Variant report

Variant	rs57743690
Chromosome Location	chr4:144279671-144279672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144279254..144282177-chr4:144295139..144296728,2	MCF-7	breast:
2	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:
3	chr4:144264438..144268402-chr4:144278355..144282865,4	K562	blood:
4	chr4:144262793..144271335-chr4:144272377..144280163,14	K562	blood:
5	chr4:144278484..144280281-chr4:144303228..144305385,2	MCF-7	breast:
6	chr4:144256714..144259978-chr4:144276972..144280167,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228981	Chromatin interaction
ENSG00000265623	Chromatin interaction
ENSG00000109458	Chromatin interaction
ENSG00000178972	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[AMR][1000 genomes]
rs28925883	1.00[AMR][1000 genomes]
rs28989205	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28989218	1.00[AMR][1000 genomes]
rs28989233	1.00[AMR][1000 genomes]
rs55683567	1.00[AMR][1000 genomes]
rs55789823	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55872942	1.00[AMR][1000 genomes]
rs56372904	1.00[AMR][1000 genomes]
rs57024421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57336725	1.00[AMR][1000 genomes]
rs57368559	1.00[AMR][1000 genomes]
rs57674712	1.00[AMR][1000 genomes]
rs60891033	1.00[AMR][1000 genomes]
rs61193096	1.00[AMR][1000 genomes]
rs61288732	1.00[AMR][1000 genomes]
rs61681472	0.84[AFR][1000 genomes];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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853812	1.00[AMR][1000 genomes]
rs73853814	1.00[AMR][1000 genomes]
rs73853816	1.00[AMR][1000 genomes]
rs73853818	1.00[AMR][1000 genomes]
rs73853824	1.00[AMR][1000 genomes]
rs73853832	1.00[AMR][1000 genomes]
rs73853834	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:101 , 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	chr4:144272800-144280200	Enhancers	Colon Smooth Muscle	Colon
3	chr4:144272800-144281200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
5	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:144275200-144279800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:144275800-144283000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:144276200-144280800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:144276200-144283000	Enhancers	HMEC	breast
10	chr4:144276400-144280400	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:144276400-144281200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:144276800-144280600	Weak transcription	Esophagus	oesophagus
14	chr4:144276800-144284800	Weak transcription	Lung	lung
15	chr4:144277000-144280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:144277000-144280000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:144277000-144280000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:144277000-144280000	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:144277000-144280000	Weak transcription	Right Atrium	heart
20	chr4:144277000-144280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:144277000-144280600	Weak transcription	Ovary	ovary
22	chr4:144277000-144282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:144277000-144282800	Enhancers	Fetal Lung	lung
24	chr4:144277200-144279800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr4:144277200-144280000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:144277200-144280000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:144277200-144280000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:144277200-144280000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:144277200-144280600	Weak transcription	Spleen	Spleen
30	chr4:144277200-144281800	Weak transcription	HSMM	muscle
31	chr4:144277200-144284000	Enhancers	Fetal Intestine Large	intestine
32	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
33	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
34	chr4:144277600-144279800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:144277600-144280000	Weak transcription	NH-A	brain
36	chr4:144277800-144279800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:144277800-144280000	Weak transcription	Right Ventricle	heart
38	chr4:144277800-144281200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:144278000-144280000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:144278000-144280000	Weak transcription	Adipose Nuclei	Adipose
41	chr4:144278000-144280000	Weak transcription	Left Ventricle	heart
42	chr4:144278000-144280000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr4:144278000-144280200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:144278000-144280200	Weak transcription	NHLF	lung
45	chr4:144278000-144280400	Weak transcription	Fetal Brain Male	brain
46	chr4:144278000-144282200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:144278200-144279800	Weak transcription	Brain Germinal Matrix	brain
48	chr4:144278200-144280000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:144278200-144280000	Enhancers	Primary B cells from cord blood	blood
50	chr4:144278200-144285400	Enhancers	Fetal Heart	heart

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