Variant report

Variant	rs11778006
Chromosome Location	chr8:20133144-20133145
allele	G/T
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	POU5F1	chr8:20132964-20133370	H1-hESC	embryonic stem cell:	n/a	chr8:20133218-20133232 chr8:20133217-20133231 chr8:20133217-20133231 chr8:20133217-20133231
2	SIN3A	chr8:20133095-20133381	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr8:20133090-20133191	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr8:20133092-20133292	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr8:20133132-20133283	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr8:20133115-20133267	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFK	chr8:20133127-20133285	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF143	chr8:20133101-20133333	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr8:20133078-20133261	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20130022..20131576-chr8:20131676..20133192,2	MCF-7	breast:

Variant related genes	Relation type
LZTS1-AS1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11204107	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11780242	1.00[YRI][hapmap]
rs11785891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11786006	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11786102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1476245	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1476246	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1586239	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2132703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2410635	0.85[CEU][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs729360	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs729361	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7834385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs904000	1.00[YRI][hapmap]
rs953074	0.89[AMR][1000 genomes];0.86[EUR][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20126600-20135200	Weak transcription	Right Ventricle	heart
2	chr8:20126600-20136200	Enhancers	Fetal Thymus	thymus
3	chr8:20126800-20135200	Weak transcription	Lung	lung
4	chr8:20126800-20135200	Weak transcription	Right Atrium	heart
5	chr8:20126800-20135400	Weak transcription	Left Ventricle	heart
6	chr8:20127600-20134400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:20129000-20133200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:20129600-20133400	Enhancers	Fetal Muscle Trunk	muscle
9	chr8:20129600-20135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:20129600-20137800	Weak transcription	Fetal Intestine Large	intestine
11	chr8:20129600-20139400	Weak transcription	NH-A	brain
12	chr8:20129800-20136400	Enhancers	NHDF-Ad	bronchial
13	chr8:20130400-20135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:20131000-20135000	Weak transcription	Fetal Brain Female	brain
15	chr8:20131000-20135200	Weak transcription	Spleen	Spleen
16	chr8:20131000-20135400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:20131000-20136600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:20131200-20133200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:20131200-20133200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:20131200-20134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:20131200-20135400	Enhancers	Fetal Muscle Leg	muscle
22	chr8:20131200-20137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:20131600-20136400	Enhancers	Primary T cells from cord blood	blood
24	chr8:20131800-20133200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:20131800-20133800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:20132000-20133200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:20132000-20133600	Genic enhancers	HSMMtube	muscle
28	chr8:20132000-20134600	Weak transcription	Fetal Lung	lung
29	chr8:20132000-20136000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:20132200-20133200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:20132200-20133600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:20132200-20133800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:20132200-20133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:20132200-20133800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:20132200-20134000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:20132200-20134200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:20132200-20134200	Weak transcription	Thymus	Thymus
38	chr8:20132200-20134400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:20132200-20135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:20132200-20135200	Weak transcription	Fetal Brain Male	brain
41	chr8:20132200-20138200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:20132400-20133200	Weak transcription	NHLF	lung
43	chr8:20132400-20133400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:20132400-20133800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:20132400-20134800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:20132400-20135000	Weak transcription	HSMM	muscle
47	chr8:20132600-20133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:20132800-20133600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:20132800-20133600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:20132800-20133800	Weak transcription	Primary T cells fromperipheralblood	blood

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