Variant report

Variant	rs7701321
Chromosome Location	chr5:112456258-112456259
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112455253..112458185-chr5:112461323..112464102,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11241194	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs13178451	0.84[GIH][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes]
rs13328205	0.84[ASN][1000 genomes]
rs13362473	0.83[ASN][1000 genomes]
rs1822490	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2197278	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs57044242	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57683399	0.81[ASN][1000 genomes]
rs58169183	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58531861	0.93[ASN][1000 genomes]
rs59490914	0.83[ASN][1000 genomes]
rs59494679	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60853585	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73239115	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7722357	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7731284	0.88[CHB][hapmap]
rs7735738	1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112431200-112461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:112434000-112459200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:112450000-112459200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:112451000-112460600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
6	chr5:112452600-112456800	Enhancers	Fetal Stomach	stomach
7	chr5:112452800-112457200	Enhancers	Left Ventricle	heart
8	chr5:112453600-112457200	Enhancers	Right Atrium	heart
9	chr5:112453800-112461800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:112454200-112457600	Enhancers	Liver	Liver
11	chr5:112454600-112457200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:112454600-112459000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:112454600-112459400	Enhancers	NHDF-Ad	bronchial
14	chr5:112454600-112460600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:112454800-112460400	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:112454800-112460600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:112455000-112456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:112455000-112460000	Weak transcription	Fetal Brain Male	brain
19	chr5:112455000-112462200	Enhancers	Fetal Heart	heart
20	chr5:112455200-112459200	Weak transcription	Pancreas	Pancrea
21	chr5:112455200-112459400	Weak transcription	Brain Germinal Matrix	brain
22	chr5:112455200-112459400	Weak transcription	Fetal Brain Female	brain
23	chr5:112455400-112456400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:112455400-112458000	Weak transcription	NHLF	lung
25	chr5:112455400-112458400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:112455400-112459200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:112455400-112459200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:112455400-112459600	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:112455400-112460200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:112455400-112461400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:112455400-112461400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:112455600-112456600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:112455600-112456800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:112455600-112456800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:112455600-112457400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:112455600-112457400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:112455600-112457400	Weak transcription	Adipose Nuclei	Adipose
38	chr5:112455600-112458200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:112455600-112460000	Weak transcription	Fetal Lung	lung
40	chr5:112455800-112456600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:112455800-112457400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:112455800-112457400	Weak transcription	Osteobl	bone
43	chr5:112456000-112456600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:112456000-112457000	Weak transcription	Psoas Muscle	Psoas
45	chr5:112456000-112457000	Weak transcription	NHEK	skin
46	chr5:112456000-112458200	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:112456200-112456600	Weak transcription	Ovary	ovary
48	chr5:112456200-112457200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:112456200-112458600	Enhancers	HMEC	breast
50	chr5:112456200-112459200	Weak transcription	Right Ventricle	heart

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