Variant report

Variant	rs72647056
Chromosome Location	chr8:57911080-57911081
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	chr8:57904927..57909283-chr8:57909325..57913954,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104331	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28410202	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997875	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844631	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57907000-57911600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:57907000-57911800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:57907000-57911800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:57907000-57911800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:57907000-57911800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:57907200-57911200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:57907200-57911200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:57907200-57911600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:57907200-57911800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:57907200-57911800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:57907200-57911800	Weak transcription	Small Intestine	intestine
12	chr8:57907200-57911800	Weak transcription	Stomach Mucosa	stomach
13	chr8:57907200-57912000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:57907200-57912000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:57907200-57912000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:57907200-57912000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:57907200-57912000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:57907200-57912000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:57907400-57911600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:57907400-57912000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:57907600-57911200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:57907600-57911200	Weak transcription	Fetal Intestine Large	intestine
23	chr8:57907600-57911200	Weak transcription	Fetal Intestine Small	intestine
24	chr8:57907600-57911200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:57907600-57911600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:57907600-57911600	Weak transcription	Osteobl	bone
27	chr8:57907600-57912000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:57907600-57912000	Weak transcription	HMEC	breast
29	chr8:57907600-57913600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:57907800-57911200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:57907800-57911200	Weak transcription	HUVEC	blood vessel
32	chr8:57907800-57911800	Weak transcription	Hela-S3	cervix
33	chr8:57907800-57912000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:57908200-57912200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:57908400-57911800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:57908600-57911600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:57910200-57912000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:57910800-57911600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:57910800-57912000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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