Variant report

Variant	rs11993347
Chromosome Location	chr8:103919090-103919091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103905020..103906707-chr8:103917202..103920098,2	MCF-7	breast:
2	chr8:103914488..103917104-chr8:103917551..103922052,4	K562	blood:
3	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
4	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10104995	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955294	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11776547	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1806300	0.90[AFR][1000 genomes]
rs2458280	0.91[EUR][1000 genomes]
rs2513875	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2570947	0.82[AFR][1000 genomes]
rs2570949	0.96[EUR][1000 genomes]
rs2570950	0.82[AFR][1000 genomes]
rs2916561	0.82[AFR][1000 genomes]
rs35656046	0.90[AFR][1000 genomes]
rs548488	0.80[EUR][1000 genomes]
rs581610	0.87[AFR][1000 genomes]
rs601088	0.90[AFR][1000 genomes]
rs642004	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs665298	0.80[EUR][1000 genomes]
rs678839	0.80[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11993347	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
4	chr8:103907800-103922600	Weak transcription	Gastric	stomach
5	chr8:103910800-103921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:103911000-103922000	Weak transcription	Aorta	Aorta
7	chr8:103911400-103922000	Weak transcription	Adipose Nuclei	Adipose
8	chr8:103911400-103922000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:103911400-103922200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:103911400-103922200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:103911600-103921400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:103911800-103921400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:103911800-103922600	Weak transcription	Left Ventricle	heart
14	chr8:103911800-103922600	Weak transcription	Lung	lung
15	chr8:103912400-103922600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:103913400-103922000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:103913400-103929800	Weak transcription	Psoas Muscle	Psoas
18	chr8:103913600-103922600	Weak transcription	Spleen	Spleen
19	chr8:103914400-103920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:103915000-103920000	Enhancers	Placenta	Placenta
21	chr8:103915600-103921400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:103915800-103922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:103915800-103922000	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:103915800-103922400	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:103915800-103922600	Weak transcription	Right Atrium	heart
26	chr8:103916000-103919400	Weak transcription	Primary T cells from cord blood	blood
27	chr8:103916000-103921200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:103916000-103922000	Weak transcription	Fetal Lung	lung
29	chr8:103916000-103922000	Weak transcription	Ovary	ovary
30	chr8:103916000-103922800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:103916200-103922000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:103916400-103922200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:103917400-103919800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:103917400-103920200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:103917400-103922200	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:103917400-103922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:103917400-103925800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:103917600-103921200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:103917600-103922200	Weak transcription	Fetal Stomach	stomach
40	chr8:103918200-103919200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:103918200-103919200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:103918200-103919200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:103918200-103919200	Enhancers	HMEC	breast
44	chr8:103918200-103919400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:103918200-103919400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr8:103918200-103919400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:103918200-103919400	Enhancers	HUVEC	blood vessel
48	chr8:103918200-103919400	Enhancers	NHEK	skin
49	chr8:103918200-103919600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:103918200-103920600	Enhancers	HUES64 Cell Line	embryonic stem cell

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