Variant report

Variant	rs2679757
Chromosome Location	chr8:103870818-103870819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:103870497-103871675	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:101734143..101735736-chr8:103870280..103872376,2	K562	blood:
2	chr8:103870045..103872985-chr8:104031865..104034556,2	MCF-7	breast:
3	chr8:103864301..103866801-chr8:103868843..103871762,3	MCF-7	breast:
4	chr8:103823248..103825038-chr8:103870591..103872347,2	K562	blood:
5	chr8:103847188..103849058-chr8:103867728..103870854,3	K562	blood:

No data

Variant related genes	Relation type
AZIN1	TF binding region
ENSG00000070756	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000253385	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000155097	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1055376	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10808382	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs1138	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1434235	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1991927	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs2117313	0.91[EUR][1000 genomes]
rs2164061	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2256440	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2304346	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs2436844	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2436846	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436847	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2436848	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2436857	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs2436865	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2513898	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513910	0.85[CEU][hapmap]
rs2513913	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513916	0.88[EUR][1000 genomes]
rs2513918	0.89[EUR][1000 genomes]
rs2513919	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513921	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513922	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513935	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2570939	0.92[EUR][1000 genomes]
rs2570942	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2570944	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2570947	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2570950	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2679742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2679746	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs2679748	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs2679749	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679751	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679752	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679754	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679755	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679756	0.96[CEU][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs2679758	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28594922	0.91[ASN][1000 genomes]
rs2916561	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2916564	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3018956	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34655485	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs548488	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs567395	0.94[ASN][1000 genomes]
rs581610	0.91[YRI][hapmap]
rs601088	0.91[YRI][hapmap]
rs665298	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs678839	0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6921	0.91[EUR][1000 genomes]
rs892484	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892485	0.93[CEU][hapmap]
rs892486	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs972142	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]
rs974759	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][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
rs2679757	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	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:103834600-103871200	Strong transcription	K562	blood
3	chr8:103835000-103871000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:103835800-103871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:103836000-103871000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:103856000-103871600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:103856000-103872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:103856000-103874200	Weak transcription	Brain Substantia Nigra	brain
11	chr8:103856200-103873800	Weak transcription	Fetal Brain Male	brain
12	chr8:103857800-103871800	Weak transcription	Small Intestine	intestine
13	chr8:103858200-103871400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:103859200-103871200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:103859800-103871000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:103862400-103871000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:103862400-103871200	Weak transcription	Right Atrium	heart
18	chr8:103862400-103871600	Weak transcription	Brain Angular Gyrus	brain
19	chr8:103862400-103874800	Weak transcription	Aorta	Aorta
20	chr8:103862400-103874800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:103865600-103873000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:103865800-103874600	Weak transcription	Colonic Mucosa	Colon
23	chr8:103866200-103871200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:103866200-103874200	Weak transcription	HSMMtube	muscle
25	chr8:103866400-103874200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:103866400-103874200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:103866600-103872800	Weak transcription	Fetal Brain Female	brain
28	chr8:103866600-103873600	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:103866600-103874200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:103866600-103874200	Weak transcription	Right Ventricle	heart
31	chr8:103866600-103874400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:103866800-103871200	Weak transcription	Ovary	ovary
33	chr8:103866800-103871800	Weak transcription	Esophagus	oesophagus
34	chr8:103866800-103873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:103866800-103874200	Weak transcription	Spleen	Spleen
36	chr8:103866800-103874800	Weak transcription	Lung	lung
37	chr8:103867000-103871000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:103867000-103871200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:103867000-103871800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr8:103867600-103871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:103867600-103871800	Weak transcription	Pancreas	Pancrea
42	chr8:103867600-103874200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:103867600-103874200	Weak transcription	Fetal Intestine Small	intestine
44	chr8:103867600-103874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:103867600-103874400	Weak transcription	Fetal Stomach	stomach
46	chr8:103867800-103872200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr8:103867800-103873200	Genic enhancers	A549	lung
48	chr8:103868000-103871800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:103868000-103873400	Weak transcription	Thymus	Thymus
50	chr8:103868600-103871800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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