Variant report

Variant	rs11987993
Chromosome Location	chr8:66724605-66724606
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:66714054..66715575-chr8:66722177..66725111,2	K562	blood:
2	chr8:66723115..66725268-chr8:66749438..66751245,2	K562	blood:
3	chr8:66722101..66725454-chr8:66727046..66730688,4	K562	blood:
4	chr8:66723574..66725454-chr8:66727046..66729528,2	K562	blood:
5	chr8:66718426..66720371-chr8:66722752..66725233,2	K562	blood:
6	chr8:66723223..66730456-chr8:66752067..66756637,7	K562	blood:
7	chr8:66723330..66725162-chr8:66729359..66730995,2	MCF-7	breast:
8	chr8:66723223..66725888-chr8:66751567..66754370,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205268	Chromatin interaction
ENSG00000272192	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11774586	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs11776756	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11777019	0.87[EUR][1000 genomes]
rs11779350	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs11783534	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11784267	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1355830	0.83[EUR][1000 genomes]
rs2357474	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs55738339	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56295337	0.99[EUR][1000 genomes]
rs6982469	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6992865	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845030	0.81[EUR][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	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66713400-66738200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:66714800-66734400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:66716200-66738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:66717200-66730600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:66717400-66730600	Weak transcription	A549	lung
6	chr8:66718200-66731600	Weak transcription	Stomach Mucosa	stomach
7	chr8:66719000-66730800	Weak transcription	Ovary	ovary
8	chr8:66719200-66729400	Weak transcription	K562	blood
9	chr8:66719200-66730800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:66719200-66730800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:66719200-66734200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:66719400-66738600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:66719400-66750000	Weak transcription	Hela-S3	cervix
14	chr8:66720000-66734400	Weak transcription	NHLF	lung
15	chr8:66720000-66736800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:66720400-66725000	Weak transcription	Fetal Heart	heart
17	chr8:66720400-66730800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:66720400-66731200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:66720400-66734400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:66720400-66744800	Weak transcription	NHEK	skin
21	chr8:66720600-66732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:66721400-66728800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:66721400-66738000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:66721800-66729800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:66723000-66724800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr8:66723000-66725400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:66723400-66725000	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr8:66723400-66726400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:66723600-66729800	Weak transcription	Thymus	Thymus
30	chr8:66723800-66725000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:66723800-66725000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr8:66723800-66725000	Weak transcription	Dnd41	blood
33	chr8:66723800-66726800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:66723800-66728800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:66723800-66729000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:66723800-66729000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:66723800-66731000	Weak transcription	Left Ventricle	heart
38	chr8:66723800-66735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:66723800-66738200	Weak transcription	Pancreas	Pancrea
40	chr8:66724000-66725000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:66724000-66725200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:66724000-66726800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:66724000-66726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:66724000-66727200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:66724000-66728800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:66724000-66728800	Weak transcription	Primary T cells from cord blood	blood
47	chr8:66724000-66728800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:66724000-66728800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:66724000-66729000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:66724000-66730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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