Variant report

Variant	rs72955571
Chromosome Location	chr4:148742424-148742425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148735688..148738679-chr4:148741409..148744100,2	MCF-7	breast:
2	chr4:148722709..148724828-chr4:148742107..148743929,2	MCF-7	breast:
3	chr4:148605030..148606697-chr4:148741931..148744308,2	MCF-7	breast:
4	chr4:148643022..148644770-chr4:148741282..148743199,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10013038	1.00[EUR][1000 genomes]
rs10022144	1.00[EUR][1000 genomes]
rs1036441	1.00[EUR][1000 genomes]
rs10519918	1.00[EUR][1000 genomes]
rs11723235	1.00[EUR][1000 genomes]
rs11725005	1.00[EUR][1000 genomes]
rs13147854	1.00[EUR][1000 genomes]
rs17023955	1.00[AMR][1000 genomes]
rs2118034	1.00[EUR][1000 genomes]
rs4240340	1.00[EUR][1000 genomes]
rs4240342	1.00[EUR][1000 genomes]
rs4835102	1.00[EUR][1000 genomes]
rs4835104	1.00[EUR][1000 genomes]
rs4835105	1.00[EUR][1000 genomes]
rs4835462	1.00[EUR][1000 genomes]
rs4835465	1.00[EUR][1000 genomes]
rs4835467	1.00[EUR][1000 genomes]
rs6535564	1.00[EUR][1000 genomes]
rs6535566	1.00[EUR][1000 genomes]
rs6852320	1.00[EUR][1000 genomes]
rs6853610	1.00[EUR][1000 genomes]
rs72955575	1.00[AMR][1000 genomes]
rs72957736	1.00[AMR][1000 genomes]
rs7435763	1.00[EUR][1000 genomes]
rs7654818	1.00[EUR][1000 genomes]
rs7661267	1.00[EUR][1000 genomes]
rs7687859	1.00[EUR][1000 genomes]
rs7700162	1.00[EUR][1000 genomes]
rs893030	1.00[EUR][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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:148732600-148744000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:148734000-148742800	Weak transcription	Fetal Lung	lung
4	chr4:148734600-148761000	Weak transcription	Fetal Kidney	kidney
5	chr4:148735800-148742800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:148737000-148747200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:148737200-148758200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:148737600-148742600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr4:148737600-148742800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:148737600-148742800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:148737600-148746800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:148737600-148747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:148737600-148747000	Weak transcription	Gastric	stomach
14	chr4:148737600-148750400	Weak transcription	Lung	lung
15	chr4:148737600-148751000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:148737800-148751400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:148737800-148755400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:148737800-148757000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
20	chr4:148738600-148750400	Weak transcription	Placenta	Placenta
21	chr4:148741000-148744200	Enhancers	Stomach Smooth Muscle	stomach
22	chr4:148741000-148744600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:148741200-148743400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:148741200-148744200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:148741400-148754000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:148741600-148743400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:148741800-148743600	Enhancers	HMEC	breast
28	chr4:148741800-148744400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:148742000-148742600	Enhancers	Fetal Muscle Trunk	muscle
30	chr4:148742000-148742600	Enhancers	Left Ventricle	heart
31	chr4:148742000-148744000	Enhancers	Ovary	ovary
32	chr4:148742000-148744400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:148742000-148744400	Enhancers	Right Atrium	heart
34	chr4:148742000-148744400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr4:148742000-148744600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:148742000-148745000	Enhancers	Fetal Muscle Leg	muscle
37	chr4:148742000-148745000	Enhancers	Psoas Muscle	Psoas
38	chr4:148742200-148742600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:148742200-148742600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:148742200-148742600	Enhancers	Right Ventricle	heart
41	chr4:148742200-148742600	Enhancers	Spleen	Spleen
42	chr4:148742200-148742600	Enhancers	GM12878-XiMat	blood
43	chr4:148742200-148742800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:148742200-148743200	Enhancers	Esophagus	oesophagus
45	chr4:148742200-148743400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:148742200-148743600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr4:148742200-148743600	Enhancers	Brain Anterior Caudate	brain
48	chr4:148742200-148743600	Enhancers	HUVEC	blood vessel
49	chr4:148742200-148743800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:148742200-148743800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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