Variant report

Variant	rs73240527
Chromosome Location	chr4:57080483-57080484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17745470	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28658475	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59885332	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240524	1.00[ASN][1000 genomes]
rs73240525	1.00[ASN][1000 genomes]
rs73240535	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1012036	chr4:56963544-57106642	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57050000-57084600	Weak transcription	Fetal Brain Male	brain
2	chr4:57063000-57107800	Weak transcription	Fetal Kidney	kidney
3	chr4:57070400-57089000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:57074600-57081200	Weak transcription	HepG2	liver
5	chr4:57078000-57082000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:57078000-57082000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:57078000-57082000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:57078200-57081400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:57078200-57081600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:57078200-57093200	Weak transcription	Fetal Stomach	stomach
11	chr4:57078200-57098200	Weak transcription	Fetal Brain Female	brain
12	chr4:57078400-57081600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:57078400-57082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:57078400-57086400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:57078400-57095200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:57078600-57081600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:57078600-57092000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:57078800-57080600	Weak transcription	Fetal Intestine Large	intestine
19	chr4:57078800-57081600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:57078800-57081800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:57079000-57081600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:57079000-57094000	Weak transcription	Small Intestine	intestine
23	chr4:57079200-57080800	Weak transcription	Fetal Intestine Small	intestine
24	chr4:57079400-57081000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:57079400-57081000	Weak transcription	Stomach Mucosa	stomach
26	chr4:57079400-57081600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:57079800-57081600	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links