Variant report

Variant	rs11987254
Chromosome Location	chr8:67526863-67526864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr8:67525255-67527027	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:67524635-67526953	Raji	blood:	n/a	n/a
3	POLR2A	chr8:67525304-67526984	GM12891	blood:	n/a	n/a
4	HCFC1	chr8:67524515-67527002	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr8:67524419-67526959	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67523974..67528801-chr8:67579151..67581998,7	K562	blood:
2	chr8:67371423..67376205-chr8:67520601..67527002,8	MCF-7	breast:
3	chr8:67523934..67528477-chr8:67576797..67579768,6	MCF-7	breast:
4	chr8:67524099..67528801-chr8:67579151..67581449,5	K562	blood:

Variant related genes	Relation type
MYBL1	TF binding region
ENSG00000175073	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000169085	Chromatin interaction
ENSG00000270024	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10504393	1.00[EUR][1000 genomes]
rs11986831	1.00[EUR][1000 genomes]
rs11987253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987271	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988213	1.00[EUR][1000 genomes]
rs11990322	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992252	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	1.00[EUR][1000 genomes]
rs11993306	1.00[ASN][1000 genomes]
rs11993354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994827	1.00[EUR][1000 genomes]
rs11995031	1.00[EUR][1000 genomes]
rs11995253	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995291	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997554	1.00[EUR][1000 genomes]
rs11998194	1.00[EUR][1000 genomes]
rs12114868	0.96[EUR][1000 genomes]
rs16932983	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932985	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933013	1.00[EUR][1000 genomes]
rs16933026	0.96[EUR][1000 genomes]
rs16933032	1.00[EUR][1000 genomes]
rs2357998	1.00[EUR][1000 genomes]
rs2358000	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28432871	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572179	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589429	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301114	1.00[EUR][1000 genomes]
rs35078037	1.00[EUR][1000 genomes]
rs35353562	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808602	1.00[EUR][1000 genomes]
rs3824258	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345540	1.00[EUR][1000 genomes]
rs56682762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742359	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56810217	1.00[EUR][1000 genomes]
rs56911449	0.96[EUR][1000 genomes]
rs57125106	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57351080	1.00[EUR][1000 genomes]
rs57858031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454063	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58806068	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59089124	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59410806	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59643912	1.00[EUR][1000 genomes]
rs60165103	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60655524	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60784079	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469007	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982202	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982407	1.00[EUR][1000 genomes]
rs6986439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986940	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988670	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991992	1.00[EUR][1000 genomes]
rs6998505	0.96[EUR][1000 genomes]
rs6998718	1.00[EUR][1000 genomes]
rs7003548	1.00[EUR][1000 genomes]
rs7008740	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248113	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248122	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248134	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248138	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250233	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250238	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250241	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250249	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73251887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253909	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	1.00[EUR][1000 genomes]
rs73253968	1.00[EUR][1000 genomes]
rs73261704	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261763	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261767	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828492	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830436	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840192	1.00[EUR][1000 genomes]
rs7844944	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67522600-67527000	Active TSS	NHLF	lung
2	chr8:67523800-67527000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:67524200-67527000	Active TSS	A549	lung
4	chr8:67524600-67527000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr8:67524600-67527000	Active TSS	Right Atrium	heart
6	chr8:67525000-67527000	Active TSS	Right Ventricle	heart
7	chr8:67526200-67527000	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr8:67526200-67527000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:67526200-67527000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:67526200-67527000	Flanking Active TSS	Liver	Liver
11	chr8:67526200-67527000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:67526200-67527400	Flanking Active TSS	Dnd41	blood
13	chr8:67526400-67527000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:67526400-67527000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:67526400-67527000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:67526400-67527000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr8:67526400-67527000	Flanking Active TSS	Hela-S3	cervix
18	chr8:67526400-67527000	Flanking Active TSS	HMEC	breast
19	chr8:67526400-67558000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:67526600-67527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:67526600-67527000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:67526600-67527000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:67526600-67527000	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:67526600-67527000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:67526600-67527000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr8:67526600-67527000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:67526600-67527000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:67526600-67527000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:67526600-67527000	Enhancers	Fetal Muscle Trunk	muscle
30	chr8:67526600-67527000	Enhancers	Placenta	Placenta
31	chr8:67526600-67527000	Enhancers	Left Ventricle	heart
32	chr8:67526600-67527000	Enhancers	Lung	lung
33	chr8:67526600-67527000	Enhancers	Pancreas	Pancrea
34	chr8:67526600-67527000	Flanking Active TSS	Thymus	Thymus
35	chr8:67526600-67527000	Active TSS	HepG2	liver
36	chr8:67526600-67527000	Flanking Active TSS	K562	blood
37	chr8:67526600-67527400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:67526600-67527400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:67526600-67527800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:67526600-67528000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:67526800-67527000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:67526800-67527000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:67526800-67527000	Enhancers	Primary hematopoietic stem cells	blood
44	chr8:67526800-67527000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr8:67526800-67527000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:67526800-67527000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:67526800-67527000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:67526800-67527000	Enhancers	Adipose Nuclei	Adipose
49	chr8:67526800-67527000	Enhancers	Brain Angular Gyrus	brain
50	chr8:67526800-67527000	Enhancers	Brain Anterior Caudate	brain

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