Variant report

Variant	rs11990273
Chromosome Location	chr8:123825195-123825196
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	chr8:123797238..123800114-chr8:123824670..123826658,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505426	1.00[EUR][1000 genomes]
rs16897554	1.00[EUR][1000 genomes]
rs16897576	1.00[EUR][1000 genomes]
rs1992669	1.00[EUR][1000 genomes]
rs60296517	1.00[EUR][1000 genomes]
rs6988421	1.00[EUR][1000 genomes]
rs6993388	1.00[EUR][1000 genomes]
rs7008874	1.00[EUR][1000 genomes]
rs73331728	1.00[EUR][1000 genomes]
rs73331733	1.00[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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:123800400-123846200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:123801200-123842200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:123801600-123829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:123801800-123829000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:123801800-123832400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:123802000-123826600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:123802400-123829000	Weak transcription	Fetal Lung	lung
8	chr8:123802400-123830400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:123803600-123832000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:123807800-123828000	Weak transcription	Aorta	Aorta
11	chr8:123807800-123830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:123809800-123834600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:123810200-123829000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:123810200-123829200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:123810600-123830200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:123811600-123826200	Weak transcription	HSMMtube	muscle
17	chr8:123811600-123829000	Weak transcription	NH-A	brain
18	chr8:123811600-123829200	Weak transcription	HSMM	muscle
19	chr8:123811600-123831800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:123812000-123829000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:123813200-123825800	Strong transcription	HepG2	liver
22	chr8:123813200-123836600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:123814200-123826200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:123814400-123826000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:123814400-123828800	Weak transcription	NHDF-Ad	bronchial
26	chr8:123817000-123830600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:123817200-123826200	Weak transcription	Adipose Nuclei	Adipose
28	chr8:123817600-123830400	Weak transcription	Fetal Brain Female	brain
29	chr8:123817800-123825800	Weak transcription	Brain Germinal Matrix	brain
30	chr8:123817800-123829200	Weak transcription	Gastric	stomach
31	chr8:123817800-123829800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:123817800-123830000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:123818200-123826200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:123818200-123826600	Strong transcription	Primary T cells from cord blood	blood
35	chr8:123818200-123840400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:123818400-123827400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:123818400-123844400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:123819000-123828400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:123819000-123829000	Weak transcription	Stomach Mucosa	stomach
40	chr8:123819000-123863400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:123819200-123839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:123819200-123840600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:123819400-123825600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:123819400-123825800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:123819400-123829000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:123819400-123829400	Weak transcription	Esophagus	oesophagus
47	chr8:123820200-123831600	Weak transcription	Fetal Kidney	kidney
48	chr8:123820800-123826800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:123821200-123827200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:123821400-123825200	Strong transcription	Fetal Stomach	stomach

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