Variant report

Variant	rs10030342
Chromosome Location	chr4:89971538-89971539
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:89970076..89973919-chr4:89975021..89978811,7	K562	blood:
2	chr4:89967506..89970180-chr4:89970211..89972228,2	K562	blood:

Variant related genes	Relation type
ENSG00000138640	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10000140	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024807	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10027874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029662	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11097209	0.87[AMR][1000 genomes]
rs11097210	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11097211	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11734085	1.00[ASN][1000 genomes]
rs12506327	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507819	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13113298	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115669	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120109	1.00[ASN][1000 genomes]
rs13137443	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138946	0.91[EUR][1000 genomes]
rs13140085	0.87[AMR][1000 genomes]
rs13150503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513817	1.00[ASN][1000 genomes]
rs1588730	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014988	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17770341	1.00[ASN][1000 genomes]
rs17821540	1.00[ASN][1000 genomes]
rs17823587	1.00[ASN][1000 genomes]
rs2056012	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195755	1.00[ASN][1000 genomes]
rs28379646	0.83[AMR][1000 genomes]
rs33998578	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34008667	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34075854	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34300408	1.00[ASN][1000 genomes]
rs34624010	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35130975	0.93[EUR][1000 genomes]
rs35652620	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35909707	1.00[ASN][1000 genomes]
rs36111123	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5004788	1.00[ASN][1000 genomes]
rs59385067	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61286299	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62304457	0.82[EUR][1000 genomes]
rs62306389	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532102	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6814023	1.00[ASN][1000 genomes]
rs6823660	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826407	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6827398	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6853075	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6856010	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857969	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7660377	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7668782	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674344	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs874147	0.91[AMR][1000 genomes]
rs9992522	0.87[AMR][1000 genomes]
rs9996559	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89937200-89975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:89944200-89978000	Weak transcription	Pancreas	Pancrea
3	chr4:89946200-89972800	Weak transcription	A549	lung
4	chr4:89958000-89972200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:89958200-89974400	Weak transcription	Aorta	Aorta
6	chr4:89959000-89972200	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:89959000-89972400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:89959000-89972600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:89959000-89975400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:89959200-89974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:89959400-89972200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:89963200-89975800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:89966000-89971800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:89966000-89972000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:89970200-89971600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:89970600-89975200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:89971000-89974000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:89971200-89971600	Enhancers	K562	blood
19	chr4:89971200-89974400	Weak transcription	HUVEC	blood vessel
20	chr4:89971400-89971600	Enhancers	Psoas Muscle	Psoas
21	chr4:89971400-89972000	Enhancers	Ovary	ovary

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