Variant report

Variant	rs6872978
Chromosome Location	chr5:70758099-70758100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70750160..70755363-chr5:70755604..70762448,10	MCF-7	breast:
2	chr5:70752394..70753928-chr5:70756201..70758107,2	K562	blood:

Variant related genes	Relation type
ENSG00000145734	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10038709	0.87[ASN][1000 genomes]
rs10057258	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10079014	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1017225	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10942288	0.83[EUR][1000 genomes]
rs10942548	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11739723	0.83[ASN][1000 genomes]
rs12187886	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652916	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13169095	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13182226	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13183892	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs156756	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs157192	0.85[AMR][1000 genomes]
rs16871757	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1990996	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2059196	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276589	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs277927	0.83[AMR][1000 genomes]
rs277941	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277946	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277947	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277955	0.85[AMR][1000 genomes]
rs277982	0.82[AMR][1000 genomes]
rs277983	0.82[AMR][1000 genomes]
rs277988	0.83[AMR][1000 genomes]
rs277990	0.84[AMR][1000 genomes]
rs277991	0.85[AMR][1000 genomes]
rs277992	0.83[AMR][1000 genomes]
rs279289	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs368462	0.83[AMR][1000 genomes]
rs3761966	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs388918	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs411050	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs412766	0.84[AMR][1000 genomes]
rs421128	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs457889	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs458829	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4602607	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs461942	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs462534	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs464639	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs467880	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs467883	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468010	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs468796	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4703987	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704050	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55884527	0.83[ASN][1000 genomes]
rs561139	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs617876	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67735897	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7443752	0.85[ASN][1000 genomes]
rs7449303	0.82[ASN][1000 genomes]
rs875136	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9885334	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv528571	chr5:70679626-70767269	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70752600-70777200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:70752600-70789200	Weak transcription	Small Intestine	intestine
3	chr5:70752600-70794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:70752800-70759200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:70753000-70759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:70753000-70759600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:70753000-70781400	Weak transcription	Fetal Heart	heart
8	chr5:70753400-70758400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:70753400-70758400	Weak transcription	NHLF	lung
10	chr5:70753400-70771800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:70753600-70759200	Weak transcription	Fetal Brain Male	brain
12	chr5:70753600-70777800	Weak transcription	Stomach Mucosa	stomach
13	chr5:70753800-70760000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:70753800-70763800	Strong transcription	HSMM	muscle
15	chr5:70754200-70769600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:70754200-70815800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:70754400-70758600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:70754400-70759800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:70754400-70760200	Strong transcription	Hela-S3	cervix
20	chr5:70754400-70760400	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr5:70754400-70760400	Strong transcription	HUVEC	blood vessel
22	chr5:70754400-70761400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:70754400-70761600	Strong transcription	Thymus	Thymus
24	chr5:70754400-70761800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr5:70754400-70761800	Strong transcription	Ovary	ovary
26	chr5:70754400-70762200	Strong transcription	Brain Substantia Nigra	brain
27	chr5:70754400-70762200	Strong transcription	Fetal Muscle Leg	muscle
28	chr5:70754400-70762200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr5:70754400-70762400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:70754400-70763200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr5:70754400-70763200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr5:70754400-70763400	Strong transcription	A549	lung
33	chr5:70754400-70763400	Strong transcription	Osteobl	bone
34	chr5:70754400-70763600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:70754400-70763600	Strong transcription	Primary B cells from cord blood	blood
36	chr5:70754400-70763800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:70754400-70763800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:70754400-70763800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:70754400-70763800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:70754400-70764000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:70754400-70764600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr5:70754400-70764600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:70754400-70764800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:70754400-70765000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr5:70754400-70765400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:70754400-70767000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:70754400-70767800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:70754400-70768400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:70754400-70768400	Strong transcription	Liver	Liver
50	chr5:70754400-70768600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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