Variant report

Variant	rs2916564
Chromosome Location	chr8:103823340-103823341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:103681131..103683313-chr8:103821848..103824380,2	MCF-7	breast:
2	chr8:103602171..103604876-chr8:103822543..103824319,2	K562	blood:
3	chr8:103596405..103599934-chr8:103821942..103825203,3	MCF-7	breast:
4	chr8:103665035..103666995-chr8:103822531..103823783,6	K562	blood:
5	chr8:103612475..103613967-chr8:103822902..103824162,4	MCF-7	breast:
6	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
7	chr14:73525108..73526850-chr8:103822146..103823789,2	MCF-7	breast:
8	chr8:103663750..103664726-chr8:103822777..103823778,9	MCF-7	breast:
9	chr8:103638288..103640009-chr8:103821096..103823943,2	MCF-7	breast:
10	chr8:103639335..103640286-chr8:103822929..103823765,4	MCF-7	breast:
11	chr8:103663361..103664632-chr8:103822267..103823755,10	MCF-7	breast:
12	chr8:103665446..103666548-chr8:103822796..103823768,4	MCF-7	breast:
13	chr8:103823248..103825038-chr8:103870591..103872347,2	K562	blood:
14	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
15	chr8:103742324..103745222-chr8:103822758..103824576,2	K562	blood:
16	chr8:103667025..103668992-chr8:103822765..103823586,9	MCF-7	breast:
17	chr8:103596964..103598565-chr8:103822349..103823714,7	MCF-7	breast:
18	chr8:103665794..103666765-chr8:103822627..103823731,3	MCF-7	breast:
19	chr8:103660043..103660805-chr8:103823098..103823789,2	MCF-7	breast:
20	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
21	chr8:103660131..103660939-chr8:103823181..103823689,2	MCF-7	breast:
22	chr8:103662408..103663028-chr8:103823124..103823655,2	MCF-7	breast:
23	chr8:103693070..103695216-chr8:103822636..103825245,2	K562	blood:
24	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
25	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
26	chr8:102504262..102506500-chr8:103822604..103825982,3	MCF-7	breast:
27	chr8:103643403..103646605-chr8:103821191..103823533,3	MCF-7	breast:
28	chr8:103801177..103801753-chr8:103822678..103823503,2	MCF-7	breast:
29	chr8:103597261..103598173-chr8:103822316..103823433,4	MCF-7	breast:
30	chr8:103732314..103735050-chr8:103822307..103824951,2	MCF-7	breast:
31	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
32	chr7:47751987..47752487-chr8:103822998..103823507,2	K562	blood:
33	chr8:103663739..103664942-chr8:103822777..103823773,7	K562	blood:
34	chr8:103507170..103509944-chr8:103823131..103824784,2	MCF-7	breast:
35	chr8:103249572..103251193-chr8:103822778..103825686,2	K562	blood:
36	chr8:103248364..103250740-chr8:103821721..103824052,2	MCF-7	breast:
37	chr8:103822430..103824657-chr8:104048690..104050803,2	MCF-7	breast:
38	chr8:103520610..103522494-chr8:103820924..103823364,2	MCF-7	breast:
39	chr8:103626178..103629397-chr8:103820874..103826100,7	MCF-7	breast:
40	chr8:103740987..103747065-chr8:103820578..103824576,6	K562	blood:
41	chr8:103665570..103666349-chr8:103822679..103823550,2	MCF-7	breast:
42	chr8:103601837..103604958-chr8:103822153..103824319,4	K562	blood:
43	chr8:103639519..103640281-chr8:103822930..103823782,4	MCF-7	breast:
44	chr8:103703111..103704923-chr8:103821705..103823868,2	K562	blood:
45	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
46	chr8:103823092..103825494-chr8:103875474..103877752,2	K562	blood:
47	chr8:103666345..103667557-chr8:103822272..103823530,3	MCF-7	breast:
48	chr8:103739412..103741779-chr8:103821663..103824081,2	MCF-7	breast:
49	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
50	chr8:103422161..103424073-chr8:103822681..103825599,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000258813	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000119707	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1055376	0.84[ASN][1000 genomes]
rs10808382	0.95[EUR][1000 genomes]
rs1138	0.87[EUR][1000 genomes]
rs1434235	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1991927	0.93[EUR][1000 genomes]
rs2117313	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2164061	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2256440	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304346	0.94[EUR][1000 genomes]
rs2436844	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2436846	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2436847	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2436848	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2436857	0.95[EUR][1000 genomes]
rs2436865	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2513898	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513910	0.86[EUR][1000 genomes]
rs2513913	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513916	0.92[EUR][1000 genomes]
rs2513918	0.93[EUR][1000 genomes]
rs2513919	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513921	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513922	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513935	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2570939	0.93[EUR][1000 genomes]
