Variant report

Variant	rs17775215
Chromosome Location	chr8:103810054-103810055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103807056..103813356-chr8:103813833..103821645,12	K562	blood:
2	chr8:103807910..103813469-chr8:103817363..103822857,7	K562	blood:
3	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
4	chr8:103656072..103671156-chr8:103783158..103810200,133	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6468841	0.94[CEU][hapmap];0.91[GIH][hapmap]
rs6990288	0.85[EUR][1000 genomes]
rs6991188	0.89[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[EUR][1000 genomes]
rs919949	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	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
rs17775215	AZIN1	cis	multi-tissue	Pritchard

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103799400-103811200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:103799600-103811000	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:103803800-103816400	Weak transcription	Small Intestine	intestine
4	chr8:103803800-103817000	Weak transcription	Aorta	Aorta
5	chr8:103805400-103811200	Enhancers	Fetal Intestine Small	intestine
6	chr8:103805800-103810800	Enhancers	Placenta	Placenta
7	chr8:103807600-103811800	Enhancers	HepG2	liver
8	chr8:103808000-103810200	Enhancers	GM12878-XiMat	blood
9	chr8:103808000-103810400	Weak transcription	Primary B cells from cord blood	blood
10	chr8:103808000-103810600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:103808000-103810800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:103808000-103811200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:103808000-103811600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:103808000-103816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:103808000-103816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:103808000-103816800	Weak transcription	Fetal Heart	heart
17	chr8:103808000-103817000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:103808000-103817200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:103808200-103810200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:103808200-103810400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr8:103808200-103811200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:103808200-103811600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:103808200-103816200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:103808600-103810800	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:103808800-103811400	Enhancers	Fetal Intestine Large	intestine
26	chr8:103809000-103810200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:103809000-103810200	Enhancers	Hela-S3	cervix
28	chr8:103809000-103810800	Enhancers	Fetal Muscle Leg	muscle
29	chr8:103809000-103812000	Enhancers	A549	lung
30	chr8:103809200-103810200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:103809200-103810200	Enhancers	Left Ventricle	heart
32	chr8:103809200-103810400	Enhancers	Liver	Liver
33	chr8:103809200-103810600	Enhancers	Right Atrium	heart
34	chr8:103809400-103816800	Weak transcription	Psoas Muscle	Psoas
35	chr8:103809600-103810200	Enhancers	Thymus	Thymus
36	chr8:103809600-103819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:103809800-103810200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:103809800-103810200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr8:103809800-103810200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:103809800-103810200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr8:103809800-103810200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr8:103809800-103810200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:103809800-103810200	Enhancers	Stomach Mucosa	stomach
44	chr8:103809800-103810200	Enhancers	K562	blood
45	chr8:103809800-103810200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr8:103809800-103810400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:103809800-103810400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr8:103809800-103810800	Enhancers	Pancreas	Pancrea
49	chr8:103809800-103811000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:103809800-103811200	Enhancers	Primary T cells from cord blood	blood

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