Variant report

Variant	rs972142
Chromosome Location	chr8:103836253-103836254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103835276..103837676-chr8:103841213..103843239,2	MCF-7	breast:
2	chr8:103835780..103838077-chr8:103842797..103845135,3	MCF-7	breast:
3	chr8:103835913..103837601-chr8:103875219..103876798,2	K562	blood:
4	chr8:103833754..103836744-chr8:103873925..103877111,3	MCF-7	breast:
5	chr8:103829196..103831559-chr8:103833622..103836571,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1055376	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10808382	0.96[CEU][hapmap];0.98[EUR][1000 genomes]
rs10955294	0.83[CHB][hapmap]
rs1138	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs1434235	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991927	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs2117313	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2164061	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2256440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304346	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2436844	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2436846	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436847	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2436848	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2436857	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs2436865	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2513898	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513910	0.88[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs2513913	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513916	0.95[EUR][1000 genomes]
rs2513918	0.95[EUR][1000 genomes]
rs2513919	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570939	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2570942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2570944	0.91[EUR][1000 genomes]
rs2570947	0.85[ASN][1000 genomes]
rs2570950	0.85[ASN][1000 genomes]
rs2679742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2679746	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2679748	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2679749	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679751	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679754	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2679755	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679757	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679758	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2916561	0.85[ASN][1000 genomes]
rs2916564	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018956	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34655485	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548488	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs565720	0.84[CHD][hapmap]
rs567395	0.81[ASN][1000 genomes]
rs581610	0.91[YRI][hapmap]
rs601088	0.91[YRI][hapmap]
rs665298	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs678839	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs6921	0.97[EUR][1000 genomes]
rs892484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs892485	0.96[CEU][hapmap]
rs892486	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs974759	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs972142	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103822800-103837400	Weak transcription	Gastric	stomach
2	chr8:103823000-103837200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:103823000-103839600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:103823000-103841400	Weak transcription	Pancreas	Pancrea
5	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
6	chr8:103823200-103841800	Weak transcription	Aorta	Aorta
7	chr8:103823200-103844000	Weak transcription	Right Ventricle	heart
8	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
9	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
10	chr8:103823600-103837400	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:103823600-103838800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:103823600-103839800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:103823600-103840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr8:103823800-103837600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:103823800-103837800	Weak transcription	NHDF-Ad	bronchial
16	chr8:103824200-103836600	Weak transcription	Fetal Intestine Large	intestine
17	chr8:103825600-103837600	Weak transcription	Dnd41	blood
18	chr8:103825600-103841600	Weak transcription	Lung	lung
19	chr8:103825800-103837200	Weak transcription	Spleen	Spleen
20	chr8:103825800-103840200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:103826200-103839200	Weak transcription	HUVEC	blood vessel
22	chr8:103826800-103837400	Weak transcription	Colonic Mucosa	Colon
23	chr8:103826800-103837600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:103826800-103841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:103827000-103838000	Weak transcription	Hela-S3	cervix
27	chr8:103827000-103838800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:103827000-103839200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:103827000-103840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:103827200-103836400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:103827200-103836600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:103827200-103836600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:103827200-103836600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:103827200-103836600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:103827200-103836800	Weak transcription	Thymus	Thymus
36	chr8:103827200-103837000	Weak transcription	Brain Anterior Caudate	brain
37	chr8:103827200-103837000	Weak transcription	Fetal Stomach	stomach
38	chr8:103827200-103837200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:103827200-103837200	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:103827200-103837200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:103827200-103837400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:103827200-103837600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:103827200-103837600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:103827200-103837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:103827200-103837800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:103827200-103837800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:103827200-103839000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:103827200-103839200	Weak transcription	Fetal Lung	lung
49	chr8:103827200-103839400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:103827200-103839800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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