Variant report

Variant	rs12678042
Chromosome Location	chr8:63947756-63947757
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	chr8:63946809..63948875-chr8:63975439..63976973,2	K562	blood:
2	chr8:63942745..63944256-chr8:63945924..63947787,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137563	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10464903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10464904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10464905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10957265	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10957266	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10957268	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10957269	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10957270	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12056582	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12541047	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12541993	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12543020	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12543961	0.82[AMR][1000 genomes]
rs12545230	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12545245	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12547772	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12548729	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12549172	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12675369	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12676348	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12678214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681795	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12682385	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16929963	0.84[AMR][1000 genomes]
rs16929988	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1963949	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4534128	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4737621	0.82[AMR][1000 genomes]
rs4737626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4737627	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4737629	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4739028	0.81[AMR][1000 genomes]
rs4739031	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4739032	1.00[EUR][1000 genomes]
rs4739046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4739047	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73272418	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73684520	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818582	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs930840	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9643545	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[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	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
2	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:63922800-63950000	Weak transcription	HMEC	breast
4	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
6	chr8:63926200-63949000	Weak transcription	Brain Germinal Matrix	brain
7	chr8:63926200-63949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:63929200-63949200	Weak transcription	Fetal Brain Male	brain
9	chr8:63931400-63950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:63935400-63949200	Weak transcription	K562	blood
11	chr8:63935800-63950000	Weak transcription	NHDF-Ad	bronchial
12	chr8:63936200-63949600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:63936400-63948800	Weak transcription	GM12878-XiMat	blood
14	chr8:63936400-63949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:63936800-63949800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:63936800-63949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:63938000-63949200	Weak transcription	NHEK	skin
18	chr8:63938000-63950000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:63938200-63950600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:63938600-63948600	Weak transcription	NH-A	brain
21	chr8:63938600-63949200	Weak transcription	HUVEC	blood vessel
22	chr8:63939200-63950000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:63939600-63949200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:63941200-63949600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:63941400-63948600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:63942000-63949000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:63942600-63950000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:63943400-63949000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:63943600-63949600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:63943800-63949000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:63944200-63948800	Weak transcription	Liver	Liver
32	chr8:63944400-63948600	Weak transcription	HepG2	liver
33	chr8:63945800-63949200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:63945800-63949800	Weak transcription	Fetal Intestine Large	intestine
35	chr8:63945800-63950600	Weak transcription	Fetal Intestine Small	intestine
36	chr8:63945800-63950800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:63946000-63949000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:63946000-63949800	Weak transcription	A549	lung
39	chr8:63946000-63950600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:63946000-63950800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:63947400-63949800	Weak transcription	Hela-S3	cervix

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