Variant report

Variant	rs1388993
Chromosome Location	chr4:125349168-125349169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125332025..125334312-chr4:125349004..125351907,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1388995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1492751	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1586892	1.00[EUR][1000 genomes]
rs17008215	1.00[EUR][1000 genomes]
rs17008226	1.00[EUR][1000 genomes]
rs17008247	1.00[EUR][1000 genomes]
rs2100621	1.00[EUR][1000 genomes]
rs2893091	1.00[EUR][1000 genomes]
rs57627207	1.00[EUR][1000 genomes]
rs58898118	1.00[EUR][1000 genomes]
rs6836310	1.00[AMR][1000 genomes]
rs6836666	1.00[AMR][1000 genomes]
rs72921132	1.00[AMR][1000 genomes]
rs72923360	1.00[EUR][1000 genomes]
rs72923361	1.00[EUR][1000 genomes]
rs72923363	1.00[EUR][1000 genomes]
rs72923389	1.00[EUR][1000 genomes]
rs72923400	1.00[EUR][1000 genomes]
rs7667465	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv432624	chr4:125013395-125367740	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv998024	chr4:125019384-125380876	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537241	chr4:125019384-125380876	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1015049	chr4:125037090-125393067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125343200-125350200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:125344000-125350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:125344600-125350400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:125344600-125350400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:125344600-125350400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:125344800-125350200	Weak transcription	Osteobl	bone
7	chr4:125344800-125350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:125345200-125350400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:125347600-125350200	Enhancers	HUVEC	blood vessel
10	chr4:125348200-125349200	Weak transcription	Colonic Mucosa	Colon
11	chr4:125348200-125351000	Enhancers	Liver	Liver
12	chr4:125348400-125349400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:125348400-125349400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:125348400-125349400	Enhancers	Adipose Nuclei	Adipose
15	chr4:125348400-125349400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:125348400-125349400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:125348400-125349400	Enhancers	Stomach Mucosa	stomach
18	chr4:125348400-125350400	Enhancers	A549	lung
19	chr4:125348400-125353400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:125348600-125349200	Enhancers	NHDF-Ad	bronchial
21	chr4:125348600-125349200	Enhancers	NHEK	skin
22	chr4:125348600-125349400	Enhancers	Psoas Muscle	Psoas
23	chr4:125348600-125349400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr4:125348600-125349600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:125348600-125350400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:125348800-125350000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:125348800-125350200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:125348800-125350200	Weak transcription	Fetal Lung	lung
29	chr4:125348800-125350400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:125348800-125353000	Weak transcription	Gastric	stomach
31	chr4:125349000-125349400	Enhancers	Esophagus	oesophagus
32	chr4:125349000-125349400	Enhancers	Fetal Muscle Trunk	muscle
33	chr4:125349000-125349400	Enhancers	Lung	lung
34	chr4:125349000-125349400	Enhancers	Right Atrium	heart
35	chr4:125349000-125350400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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