Variant report

Variant	rs2570944
Chromosome Location	chr8:103873661-103873662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:103873462-103873682	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF384	chr8:103873622-103874381	K562	blood:	n/a	n/a
3	POLR2A	chr8:103873647-103878981	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:103873366-103877265	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
2	chr8:103842048..103844243-chr8:103871500..103874316,2	K562	blood:
3	chr8:103613879..103615577-chr8:103873601..103875436,2	MCF-7	breast:
4	chr8:103848297..103849915-chr8:103872924..103874718,2	K562	blood:
5	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
6	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
7	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:
8	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
9	chr8:103845726..103848177-chr8:103872999..103876884,3	K562	blood:
10	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
11	chr8:103421430..103426226-chr8:103872960..103876390,5	K562	blood:
12	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
AZIN1	TF binding region
ENSG00000155090	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000253263	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10104704	0.97[ASN][1000 genomes]
rs1055376	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10808382	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1434235	0.91[EUR][1000 genomes]
rs1714399	0.97[ASN][1000 genomes]
rs1806299	0.97[ASN][1000 genomes]
rs1961102	0.83[ASN][1000 genomes]
rs1991927	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2117313	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2164061	0.93[EUR][1000 genomes]
rs2256440	0.91[EUR][1000 genomes]
rs2304346	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2436844	0.89[EUR][1000 genomes]
rs2436846	0.92[EUR][1000 genomes]
rs2436847	0.87[EUR][1000 genomes]
rs2436848	0.92[EUR][1000 genomes]
rs2436857	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2436865	0.88[EUR][1000 genomes]
rs2513898	0.92[EUR][1000 genomes]
rs2513910	0.81[EUR][1000 genomes]
rs2513913	0.91[EUR][1000 genomes]
rs2513916	0.90[EUR][1000 genomes]
rs2513918	0.91[EUR][1000 genomes]
rs2513919	0.91[EUR][1000 genomes]
rs2513921	0.91[EUR][1000 genomes]
rs2513922	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2513935	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2570939	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2570940	0.91[ASN][1000 genomes]
rs2570942	0.92[EUR][1000 genomes]
rs2570946	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2570948	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2570949	0.85[ASN][1000 genomes]
rs2679741	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2679744	0.99[ASN][1000 genomes]
rs2679746	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679748	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679749	0.92[EUR][1000 genomes]
rs2679751	0.93[EUR][1000 genomes]
rs2679752	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2679754	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679755	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679756	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679757	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679758	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2679759	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2916558	0.86[ASN][1000 genomes]
rs2916560	0.99[ASN][1000 genomes]
rs2916564	0.88[EUR][1000 genomes]
rs3018956	0.91[EUR][1000 genomes]
rs34655485	0.91[EUR][1000 genomes]
rs491770	0.97[ASN][1000 genomes]
rs492770	0.97[ASN][1000 genomes]
rs522547	0.83[ASN][1000 genomes]
rs551241	0.97[ASN][1000 genomes]
rs599777	0.83[ASN][1000 genomes]
rs601588	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs606335	0.97[ASN][1000 genomes]
rs608236	0.84[ASN][1000 genomes]
rs613049	0.83[ASN][1000 genomes]
rs613559	0.83[ASN][1000 genomes]
rs644299	0.83[ASN][1000 genomes]
rs647313	0.97[ASN][1000 genomes]
rs657000	0.83[ASN][1000 genomes]
rs667927	0.97[ASN][1000 genomes]
rs6921	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs892484	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs892486	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs972142	0.91[EUR][1000 genomes]
rs974759	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	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
4	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
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2570944	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:103856000-103874200	Weak transcription	Brain Substantia Nigra	brain
3	chr8:103856200-103873800	Weak transcription	Fetal Brain Male	brain
4	chr8:103862400-103874800	Weak transcription	Aorta	Aorta
5	chr8:103862400-103874800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:103865800-103874600	Weak transcription	Colonic Mucosa	Colon
7	chr8:103866200-103874200	Weak transcription	HSMMtube	muscle
8	chr8:103866400-103874200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:103866400-103874200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:103866600-103874200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:103866600-103874200	Weak transcription	Right Ventricle	heart
12	chr8:103866600-103874400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:103866800-103874200	Weak transcription	Spleen	Spleen
14	chr8:103866800-103874800	Weak transcription	Lung	lung
15	chr8:103867600-103874200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:103867600-103874200	Weak transcription	Fetal Intestine Small	intestine
17	chr8:103867600-103874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:103867600-103874400	Weak transcription	Fetal Stomach	stomach
19	chr8:103869200-103874200	Weak transcription	Fetal Lung	lung
20	chr8:103869400-103874400	Weak transcription	Fetal Intestine Large	intestine
21	chr8:103869400-103874400	Weak transcription	Fetal Kidney	kidney
22	chr8:103870200-103874200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:103870200-103874400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:103870200-103874400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:103870400-103874200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:103870400-103874400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:103870400-103874600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:103870800-103874200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:103871000-103874400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:103871000-103874600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:103871200-103873800	Genic enhancers	NHEK	skin
32	chr8:103871200-103874200	Enhancers	HepG2	liver
33	chr8:103871200-103874400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:103871400-103873800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:103871400-103874600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr8:103871600-103874000	Enhancers	Brain Germinal Matrix	brain
37	chr8:103871600-103874600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr8:103871600-103874800	Weak transcription	Stomach Mucosa	stomach
39	chr8:103871800-103874200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:103871800-103874200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:103871800-103874400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr8:103872000-103874200	Weak transcription	Brain Angular Gyrus	brain
43	chr8:103872000-103874200	Weak transcription	Fetal Heart	heart
44	chr8:103872000-103874800	Weak transcription	Gastric	stomach
45	chr8:103872200-103873800	Weak transcription	HSMM	muscle
46	chr8:103872200-103874000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:103872200-103874000	Weak transcription	Psoas Muscle	Psoas
48	chr8:103872200-103874200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr8:103872200-103874200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:103872200-103874400	Weak transcription	Brain Hippocampus Middle	brain

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