Variant report

Variant	rs73853812
Chromosome Location	chr4:144280794-144280795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144280022..144283375-chr4:144285064..144288406,3	K562	blood:
2	chr4:144279254..144282177-chr4:144295139..144296728,2	MCF-7	breast:
3	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:
4	chr4:144264438..144268402-chr4:144278355..144282865,4	K562	blood:
5	chr4:144127423..144129387-chr4:144280177..144281782,2	K562	blood:
6	chr4:144279896..144282516-chr4:144316177..144318703,2	K562	blood:

Variant related genes	Relation type
ENSG00000265623	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519681	1.00[AMR][1000 genomes]
rs1866757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28925883	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28989205	1.00[AMR][1000 genomes]
rs28989218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28989233	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55683567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55789823	1.00[AMR][1000 genomes]
rs55872942	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56372904	1.00[AMR][1000 genomes]
rs57024421	1.00[AMR][1000 genomes]
rs57336725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57368559	1.00[AMR][1000 genomes]
rs57674712	1.00[AMR][1000 genomes]
rs57743690	1.00[AMR][1000 genomes]
rs60891033	1.00[AMR][1000 genomes]
rs61193096	1.00[AMR][1000 genomes]
rs61288732	1.00[AMR][1000 genomes]
rs61681472	1.00[AMR][1000 genomes]
rs73850695	1.00[AMR][1000 genomes]
rs73850696	1.00[AMR][1000 genomes]
rs73850702	1.00[AMR][1000 genomes]
rs73853806	1.00[AMR][1000 genomes]
rs73853807	1.00[AMR][1000 genomes]
rs73853808	1.00[AMR][1000 genomes]
rs73853810	1.00[AMR][1000 genomes]
rs73853811	1.00[AMR][1000 genomes]
rs73853814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7696614	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272000-144281400	Enhancers	Brain Substantia Nigra	brain
2	chr4:144272800-144281200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
4	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:144275800-144283000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:144276200-144280800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:144276200-144283000	Enhancers	HMEC	breast
8	chr4:144276400-144281200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:144276800-144284800	Weak transcription	Lung	lung
11	chr4:144277000-144282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:144277000-144282800	Enhancers	Fetal Lung	lung
13	chr4:144277200-144281800	Weak transcription	HSMM	muscle
14	chr4:144277200-144284000	Enhancers	Fetal Intestine Large	intestine
15	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
16	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
17	chr4:144277800-144281200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:144278000-144282200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:144278200-144285400	Enhancers	Fetal Heart	heart
20	chr4:144279000-144283600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:144279400-144281200	Enhancers	Placenta	Placenta
22	chr4:144279400-144281200	Enhancers	Fetal Thymus	thymus
23	chr4:144279600-144280800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr4:144279600-144281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:144279600-144281200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:144279600-144281200	Flanking Active TSS	NHEK	skin
27	chr4:144279600-144281400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:144279600-144281400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:144279600-144281400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:144279600-144281400	Enhancers	Fetal Kidney	kidney
31	chr4:144279600-144281600	Enhancers	Brain Angular Gyrus	brain
32	chr4:144279600-144282600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:144279600-144283000	Enhancers	NHDF-Ad	bronchial
34	chr4:144279600-144284200	Enhancers	Brain Anterior Caudate	brain
35	chr4:144279800-144280800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr4:144279800-144280800	Enhancers	Stomach Smooth Muscle	stomach
37	chr4:144279800-144281000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:144279800-144281000	Enhancers	Dnd41	blood
39	chr4:144279800-144281000	Flanking Active TSS	K562	blood
40	chr4:144279800-144281200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:144279800-144281200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:144279800-144281200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:144279800-144281400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr4:144279800-144281400	Enhancers	Stomach Mucosa	stomach
45	chr4:144279800-144283400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr4:144279800-144286000	Enhancers	Brain Cingulate Gyrus	brain
47	chr4:144280000-144280800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:144280000-144280800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr4:144280000-144280800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr4:144280000-144280800	Flanking Active TSS	HUVEC	blood vessel

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