Variant report

Variant	rs72715506
Chromosome Location	chr1:179264374-179264375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179263909..179265943-chr1:179276676..179278197,2	MCF-7	breast:
2	chr1:179260885..179265137-chr1:179333383..179339387,7	MCF-7	breast:
3	chr1:179050855..179052664-chr1:179261724..179264711,2	K562	blood:
4	chr1:179050855..179053575-chr1:179263211..179266215,3	K562	blood:
5	chr1:179110656..179113275-chr1:179262488..179264481,2	K562	blood:

Variant related genes	Relation type
ENSG00000162779	Chromatin interaction
ENSG00000143322	Chromatin interaction
ENSG00000186283	Chromatin interaction
ENSG00000263633	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11799509	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802378	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807230	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807239	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807253	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809032	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811569	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11811579	1.00[AFR][1000 genomes]
rs2636273	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2816182	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28913876	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28913894	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28914473	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28991582	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28991583	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28991584	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709451	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72709459	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709462	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709463	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709464	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709467	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709474	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709475	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709476	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709477	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709479	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709481	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709485	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709486	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709487	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709488	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709490	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709492	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709493	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709494	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709495	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709496	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709497	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709498	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711608	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711609	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711612	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711614	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711615	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713484	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713485	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717527	1.00[AFR][1000 genomes]
rs72719210	1.00[AFR][1000 genomes]
rs72719259	1.00[AFR][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	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179261800-179265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:179262200-179264400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:179262200-179264400	Active TSS	HSMM	muscle
4	chr1:179262200-179264800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:179262400-179264400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:179262400-179264400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:179262400-179264400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:179262400-179264400	Active TSS	Left Ventricle	heart
9	chr1:179262400-179264400	Active TSS	Ovary	ovary
10	chr1:179262400-179264600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:179262400-179264600	Active TSS	Brain Germinal Matrix	brain
12	chr1:179262400-179264600	Active TSS	Pancreas	Pancrea
13	chr1:179262400-179264600	Active TSS	Psoas Muscle	Psoas
14	chr1:179262400-179264800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:179262400-179264800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:179262600-179264400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:179262600-179264400	Active TSS	Brain Anterior Caudate	brain
18	chr1:179262600-179264400	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr1:179262600-179264600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:179262800-179264400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:179262800-179264600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:179262800-179264800	Active TSS	NHLF	lung
23	chr1:179263400-179264600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:179263400-179264800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:179263600-179264400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr1:179263600-179264400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr1:179263600-179264600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr1:179263600-179264800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr1:179263600-179264800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr1:179263600-179264800	Enhancers	Fetal Heart	heart
31	chr1:179263600-179266600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:179263800-179264400	Enhancers	Fetal Thymus	thymus
33	chr1:179263800-179264600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:179263800-179264600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr1:179263800-179264600	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr1:179263800-179264800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:179263800-179264800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:179263800-179264800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr1:179263800-179264800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr1:179263800-179264800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:179263800-179265000	Flanking Active TSS	Dnd41	blood
42	chr1:179263800-179267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:179263800-179268400	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:179263800-179304600	Weak transcription	Lung	lung
45	chr1:179263800-179306400	Weak transcription	Gastric	stomach
46	chr1:179264000-179264400	Flanking Active TSS	Liver	Liver
47	chr1:179264000-179264400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr1:179264000-179264400	Flanking Active TSS	Fetal Lung	lung
49	chr1:179264000-179264400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr1:179264000-179264400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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