Variant report

Variant	rs11992140
Chromosome Location	chr8:124228644-124228645
allele	A/C
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	POLR2A	chr8:124228434-124228658	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:16839000..16840887-chr8:124227622..124230619,2	MCF-7	breast:
2	chr8:124220905..124226226-chr8:124228109..124231842,7	MCF-7	breast:
3	chr8:124194480..124197339-chr8:124228010..124229599,2	MCF-7	breast:

Variant related genes	Relation type
MIR4663	TF binding region
ENSG00000253258	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000206652	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11990795	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs16898165	0.80[AMR][1000 genomes]
rs55671742	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61094493	0.82[AFR][1000 genomes]
rs7017197	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 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	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
2	chr8:124212800-124231600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:124214200-124231400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:124215800-124229400	Weak transcription	K562	blood
5	chr8:124218000-124228800	Weak transcription	HMEC	breast
6	chr8:124218000-124229400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:124218000-124229400	Weak transcription	Gastric	stomach
8	chr8:124218000-124231600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:124219200-124229400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:124219200-124231200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:124219200-124231400	Weak transcription	Lung	lung
12	chr8:124219200-124245800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:124220000-124230200	Weak transcription	Esophagus	oesophagus
14	chr8:124220200-124252800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:124221400-124229800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:124222000-124231400	Weak transcription	Fetal Lung	lung
17	chr8:124222000-124237000	Weak transcription	HSMMtube	muscle
18	chr8:124223000-124228800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:124223200-124228800	Weak transcription	NHEK	skin
20	chr8:124223400-124231400	Weak transcription	Pancreas	Pancrea
21	chr8:124224000-124228800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:124224000-124229400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:124224000-124237600	Weak transcription	Ovary	ovary
24	chr8:124224600-124228800	Weak transcription	Thymus	Thymus
25	chr8:124224600-124229400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:124224600-124231000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:124224800-124230800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:124224800-124231400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:124225000-124231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:124225200-124229000	Weak transcription	HepG2	liver
31	chr8:124225200-124231400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:124225200-124236800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:124225200-124237600	Weak transcription	NHLF	lung
34	chr8:124225200-124239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:124225400-124236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:124225400-124237800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:124225800-124238200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:124226000-124228800	Weak transcription	Fetal Intestine Small	intestine
39	chr8:124226000-124229000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:124226000-124229400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:124226000-124229400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:124226200-124228800	Weak transcription	Fetal Stomach	stomach
43	chr8:124226200-124238200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:124226400-124229000	Weak transcription	Fetal Brain Female	brain
45	chr8:124226400-124229400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:124226600-124229200	Weak transcription	Placenta	Placenta
47	chr8:124226600-124229200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:124226600-124229400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:124226600-124237600	Weak transcription	Brain Angular Gyrus	brain
50	chr8:124226800-124229200	Weak transcription	Brain Anterior Caudate	brain

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