Variant report

Variant	rs10000324
Chromosome Location	chr4:88157898-88157899
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88155381..88158315-chr4:88163823..88166228,2	K562	blood:
2	chr4:88139790..88142257-chr4:88154699..88158342,5	K562	blood:
3	chr4:87855284..87857307-chr4:88156806..88158551,2	MCF-7	breast:
4	chr4:88153381..88155637-chr4:88155738..88158294,2	K562	blood:
5	chr4:88140757..88143363-chr4:88155950..88159185,5	K562	blood:
6	chr4:88080915..88083555-chr4:88157675..88159786,2	K562	blood:
7	chr4:88148735..88151393-chr4:88155626..88158606,3	K562	blood:

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000145332	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11929874	0.94[ASN][1000 genomes]
rs13140105	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4583723	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6531965	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6834488	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6858253	0.84[ASN][1000 genomes]
rs7656630	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7688657	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][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	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1014846	chr4:88151614-88188335	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537170	chr4:88151614-88188335	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88157400-88158200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:88157400-88158400	Enhancers	NHDF-Ad	bronchial
3	chr4:88157400-88160600	Weak transcription	Fetal Intestine Small	intestine
4	chr4:88157400-88161000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:88157400-88161200	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:88157400-88161200	Weak transcription	Fetal Kidney	kidney
7	chr4:88157400-88161200	Weak transcription	Fetal Lung	lung
8	chr4:88157400-88161200	Weak transcription	HSMMtube	muscle
9	chr4:88157400-88161400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:88157600-88158200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:88157600-88158200	Weak transcription	A549	lung
12	chr4:88157600-88159200	Weak transcription	Hela-S3	cervix
13	chr4:88157600-88160400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:88157600-88160400	Weak transcription	Osteobl	bone
15	chr4:88157600-88160600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:88157600-88160600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:88157600-88160600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:88157600-88161000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:88157600-88161000	Weak transcription	Fetal Intestine Large	intestine
20	chr4:88157600-88161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:88157600-88161200	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:88157600-88161200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:88157600-88161200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:88157600-88161200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:88157800-88158400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:88157800-88158400	Enhancers	HepG2	liver
27	chr4:88157800-88160600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:88157800-88161200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:88157800-88161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:88157800-88161200	Weak transcription	Liver	Liver
31	chr4:88157800-88161200	Weak transcription	Stomach Mucosa	stomach
32	chr4:88157800-88161400	Weak transcription	Adipose Nuclei	Adipose

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