Variant report

Variant	rs72667703
Chromosome Location	chr4:87812978-87812979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87515391..87517685-chr4:87812251..87815383,4	MCF-7	breast:
2	chr4:87514124..87517809-chr4:87811943..87814768,5	MCF-7	breast:
3	chr12:6832818..6833441-chr4:87812969..87813889,2	HCT-116	colon:
4	chr4:87812859..87813560-chr4:177116539..177117352,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000163629	Chromatin interaction
ENSG00000109339	Chromatin interaction
ENSG00000150628	Chromatin interaction
ENSG00000111652	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10011798	0.97[ASN][1000 genomes]
rs10015121	0.97[ASN][1000 genomes]
rs10015477	0.97[ASN][1000 genomes]
rs10015639	0.86[EUR][1000 genomes]
rs10021020	0.91[ASN][1000 genomes]
rs10021790	0.82[ASN][1000 genomes]
rs10034336	0.95[ASN][1000 genomes]
rs1010902	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1010903	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516786	0.86[EUR][1000 genomes]
rs11097124	0.93[EUR][1000 genomes]
rs13115795	0.93[ASN][1000 genomes]
rs13120981	0.91[ASN][1000 genomes]
rs13137483	0.91[ASN][1000 genomes]
rs17012132	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012170	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17012200	0.88[EUR][1000 genomes]
rs17012213	0.88[EUR][1000 genomes]
rs17012216	0.88[EUR][1000 genomes]
rs17751427	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17751557	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1985944	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053771	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2121871	0.91[ASN][1000 genomes]
rs28446826	0.96[ASN][1000 genomes]
rs28641910	0.97[ASN][1000 genomes]
rs28650493	0.97[ASN][1000 genomes]
rs28716151	0.91[ASN][1000 genomes]
rs35428486	0.90[ASN][1000 genomes]
rs4693153	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4693154	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4693795	0.89[EUR][1000 genomes]
rs55698195	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55831707	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55851914	0.88[EUR][1000 genomes]
rs56201068	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61651372	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6531941	0.86[EUR][1000 genomes]
rs6823051	0.93[ASN][1000 genomes]
rs6846822	0.97[ASN][1000 genomes]
rs72667705	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72667716	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72667721	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72667724	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72667727	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72667735	0.88[EUR][1000 genomes]
rs72667736	0.88[EUR][1000 genomes]
rs72667737	0.88[EUR][1000 genomes]
rs72667739	0.88[EUR][1000 genomes]
rs72667741	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87806800-87813000	Weak transcription	Left Ventricle	heart
2	chr4:87811800-87813000	Flanking Active TSS	NHEK	skin
3	chr4:87812000-87813800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr4:87812000-87814400	Active TSS	Esophagus	oesophagus
5	chr4:87812200-87813000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:87812200-87813000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:87812200-87814000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr4:87812400-87813000	ZNF genes & repeats	Fetal Brain Male	brain
9	chr4:87812400-87813400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:87812400-87813800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:87812400-87813800	Active TSS	Hela-S3	cervix
12	chr4:87812400-87814000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:87812600-87813000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:87812600-87813000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:87812600-87813000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr4:87812600-87813000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:87812600-87813000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:87812600-87813000	Flanking Active TSS	Fetal Kidney	kidney
19	chr4:87812600-87813000	Active TSS	Fetal Stomach	stomach
20	chr4:87812600-87813000	Flanking Active TSS	Stomach Mucosa	stomach
21	chr4:87812600-87813000	Flanking Active TSS	A549	lung
22	chr4:87812600-87813000	Active TSS	HMEC	breast
23	chr4:87812600-87813200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:87812600-87813200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:87812600-87813200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:87812600-87813200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr4:87812600-87813600	Active TSS	Pancreas	Pancrea
28	chr4:87812600-87813600	Active TSS	GM12878-XiMat	blood
29	chr4:87812600-87813800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:87812600-87813800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:87812600-87813800	Active TSS	Rectal Smooth Muscle	rectum
32	chr4:87812600-87813800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr4:87812600-87813800	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr4:87812600-87813800	Active TSS	Stomach Smooth Muscle	stomach
35	chr4:87812600-87813800	Active TSS	NHLF	lung
36	chr4:87812600-87814000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr4:87812600-87814000	Active TSS	Brain Hippocampus Middle	brain
38	chr4:87812600-87814000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:87812600-87814000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr4:87812600-87814200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr4:87812600-87814200	Active TSS	Brain Angular Gyrus	brain
42	chr4:87812600-87814200	Active TSS	Fetal Intestine Large	intestine
43	chr4:87812600-87814400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:87812600-87814400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr4:87812800-87813000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr4:87812800-87813000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr4:87812800-87813000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr4:87812800-87813000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
49	chr4:87812800-87813000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr4:87812800-87813000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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