Variant report

Variant	rs73662246
Chromosome Location	chr8:8820748-8820749
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	chr8:8637281..8637804-chr8:8820490..8821301,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERI1-5	chr8:8820728-8821298	NONHSAT124897

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56201757	1.00[AFR][1000 genomes]
rs58253424	0.83[AFR][1000 genomes]
rs60658953	1.00[AFR][1000 genomes]
rs73662245	1.00[AFR][1000 genomes]
rs73662248	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8808000-8820800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr8:8808600-8820800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:8811000-8836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:8816800-8820800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:8817800-8827600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:8818000-8820800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:8818600-8821000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:8819600-8820800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:8820000-8820800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:8820200-8821600	Enhancers	Stomach Mucosa	stomach
11	chr8:8820400-8820800	Bivalent Enhancer	Brain Germinal Matrix	brain
12	chr8:8820400-8820800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr8:8820600-8820800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:8820600-8820800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:8820600-8820800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr8:8820600-8820800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
17	chr8:8820600-8820800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:8820600-8820800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr8:8820600-8820800	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr8:8820600-8820800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:8820600-8820800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:8820600-8820800	Enhancers	Aorta	Aorta
23	chr8:8820600-8820800	Enhancers	Liver	Liver
24	chr8:8820600-8820800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:8820600-8820800	Enhancers	Brain Substantia Nigra	brain
26	chr8:8820600-8820800	Enhancers	Colonic Mucosa	Colon
27	chr8:8820600-8820800	Enhancers	Colon Smooth Muscle	Colon
28	chr8:8820600-8820800	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr8:8820600-8820800	Enhancers	Fetal Intestine Large	intestine
30	chr8:8820600-8820800	Enhancers	Fetal Kidney	kidney
31	chr8:8820600-8820800	Bivalent Enhancer	Fetal Stomach	stomach
32	chr8:8820600-8820800	Enhancers	Psoas Muscle	Psoas
33	chr8:8820600-8820800	Active TSS	Stomach Smooth Muscle	stomach
34	chr8:8820600-8820800	Enhancers	NHLF	lung
35	chr8:8820600-8821000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr8:8820600-8821000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:8820600-8821000	Active TSS	Fetal Lung	lung
38	chr8:8820600-8821000	Bivalent Enhancer	HSMMtube	muscle
39	chr8:8820600-8821000	Bivalent Enhancer	NH-A	brain
40	chr8:8820600-8821200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr8:8820600-8821200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:8820600-8821200	Active TSS	Rectal Smooth Muscle	rectum
43	chr8:8820600-8821400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:8820600-8821400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:8820600-8821400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:8820600-8821400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
50	chr8:8820600-8821400	Active TSS	Brain Inferior Temporal Lobe	brain

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