Variant report

Variant	rs57687393
Chromosome Location	chr8:126314770-126314771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126309031..126311192-chr8:126314077..126316163,2	K562	blood:
2	chr8:126306802..126309917-chr8:126312229..126314853,3	MCF-7	breast:
3	chr8:126313139..126314893-chr8:126441960..126444560,2	MCF-7	breast:
4	chr8:126314491..126316142-chr8:126318788..126320646,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56117234	1.00[EUR][1000 genomes]
rs56798105	1.00[EUR][1000 genomes]
rs56988673	1.00[EUR][1000 genomes]
rs57876250	1.00[EUR][1000 genomes]
rs58217279	1.00[EUR][1000 genomes]
rs58318216	1.00[EUR][1000 genomes]
rs58818314	1.00[EUR][1000 genomes]
rs59667546	1.00[EUR][1000 genomes]
rs60051203	1.00[EUR][1000 genomes]
rs60524861	1.00[EUR][1000 genomes]
rs6983990	1.00[EUR][1000 genomes]
rs6990205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992378	1.00[EUR][1000 genomes]
rs6992389	1.00[EUR][1000 genomes]
rs7001448	1.00[EUR][1000 genomes]
rs73336865	1.00[EUR][1000 genomes]
rs73704923	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704928	1.00[EUR][1000 genomes]
rs73704930	1.00[EUR][1000 genomes]
rs73704939	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704957	1.00[EUR][1000 genomes]
rs7814242	1.00[EUR][1000 genomes]
rs7820192	1.00[EUR][1000 genomes]
rs7820336	1.00[EUR][1000 genomes]
rs7822467	1.00[EUR][1000 genomes]
rs7834583	1.00[EUR][1000 genomes]
rs7839038	1.00[EUR][1000 genomes]
rs7839468	1.00[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
2	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:126301800-126319600	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:126302200-126318800	Weak transcription	Primary T cells from cord blood	blood
5	chr8:126302200-126318800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:126308000-126336000	Weak transcription	Psoas Muscle	Psoas
8	chr8:126309200-126314800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:126309200-126319200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:126309800-126315000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:126309800-126315000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:126310000-126319200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:126310800-126315000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:126310800-126315400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:126311200-126319000	Weak transcription	NHLF	lung
16	chr8:126311600-126315000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:126311800-126314800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:126311800-126314800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:126311800-126315000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:126311800-126315000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:126312400-126319200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:126312800-126320800	Weak transcription	Spleen	Spleen
23	chr8:126313000-126315000	Weak transcription	Brain Anterior Caudate	brain
24	chr8:126313000-126315000	Weak transcription	Lung	lung
25	chr8:126313000-126318800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:126313000-126319600	Weak transcription	Thymus	Thymus
27	chr8:126313200-126318800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:126313200-126320600	Weak transcription	Hela-S3	cervix
29	chr8:126313400-126315000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:126313400-126315000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:126313600-126314800	Weak transcription	A549	lung
32	chr8:126313600-126315000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:126313600-126315200	Weak transcription	Placenta	Placenta
34	chr8:126313600-126319000	Weak transcription	Osteobl	bone
35	chr8:126313600-126319400	Weak transcription	NH-A	brain
36	chr8:126313600-126320800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:126313600-126321600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:126314200-126315000	Enhancers	GM12878-XiMat	blood
39	chr8:126314200-126315400	Enhancers	Fetal Intestine Large	intestine
40	chr8:126314400-126314800	Enhancers	Fetal Heart	heart
41	chr8:126314400-126315000	Enhancers	HepG2	liver
42	chr8:126314400-126315400	Enhancers	Fetal Intestine Small	intestine
43	chr8:126314400-126315400	Enhancers	Gastric	stomach
44	chr8:126314400-126315600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:126314400-126315600	Enhancers	Duodenum Mucosa	Duodenum
46	chr8:126314400-126316000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr8:126314400-126316200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr8:126314400-126321600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:126314600-126315200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:126314600-126315200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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