Variant report

Variant	rs7730283
Chromosome Location	chr5:167373655-167373656
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	chr5:167361443..167363556-chr5:167372770..167374605,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145934	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10038819	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075943	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1421977	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35278978	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7724997	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:167364400-167376400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:167367200-167377600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:167367600-167378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:167369200-167378200	Enhancers	HSMM	muscle
5	chr5:167369600-167375400	Enhancers	Fetal Heart	heart
6	chr5:167369800-167374600	Enhancers	NH-A	brain
7	chr5:167370000-167377400	Enhancers	HSMMtube	muscle
8	chr5:167370000-167378200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:167370200-167374600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:167370600-167374000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:167371200-167374800	Enhancers	Osteobl	bone
12	chr5:167371400-167374800	Enhancers	Fetal Muscle Leg	muscle
13	chr5:167371400-167375000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:167371800-167374000	Enhancers	Colon Smooth Muscle	Colon
15	chr5:167371800-167377400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:167372200-167373800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:167372200-167373800	Enhancers	Fetal Stomach	stomach
18	chr5:167372200-167374200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:167372200-167374800	Enhancers	Ovary	ovary
20	chr5:167372200-167375200	Enhancers	Rectal Smooth Muscle	rectum
21	chr5:167372600-167375000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:167372800-167373800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr5:167372800-167373800	Enhancers	Lung	lung
24	chr5:167372800-167374000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:167372800-167374000	Enhancers	Left Ventricle	heart
26	chr5:167372800-167374600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:167372800-167374600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:167372800-167378200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:167373000-167373800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:167373000-167376200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:167373200-167373800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:167373200-167374400	Weak transcription	Fetal Lung	lung
33	chr5:167373200-167377000	Weak transcription	Fetal Brain Male	brain
34	chr5:167373200-167377200	Weak transcription	Fetal Kidney	kidney
35	chr5:167373200-167378000	Enhancers	HMEC	breast
36	chr5:167373400-167373800	Enhancers	Hela-S3	cervix
37	chr5:167373400-167374200	Enhancers	Stomach Smooth Muscle	stomach
38	chr5:167373400-167374800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:167373400-167376000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:167373400-167376000	Weak transcription	NHEK	skin
41	chr5:167373400-167376800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:167373400-167377000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:167373400-167377400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:167373400-167378000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:167373400-167378000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:167373400-167378000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:167373400-167378200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:167373400-167378600	Weak transcription	Esophagus	oesophagus
49	chr5:167373600-167374000	Weak transcription	Right Ventricle	heart
50	chr5:167373600-167374200	Enhancers	Right Atrium	heart

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