Variant report

Variant	rs7678505
Chromosome Location	chr4:148751390-148751391
allele	C/G
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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4292310	1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4835459	1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4835462	0.83[AFR][1000 genomes]
rs73853983	0.86[EUR][1000 genomes]
rs7670230	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893023	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307843	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3434311	chr4:148751171-148751466	Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:86 , 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	chr4:148737800-148751400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr4:148737800-148755400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:148737800-148757000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
7	chr4:148741400-148754000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
9	chr4:148743600-148752000	Weak transcription	Brain Anterior Caudate	brain
10	chr4:148743600-148752200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:148743600-148755400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:148746200-148754000	Weak transcription	Brain Substantia Nigra	brain
13	chr4:148746400-148768000	Weak transcription	Fetal Intestine Small	intestine
14	chr4:148746600-148753400	Enhancers	Fetal Heart	heart
15	chr4:148747400-148753000	Enhancers	HSMMtube	muscle
16	chr4:148747600-148751800	Weak transcription	Osteobl	bone
17	chr4:148747600-148752400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:148747800-148752200	Weak transcription	GM12878-XiMat	blood
19	chr4:148747800-148754600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:148749000-148752400	Enhancers	Psoas Muscle	Psoas
21	chr4:148749000-148753200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:148749200-148752800	Enhancers	NHDF-Ad	bronchial
23	chr4:148749200-148754600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:148749400-148753600	Enhancers	Colon Smooth Muscle	Colon
25	chr4:148749400-148754000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:148749400-148754000	Enhancers	HSMM	muscle
27	chr4:148749400-148754800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:148749400-148754800	Enhancers	HMEC	breast
29	chr4:148749400-148758000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:148749600-148752800	Enhancers	Adipose Nuclei	Adipose
31	chr4:148749600-148753000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:148749600-148753400	Enhancers	Left Ventricle	heart
33	chr4:148749600-148753400	Enhancers	Ovary	ovary
34	chr4:148749600-148753400	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:148749600-148753600	Enhancers	Fetal Muscle Leg	muscle
36	chr4:148749800-148753200	Enhancers	NHLF	lung
37	chr4:148750000-148752200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:148750000-148753200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr4:148750200-148753400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:148750400-148751400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr4:148750400-148752400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr4:148750400-148752600	Enhancers	Right Atrium	heart
43	chr4:148750400-148753200	Enhancers	Lung	lung
44	chr4:148750400-148753400	Enhancers	Aorta	Aorta
45	chr4:148750400-148753400	Enhancers	Placenta	Placenta
46	chr4:148750400-148753400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr4:148750400-148753800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr4:148750600-148751400	Genic enhancers	Fetal Stomach	stomach
49	chr4:148750600-148751400	Enhancers	Small Intestine	intestine
50	chr4:148750600-148751400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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