Variant report

Variant	rs10020040
Chromosome Location	chr4:76617746-76617747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76616814..76618583-chr4:76648133..76650358,2	K562	blood:
2	chr4:76615229..76618143-chr4:76619781..76621972,2	K562	blood:

Variant related genes	Relation type
ENSG00000138757	Chromatin interaction
ENSG00000138768	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11097050	0.83[ASN][1000 genomes]
rs11097051	0.83[ASN][1000 genomes]
rs11729983	0.87[ASN][1000 genomes]
rs11731107	0.87[ASN][1000 genomes]
rs12647909	0.85[ASN][1000 genomes]
rs13103092	0.84[ASN][1000 genomes]
rs13134512	0.89[ASN][1000 genomes]
rs13135568	0.81[ASN][1000 genomes]
rs2137429	0.87[ASN][1000 genomes]
rs28709419	0.83[ASN][1000 genomes]
rs7665811	0.81[ASN][1000 genomes]
rs9306994	0.83[ASN][1000 genomes]
rs9306995	0.83[ASN][1000 genomes]
rs9994998	0.92[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	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
3	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
4	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76599000-76619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:76599000-76620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:76599200-76620000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:76599200-76640000	Weak transcription	Aorta	Aorta
5	chr4:76599400-76619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:76599400-76620400	Weak transcription	Left Ventricle	heart
7	chr4:76599600-76621600	Weak transcription	Fetal Lung	lung
8	chr4:76599600-76623400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:76599600-76624000	Weak transcription	Brain Substantia Nigra	brain
10	chr4:76599600-76639800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:76599600-76639800	Weak transcription	Brain Angular Gyrus	brain
12	chr4:76599600-76639800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:76599600-76647600	Weak transcription	Fetal Brain Female	brain
14	chr4:76599800-76619800	Weak transcription	Liver	Liver
15	chr4:76599800-76621200	Weak transcription	HepG2	liver
16	chr4:76599800-76627800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:76600400-76640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:76600600-76627000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:76605800-76623400	Weak transcription	K562	blood
20	chr4:76605800-76633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:76606000-76619800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:76607400-76640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:76611000-76620400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:76611400-76621200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:76611600-76619000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:76611600-76620400	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:76612600-76622200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:76612800-76620400	Weak transcription	Fetal Thymus	thymus
29	chr4:76612800-76620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:76613000-76621600	Weak transcription	HSMMtube	muscle
31	chr4:76613000-76623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:76613200-76619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:76613200-76627800	Weak transcription	A549	lung
34	chr4:76613400-76619000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:76613400-76619200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:76613400-76623400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:76613800-76620200	Weak transcription	Primary T cells from cord blood	blood
38	chr4:76613800-76621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:76613800-76639000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:76613800-76639600	Weak transcription	Ovary	ovary
41	chr4:76614200-76619200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:76614200-76621400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:76614400-76619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:76614400-76620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:76614600-76630200	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:76614800-76620400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr4:76614800-76628200	Weak transcription	Gastric	stomach
48	chr4:76615000-76618000	Weak transcription	NHEK	skin
49	chr4:76615000-76620800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:76615400-76620200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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