Variant report

Variant	rs721065
Chromosome Location	chr5:118127739-118127740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118122820..118124504-chr5:118126340..118128643,2	K562	blood:
2	chr5:118034173..118035130-chr5:118126969..118128409,6	MCF-7	breast:
3	chr16:14311721..14312241-chr5:118127410..118128139,2	MCF-7	breast:
4	chr5:118126334..118128715-chr5:118291929..118293772,2	MCF-7	breast:
5	chr5:117946766..117947670-chr5:118127610..118128249,2	MCF-7	breast:
6	chr5:117953386..117954146-chr5:118127518..118128022,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1110512	0.90[ASN][1000 genomes]
rs12109024	0.85[CEU][hapmap]
rs12110125	0.90[ASN][1000 genomes]
rs12110151	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12110310	0.96[ASN][1000 genomes]
rs1448479	1.00[JPT][hapmap]
rs1559072	0.93[ASN][1000 genomes]
rs17144517	0.84[ASN][1000 genomes]
rs17144523	0.84[ASN][1000 genomes]
rs17144550	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17144554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17144584	0.90[ASN][1000 genomes]
rs17144626	0.87[CEU][hapmap];0.80[AMR][1000 genomes]
rs17144630	0.87[CEU][hapmap];0.91[AMR][1000 genomes]
rs17144660	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1835048	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34694285	0.84[ASN][1000 genomes]
rs56283865	0.97[AFR][1000 genomes]
rs6595162	0.87[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6595164	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6868863	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6897505	0.94[AFR][1000 genomes]
rs721066	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73251330	0.95[AFR][1000 genomes]
rs73789377	0.93[ASN][1000 genomes]
rs7710339	1.00[JPT][hapmap]
rs7719304	0.90[ASN][1000 genomes]
rs888710	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv882768	chr5:118088385-118133786	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv882770	chr5:118089798-118133786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118126400-118127800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:118126600-118127800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:118126600-118128200	Enhancers	Brain Substantia Nigra	brain
4	chr5:118126600-118128600	Enhancers	Ovary	ovary
5	chr5:118126600-118131200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:118126800-118127800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:118126800-118128400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:118126800-118129600	Enhancers	Fetal Stomach	stomach
9	chr5:118127000-118127800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:118127000-118127800	Enhancers	Fetal Heart	heart
11	chr5:118127000-118127800	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:118127000-118128000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:118127000-118128200	Enhancers	Brain Cingulate Gyrus	brain
14	chr5:118127000-118128400	Enhancers	Brain Angular Gyrus	brain
15	chr5:118127000-118129600	Enhancers	Fetal Muscle Leg	muscle
16	chr5:118127000-118130200	Enhancers	Liver	Liver
17	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:118127200-118127800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:118127200-118127800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:118127200-118127800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:118127200-118127800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:118127200-118128200	Enhancers	Fetal Intestine Small	intestine
23	chr5:118127400-118127800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:118127400-118127800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:118127400-118127800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:118127400-118127800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:118127400-118127800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:118127400-118127800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:118127400-118127800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:118127400-118127800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:118127400-118127800	Enhancers	Adipose Nuclei	Adipose
32	chr5:118127400-118127800	Active TSS	Brain Anterior Caudate	brain
33	chr5:118127400-118127800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr5:118127400-118127800	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr5:118127400-118127800	Flanking Active TSS	Fetal Brain Male	brain
36	chr5:118127400-118127800	Enhancers	Fetal Brain Female	brain
37	chr5:118127400-118127800	Active TSS	Psoas Muscle	Psoas
38	chr5:118127400-118127800	Active TSS	Right Atrium	heart
39	chr5:118127400-118127800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr5:118127400-118127800	Active TSS	NHDF-Ad	bronchial
41	chr5:118127400-118128000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr5:118127400-118128000	Active TSS	Osteobl	bone
43	chr5:118127400-118131200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:118127600-118127800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr5:118127600-118127800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:118127600-118127800	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr5:118127600-118127800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr5:118127600-118127800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr5:118127600-118128000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:118127600-118128000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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