Variant report

Variant	rs72649445
Chromosome Location	chr4:76620367-76620368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76615229..76618143-chr4:76619781..76621972,2	K562	blood:
2	chr4:76620008..76622936-chr4:76627662..76629475,2	K562	blood:
3	chr4:76597679..76599897-chr4:76618752..76620542,2	K562	blood:

Variant related genes	Relation type
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs324706	1.00[ASN][1000 genomes]
rs55745971	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59684133	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72647501	1.00[AMR][1000 genomes]
rs72649456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76599000-76620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:76599200-76640000	Weak transcription	Aorta	Aorta
3	chr4:76599400-76620400	Weak transcription	Left Ventricle	heart
4	chr4:76599600-76621600	Weak transcription	Fetal Lung	lung
5	chr4:76599600-76623400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:76599600-76624000	Weak transcription	Brain Substantia Nigra	brain
7	chr4:76599600-76639800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:76599600-76639800	Weak transcription	Brain Angular Gyrus	brain
9	chr4:76599600-76639800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:76599600-76647600	Weak transcription	Fetal Brain Female	brain
11	chr4:76599800-76621200	Weak transcription	HepG2	liver
12	chr4:76599800-76627800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:76600400-76640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:76600600-76627000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:76605800-76623400	Weak transcription	K562	blood
16	chr4:76605800-76633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:76607400-76640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:76611000-76620400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:76611400-76621200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:76611600-76620400	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:76612600-76622200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:76612800-76620400	Weak transcription	Fetal Thymus	thymus
23	chr4:76612800-76620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:76613000-76621600	Weak transcription	HSMMtube	muscle
25	chr4:76613000-76623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:76613200-76627800	Weak transcription	A549	lung
27	chr4:76613400-76623400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:76613800-76621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:76613800-76639000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:76613800-76639600	Weak transcription	Ovary	ovary
31	chr4:76614200-76621400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:76614600-76630200	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:76614800-76620400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr4:76614800-76628200	Weak transcription	Gastric	stomach
35	chr4:76615000-76620800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:76615600-76620400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:76615600-76620400	Weak transcription	Pancreas	Pancrea
38	chr4:76615600-76639800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:76615600-76639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:76615800-76620400	Weak transcription	Fetal Intestine Large	intestine
41	chr4:76615800-76620600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:76615800-76639000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:76616000-76640000	Weak transcription	Lung	lung
44	chr4:76616200-76630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:76617200-76621600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:76617400-76620600	Strong transcription	Fetal Stomach	stomach
47	chr4:76618200-76635000	Weak transcription	Adipose Nuclei	Adipose
48	chr4:76618400-76621200	Weak transcription	Stomach Mucosa	stomach
49	chr4:76618400-76639000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:76618600-76620600	Weak transcription	HMEC	breast

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