Variant report

Variant	rs73242623
Chromosome Location	chr4:57840543-57840544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57822641..57828782-chr4:57838494..57846737,10	K562	blood:

Variant related genes	Relation type
ENSG00000269949	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10002090	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10023009	0.89[AMR][1000 genomes]
rs10026915	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10034395	0.89[AMR][1000 genomes]
rs11935933	0.88[EUR][1000 genomes]
rs11942607	0.80[EUR][1000 genomes]
rs17828496	1.00[EUR][1000 genomes]
rs1961950	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2227902	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2227903	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2271806	0.89[AMR][1000 genomes]
rs2271807	0.89[AMR][1000 genomes]
rs2276896	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28370990	0.89[AMR][1000 genomes]
rs28474684	0.89[AMR][1000 genomes]
rs28520821	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28545156	0.89[AMR][1000 genomes]
rs28623722	0.89[AMR][1000 genomes]
rs28681160	0.89[AMR][1000 genomes]
rs28719609	0.89[AMR][1000 genomes]
rs3755901	0.80[EUR][1000 genomes]
rs3775083	0.89[AMR][1000 genomes]
rs41344750	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55734441	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56798906	0.89[AMR][1000 genomes]
rs6843415	0.89[AMR][1000 genomes]
rs73242618	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73242619	0.97[EUR][1000 genomes]
rs73242620	1.00[EUR][1000 genomes]
rs73242621	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73242622	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73242625	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73242632	0.89[AMR][1000 genomes]
rs7673980	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57826600-57840800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:57826600-57840800	Strong transcription	Fetal Brain Female	brain
5	chr4:57826600-57840800	Strong transcription	Fetal Muscle Leg	muscle
6	chr4:57826600-57840800	Strong transcription	Fetal Thymus	thymus
7	chr4:57826600-57841000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:57826600-57841400	Strong transcription	Fetal Intestine Large	intestine
9	chr4:57826800-57840800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:57826800-57840800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:57826800-57840800	Weak transcription	Stomach Mucosa	stomach
12	chr4:57827000-57843200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:57827200-57840600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:57827200-57840800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:57827200-57840800	Strong transcription	Dnd41	blood
16	chr4:57827200-57841000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:57827200-57841000	Strong transcription	Fetal Lung	lung
18	chr4:57827200-57841400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:57827400-57841000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:57827600-57840600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:57828000-57840600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:57828200-57841200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:57834600-57841000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:57835200-57840600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:57835400-57842000	Strong transcription	Fetal Stomach	stomach
26	chr4:57835600-57841000	Strong transcription	Right Ventricle	heart
27	chr4:57835800-57840600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr4:57835800-57840800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr4:57836200-57841000	Strong transcription	Colonic Mucosa	Colon
30	chr4:57836400-57840600	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr4:57836400-57840600	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr4:57837000-57842200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:57837800-57840600	Strong transcription	NH-A	brain
34	chr4:57838000-57840800	Strong transcription	Ovary	ovary
35	chr4:57838200-57840600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:57838200-57841000	Strong transcription	Colon Smooth Muscle	Colon
37	chr4:57838400-57840600	ZNF genes & repeats	GM12878-XiMat	blood
38	chr4:57838400-57840800	Strong transcription	Brain Cingulate Gyrus	brain
39	chr4:57838400-57841000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:57838600-57840600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr4:57838600-57840800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:57838800-57840600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:57838800-57841200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
44	chr4:57839000-57840600	Strong transcription	Fetal Brain Male	brain
45	chr4:57839400-57840800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:57839400-57842000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:57839600-57840600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr4:57839800-57842400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:57840000-57840600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:57840000-57840600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links