Variant report

Variant	rs66488204
Chromosome Location	chr4:148747832-148747833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148651674..148654444-chr4:148747650..148753714,7	MCF-7	breast:
2	chr4:148733282..148735800-chr4:148746923..148749259,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10004850	1.00[ASN][1000 genomes]
rs10007231	0.94[ASN][1000 genomes]
rs10018820	0.91[ASN][1000 genomes]
rs10018903	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021936	0.93[ASN][1000 genomes]
rs10022691	0.94[ASN][1000 genomes]
rs10025684	0.96[ASN][1000 genomes]
rs10029385	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10030513	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11724795	0.86[EUR][1000 genomes]
rs12641291	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647314	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13116821	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13129747	1.00[ASN][1000 genomes]
rs13434396	0.94[ASN][1000 genomes]
rs1347596	0.82[ASN][1000 genomes]
rs1436489	0.91[ASN][1000 genomes]
rs1436490	0.97[ASN][1000 genomes]
rs17023919	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023995	0.97[ASN][1000 genomes]
rs28662484	0.95[ASN][1000 genomes]
rs35115631	1.00[ASN][1000 genomes]
rs4240338	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4240339	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4419463	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4835461	0.83[ASN][1000 genomes]
rs62330695	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6839440	0.89[ASN][1000 genomes]
rs7655236	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7666127	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs893022	0.84[EUR][1000 genomes]
rs9995896	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9996108	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996209	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148734600-148761000	Weak transcription	Fetal Kidney	kidney
2	chr4:148737200-148758200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:148737600-148750400	Weak transcription	Lung	lung
4	chr4:148737600-148751000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:148737800-148751400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:148737800-148755400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:148737800-148757000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
9	chr4:148738600-148750400	Weak transcription	Placenta	Placenta
10	chr4:148741400-148754000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:148742600-148751000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:148743000-148750400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
14	chr4:148743400-148749400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:148743600-148750600	Weak transcription	Fetal Lung	lung
16	chr4:148743600-148752000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:148743600-148752200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:148743600-148755400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:148743800-148750400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:148743800-148750600	Weak transcription	Small Intestine	intestine
21	chr4:148743800-148750800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:148743800-148751000	Weak transcription	Fetal Thymus	thymus
23	chr4:148744400-148748000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:148744400-148750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:148746200-148754000	Weak transcription	Brain Substantia Nigra	brain
26	chr4:148746400-148750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:148746400-148751000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:148746400-148768000	Weak transcription	Fetal Intestine Small	intestine
29	chr4:148746600-148748800	Genic enhancers	Fetal Muscle Leg	muscle
30	chr4:148746600-148753400	Enhancers	Fetal Heart	heart
31	chr4:148746800-148748400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:148747000-148748000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr4:148747000-148750800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:148747200-148749600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:148747400-148748400	Enhancers	HSMM	muscle
36	chr4:148747400-148750800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:148747400-148753000	Enhancers	HSMMtube	muscle
38	chr4:148747600-148748000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:148747600-148748200	Enhancers	HMEC	breast
40	chr4:148747600-148748600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:148747600-148749000	Enhancers	Stomach Smooth Muscle	stomach
42	chr4:148747600-148749400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:148747600-148749400	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:148747600-148749600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:148747600-148749600	Weak transcription	Adipose Nuclei	Adipose
46	chr4:148747600-148750400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr4:148747600-148750600	Weak transcription	HUVEC	blood vessel
48	chr4:148747600-148750600	Weak transcription	NH-A	brain
49	chr4:148747600-148750800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:148747600-148750800	Weak transcription	Right Ventricle	heart

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