Variant report

Variant	rs57929284
Chromosome Location	chr8:125522235-125522236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125521810..125524275-chr8:125525787..125528361,4	MCF-7	breast:
2	chr8:125485694..125489741-chr8:125521509..125524744,6	MCF-7	breast:
3	chr8:125484977..125488762-chr8:125516872..125524765,8	MCF-7	breast:
4	chr8:125510460..125512236-chr8:125521124..125522762,2	MCF-7	breast:
5	chr8:125521358..125524197-chr8:125550164..125552232,3	MCF-7	breast:
6	chr8:125516805..125520798-chr8:125521381..125525465,5	MCF-7	breast:
7	chr8:125503266..125503856-chr8:125521814..125522592,2	MCF-7	breast:
8	chr8:125521278..125528092-chr8:125529916..125534521,7	MCF-7	breast:
9	chr8:125505250..125507101-chr8:125521050..125523864,2	MCF-7	breast:
10	chr8:125521636..125524763-chr8:125550565..125553620,3	K562	blood:
11	chr8:125520394..125523282-chr8:125554552..125556147,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10195	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253319	0.97[ASN][1000 genomes]
rs16899643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899656	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899660	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298171	0.86[EUR][1000 genomes]
rs3812470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812473	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829033	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3829037	0.85[ASN][1000 genomes]
rs4330675	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527852	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4613980	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4621790	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6981043	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6989097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017148	0.88[ASN][1000 genomes]
rs71516748	0.97[ASN][1000 genomes]
rs72713019	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713023	0.85[EUR][1000 genomes]
rs72713032	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713042	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713045	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713053	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713055	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713059	0.86[EUR][1000 genomes]
rs72713071	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713084	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713096	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713098	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714708	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73704274	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643197	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:125489000-125541200	Weak transcription	Gastric	stomach
4	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
5	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
9	chr8:125500000-125526200	Weak transcription	Colonic Mucosa	Colon
10	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
12	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
13	chr8:125500200-125530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:125500400-125526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:125501600-125524600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:125501600-125535000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:125504000-125524800	Weak transcription	Pancreas	Pancrea
19	chr8:125504000-125525000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:125504000-125525800	Weak transcription	NHLF	lung
21	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
22	chr8:125505800-125538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:125506000-125538600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:125508400-125532200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:125510200-125536800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:125510400-125536200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:125510800-125532200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:125511600-125536400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:125512000-125536000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:125512200-125528000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:125512200-125530400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:125512200-125531600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:125512400-125522600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:125512400-125528200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr8:125512400-125535800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:125512400-125536400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:125512600-125522400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:125512600-125522600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:125512600-125531600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:125512600-125533800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr8:125512600-125535600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:125512800-125532200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:125512800-125535600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:125513200-125532400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:125513200-125535800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:125513400-125528600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:125513600-125524800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:125514400-125529400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:125514800-125523000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr8:125515600-125532200	Strong transcription	Primary T cells from cord blood	blood

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