Variant report

Variant	rs73853814
Chromosome Location	chr4:144283482-144283483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144274310..144276106-chr4:144283049..144285599,2	MCF-7	breast:
2	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:
3	chr4:144282645..144284355-chr4:144296664..144298307,2	MCF-7	breast:
4	chr4:144256496..144258835-chr4:144281268..144283636,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109458	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]
rs73853812	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
2	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:144276800-144284800	Weak transcription	Lung	lung
5	chr4:144277200-144284000	Enhancers	Fetal Intestine Large	intestine
6	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
7	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
8	chr4:144278200-144285400	Enhancers	Fetal Heart	heart
9	chr4:144279000-144283600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:144279600-144284200	Enhancers	Brain Anterior Caudate	brain
11	chr4:144279800-144286000	Enhancers	Brain Cingulate Gyrus	brain
12	chr4:144280200-144285400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:144280400-144284400	Enhancers	Colon Smooth Muscle	Colon
14	chr4:144280400-144285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:144280800-144283800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:144280800-144286000	Enhancers	Brain Hippocampus Middle	brain
17	chr4:144281000-144283800	Weak transcription	Right Atrium	heart
18	chr4:144281200-144283800	Weak transcription	Spleen	Spleen
19	chr4:144281200-144284400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:144281200-144284600	Weak transcription	Placenta	Placenta
21	chr4:144281200-144285200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:144281200-144285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:144281200-144285400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:144281200-144290000	Weak transcription	Fetal Stomach	stomach
25	chr4:144281200-144296800	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:144281400-144296800	Weak transcription	Fetal Kidney	kidney
27	chr4:144281800-144284200	Enhancers	Duodenum Mucosa	Duodenum
28	chr4:144281800-144286000	Enhancers	Brain Substantia Nigra	brain
29	chr4:144281800-144293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:144282000-144284800	Enhancers	Brain Angular Gyrus	brain
31	chr4:144282000-144291200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:144282200-144283600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:144282200-144284200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:144282200-144284200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:144282200-144285600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:144282400-144284600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr4:144282400-144285400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:144282600-144283800	Weak transcription	NH-A	brain
39	chr4:144282600-144284000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:144282600-144284000	Enhancers	Fetal Thymus	thymus
41	chr4:144282600-144284600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr4:144282600-144285000	Enhancers	Small Intestine	intestine
43	chr4:144282600-144285200	Enhancers	Left Ventricle	heart
44	chr4:144282600-144286000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:144282800-144284000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:144282800-144284200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:144282800-144284600	Enhancers	K562	blood
48	chr4:144282800-144284800	Enhancers	Brain Germinal Matrix	brain
49	chr4:144282800-144285400	Enhancers	Aorta	Aorta
50	chr4:144282800-144290600	Weak transcription	Fetal Lung	lung

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