rs2570942	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2570944	0.88[EUR][1000 genomes]
rs2570947	0.84[ASN][1000 genomes]
rs2570950	0.84[ASN][1000 genomes]
rs2679742	0.84[ASN][1000 genomes]
rs2679746	0.93[EUR][1000 genomes]
rs2679748	0.93[EUR][1000 genomes]
rs2679749	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2679751	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2679752	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2679754	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2679755	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2679756	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2679757	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2679758	0.88[EUR][1000 genomes]
rs2916561	0.84[ASN][1000 genomes]
rs3018956	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34655485	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6921	0.94[EUR][1000 genomes]
rs892484	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs892486	0.86[EUR][1000 genomes]
rs972142	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs974759	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3402705	chr8:103821801-103824349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2916564	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103819800-103823400	Enhancers	Stomach Mucosa	stomach
2	chr8:103819800-103823800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:103821600-103826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:103822200-103823400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:103822200-103823800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:103822400-103823400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:103822400-103823400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:103822400-103823400	Active TSS	Brain Anterior Caudate	brain
9	chr8:103822400-103823400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr8:103822400-103823400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:103822400-103823600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr8:103822400-103823800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr8:103822400-103823800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:103822400-103824200	Flanking Active TSS	Dnd41	blood
15	chr8:103822600-103823400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:103822600-103823400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:103822600-103823400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:103822600-103823400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:103822600-103823400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:103822600-103823400	Active TSS	Brain Cingulate Gyrus	brain
21	chr8:103822600-103823400	Active TSS	Brain Germinal Matrix	brain
22	chr8:103822600-103823400	Active TSS	Brain Hippocampus Middle	brain
23	chr8:103822600-103823400	Active TSS	Duodenum Mucosa	Duodenum
24	chr8:103822600-103823400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr8:103822600-103823400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr8:103822600-103823400	Weak transcription	Fetal Brain Male	brain
27	chr8:103822600-103823400	Active TSS	Fetal Brain Female	brain
28	chr8:103822600-103823400	Active TSS	Fetal Intestine Large	intestine
29	chr8:103822600-103823400	Active TSS	Fetal Intestine Small	intestine
30	chr8:103822600-103823400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:103822600-103823400	Active TSS	Rectal Smooth Muscle	rectum
32	chr8:103822600-103823400	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr8:103822600-103823400	Active TSS	GM12878-XiMat	blood
34	chr8:103822600-103823400	Active TSS	Hela-S3	cervix
35	chr8:103822600-103823600	Active TSS	H1 Cell Line	embryonic stem cell
36	chr8:103822600-103823600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr8:103822600-103823600	Active TSS	A549	lung
38	chr8:103822600-103823800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:103822800-103823400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:103822800-103823400	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr8:103822800-103823400	Enhancers	Primary T cells from cord blood	blood
42	chr8:103822800-103823400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr8:103822800-103823400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:103822800-103823400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:103822800-103823400	Active TSS	Muscle Satellite Cultured Cells	--
46	chr8:103822800-103823400	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr8:103822800-103823400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:103822800-103823400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:103822800-103823400	Enhancers	Brain Angular Gyrus	brain
50	chr8:103822800-103823400	Active TSS	Fetal Lung	lung

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