Variant report

Variant	rs7672409
Chromosome Location	chr4:148750629-148750630
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:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10461235	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11724795	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12650219	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13116821	0.82[ASN][1000 genomes]
rs1347596	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1436489	0.82[ASN][1000 genomes]
rs2043644	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4835461	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62330695	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs893022	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[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:81 , 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	chr4:148737600-148751000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:148737800-148751400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:148737800-148755400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:148737800-148757000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
8	chr4:148741400-148754000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:148742600-148751000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
11	chr4:148743600-148752000	Weak transcription	Brain Anterior Caudate	brain
12	chr4:148743600-148752200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:148743600-148755400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:148743800-148750800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:148743800-148751000	Weak transcription	Fetal Thymus	thymus
16	chr4:148746200-148754000	Weak transcription	Brain Substantia Nigra	brain
17	chr4:148746400-148751000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:148746400-148768000	Weak transcription	Fetal Intestine Small	intestine
19	chr4:148746600-148753400	Enhancers	Fetal Heart	heart
20	chr4:148747000-148750800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:148747400-148750800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:148747400-148753000	Enhancers	HSMMtube	muscle
23	chr4:148747600-148750800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:148747600-148750800	Weak transcription	Right Ventricle	heart
25	chr4:148747600-148751200	Weak transcription	Stomach Mucosa	stomach
26	chr4:148747600-148751800	Weak transcription	Osteobl	bone
27	chr4:148747600-148752400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:148747800-148751200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:148747800-148752200	Weak transcription	GM12878-XiMat	blood
30	chr4:148747800-148754600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:148748600-148750800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:148749000-148751200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:148749000-148752400	Enhancers	Psoas Muscle	Psoas
34	chr4:148749000-148753200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:148749200-148750800	Enhancers	NHEK	skin
36	chr4:148749200-148752800	Enhancers	NHDF-Ad	bronchial
37	chr4:148749200-148754600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:148749400-148750800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:148749400-148750800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr4:148749400-148753600	Enhancers	Colon Smooth Muscle	Colon
41	chr4:148749400-148754000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:148749400-148754000	Enhancers	HSMM	muscle
43	chr4:148749400-148754800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:148749400-148754800	Enhancers	HMEC	breast
45	chr4:148749400-148758000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:148749600-148752800	Enhancers	Adipose Nuclei	Adipose
47	chr4:148749600-148753000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:148749600-148753400	Enhancers	Left Ventricle	heart
49	chr4:148749600-148753400	Enhancers	Ovary	ovary
50	chr4:148749600-148753400	Enhancers	Rectal Smooth Muscle	rectum

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