Variant report

Variant	rs11562778
Chromosome Location	chr8:118942048-118942049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10505323	1.00[ASW][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10808490	1.00[AMR][1000 genomes]
rs11562674	1.00[ASW][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562740	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562825	1.00[AMR][1000 genomes]
rs17475813	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17504547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55712037	0.82[AFR][1000 genomes]
rs6989086	1.00[AMR][1000 genomes]
rs73322086	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118933200-118943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:118933200-118946600	Weak transcription	Gastric	stomach
3	chr8:118933600-118945600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:118933600-118945800	Weak transcription	Right Atrium	heart
5	chr8:118933600-118946200	Weak transcription	Ovary	ovary
6	chr8:118933600-118946600	Weak transcription	Brain Germinal Matrix	brain
7	chr8:118933800-118946000	Weak transcription	Fetal Intestine Large	intestine
8	chr8:118935200-118942400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:118935200-118946200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:118935200-118949800	Weak transcription	Psoas Muscle	Psoas
11	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
12	chr8:118936600-118942400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:118937800-118942200	Enhancers	Liver	Liver
14	chr8:118938000-118949800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:118938400-118942400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:118938800-118942200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:118938800-118942400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:118938800-118947600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:118939400-118946600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:118939600-118946200	Weak transcription	Fetal Heart	heart
21	chr8:118940000-118945800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:118940200-118943600	Weak transcription	Small Intestine	intestine
23	chr8:118940200-118946400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:118940400-118942200	Enhancers	HUVEC	blood vessel
25	chr8:118940400-118946000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:118940400-118946000	Weak transcription	Fetal Lung	lung
27	chr8:118940600-118943000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:118940600-118943400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:118940600-118944600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:118940600-118944800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:118940600-118944800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:118940600-118946000	Weak transcription	Right Ventricle	heart
33	chr8:118940600-118946200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:118940600-118946400	Weak transcription	Aorta	Aorta
35	chr8:118940600-118949400	Weak transcription	HSMM	muscle
36	chr8:118940800-118946600	Weak transcription	Osteobl	bone
37	chr8:118940800-118949600	Weak transcription	HepG2	liver
38	chr8:118941000-118947800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:118941200-118945600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:118941200-118946200	Weak transcription	NH-A	brain
41	chr8:118941200-118949200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:118941400-118942200	Enhancers	Spleen	Spleen
43	chr8:118941400-118945600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr8:118941400-118947600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:118941600-118942800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:118941600-118943800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:118941600-118944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:118941600-118946000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:118941800-118943000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:118941800-118943000	Weak transcription	NHEK	skin

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