chr1:71522200-71540800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:71522200-71544200	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr1:71522200-71544600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:71522400-71544200	Strong transcription	Liver	Liver
14	chr1:71522600-71544200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr1:71522600-71544200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:71522600-71544400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:71522600-71544400	Strong transcription	NH-A	brain
18	chr1:71522800-71540400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:71522800-71544400	Strong transcription	Fetal Thymus	thymus
20	chr1:71522800-71544600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:71522800-71544600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:71523000-71543800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:71523000-71544400	Strong transcription	Osteobl	bone
24	chr1:71523000-71544600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:71523000-71544600	Strong transcription	Placenta	Placenta
26	chr1:71523200-71540600	Strong transcription	Dnd41	blood
27	chr1:71523200-71542800	Strong transcription	K562	blood
28	chr1:71523200-71544200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:71523200-71544400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:71523400-71544600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:71523600-71544000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:71523600-71544200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr1:71523600-71544800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:71523600-71544800	Strong transcription	Fetal Lung	lung
35	chr1:71523800-71544000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:71523800-71544400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:71524000-71542200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:71524400-71538600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:71524400-71541000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:71524400-71541600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:71524400-71542200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:71524400-71544400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:71524600-71539000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:71524600-71544400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:71525000-71540800	Strong transcription	HUVEC	blood vessel
46	chr1:71525000-71544600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:71525200-71543800	Strong transcription	Fetal Intestine Large	intestine
48	chr1:71525400-71544600	Strong transcription	Hela-S3	cervix
49	chr1:71526000-71544400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:71526400-71543800	Strong transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links