Variant report

Variant	rs2679758
Chromosome Location	chr8:103871206-103871207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr8:103871062-103871769	SK-N-SH	brain:	n/a	n/a
2	FOSL2	chr8:103871095-103871752	A549	lung:	n/a	chr8:103871529-103871536 chr8:103871528-103871536
3	RCOR1	chr8:103871181-103871758	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:103871009-103871846	HepG2	liver:	n/a	n/a
5	JUN	chr8:103871184-103871769	Hela-S3	cervix:	n/a	chr8:103871529-103871536 chr8:103871528-103871536
6	GATA3	chr8:103870999-103871942	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr8:103871032-103871843	A549	lung:	n/a	n/a
8	USF2	chr8:103871186-103871598	Hela-S3	cervix:	n/a	chr8:103871368-103871379
9	SIN3AK20	chr8:103871016-103871919	MCF-7	breast:	n/a	n/a
10	PBX3	chr8:103871107-103871742	SK-N-SH	brain:	n/a	n/a
11	TBP	chr8:103871185-103871765	Hela-S3	cervix:	n/a	n/a
12	RFX5	chr8:103871126-103871697	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr8:103871079-103871378	A549	lung:	n/a	n/a
14	POLR2A	chr8:103870965-103872399	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr8:103871148-103871568	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr8:103870497-103871675	GM12878	blood:	n/a	n/a
17	GATA3	chr8:103871169-103871806	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr8:103871131-103871382	SK-N-SH	brain:	n/a	n/a
19	USF1	chr8:103871158-103871576	A549	lung:	n/a	n/a
20	GATA3	chr8:103871035-103871787	MCF-7	breast:	n/a	n/a
21	GATA3	chr8:103870938-103871875	MCF-7	breast:	n/a	n/a
22	GATA3	chr8:103871194-103871606	MCF-7	breast:	n/a	n/a
23	CTCF	chr8:103871160-103871310	BJ	skin:	n/a	n/a
24	FOSL2	chr8:103871165-103871796	SK-N-SH	brain:	n/a	chr8:103871529-103871536 chr8:103871528-103871536
25	CEBPB	chr8:103871135-103871836	Hela-S3	cervix:	n/a	n/a
26	JUND	chr8:103871080-103871725	Hela-S3	cervix:	n/a	chr8:103871529-103871536 chr8:103871528-103871536
27	EP300	chr8:103871013-103871830	Hela-S3	cervix:	n/a	n/a

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	chr2:149098190..149099193-chr8:103870990..103871561,3	MCF-7	breast:
4	chr8:103864301..103866801-chr8:103868843..103871762,3	MCF-7	breast:
5	chr8:103823248..103825038-chr8:103870591..103872347,2	K562	blood:

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

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10104704	0.96[ASN][1000 genomes]
rs1055376	0.81[AMR][1000 genomes]
rs10808382	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1434235	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1714399	0.96[ASN][1000 genomes]
rs1806299	0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1961102	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1991927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2117313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2164061	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs2256440	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2304346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2436844	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2436846	0.92[EUR][1000 genomes]
rs2436847	0.87[EUR][1000 genomes]
rs2436848	0.92[EUR][1000 genomes]
rs2436857	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];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	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs2513913	0.91[EUR][1000 genomes]
rs2513916	0.90[EUR][1000 genomes]
rs2513918	0.91[EUR][1000 genomes]
rs2513919	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2513921	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2513922	0.96[CEU][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2513935	0.96[CEU][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2570939	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2570940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2570942	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2570944	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2570946	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2570948	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2570949	0.84[ASN][1000 genomes]
rs2679741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2679744	0.98[ASN][1000 genomes]
rs2679746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2679748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2679749	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2679751	0.93[EUR][1000 genomes]
rs2679752	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2679754	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679755	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679756	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679757	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679759	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2916558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2916560	0.98[ASN][1000 genomes]
rs2916564	0.88[EUR][1000 genomes]
rs3018956	0.91[EUR][1000 genomes]
rs34655485	0.91[EUR][1000 genomes]
rs491770	0.96[ASN][1000 genomes]
rs492770	0.96[ASN][1000 genomes]
rs522547	0.82[ASN][1000 genomes]
rs551241	0.96[ASN][1000 genomes]
rs599777	0.96[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs601588	0.96[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs606335	0.95[ASN][1000 genomes]
rs608236	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs613049	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs613559	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs644299	0.96[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs647313	0.96[ASN][1000 genomes]
rs657000	0.82[ASN][1000 genomes]
rs667927	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6921	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833202	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs892484	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs892485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs892486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs972142	0.96[CEU][hapmap];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
rs2679758	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	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:103856000-103871600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:103856000-103872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:103856000-103874200	Weak transcription	Brain Substantia Nigra	brain
6	chr8:103856200-103873800	Weak transcription	Fetal Brain Male	brain
7	chr8:103857800-103871800	Weak transcription	Small Intestine	intestine
8	chr8:103858200-103871400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:103862400-103871600	Weak transcription	Brain Angular Gyrus	brain
10	chr8:103862400-103874800	Weak transcription	Aorta	Aorta
11	chr8:103862400-103874800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:103865600-103873000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:103865800-103874600	Weak transcription	Colonic Mucosa	Colon
14	chr8:103866200-103874200	Weak transcription	HSMMtube	muscle
15	chr8:103866400-103874200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:103866400-103874200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:103866600-103872800	Weak transcription	Fetal Brain Female	brain
18	chr8:103866600-103873600	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:103866600-103874200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:103866600-103874200	Weak transcription	Right Ventricle	heart
21	chr8:103866600-103874400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:103866800-103871800	Weak transcription	Esophagus	oesophagus
23	chr8:103866800-103873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:103866800-103874200	Weak transcription	Spleen	Spleen
25	chr8:103866800-103874800	Weak transcription	Lung	lung
26	chr8:103867000-103871800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr8:103867600-103871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:103867600-103871800	Weak transcription	Pancreas	Pancrea
29	chr8:103867600-103874200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:103867600-103874200	Weak transcription	Fetal Intestine Small	intestine
31	chr8:103867600-103874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:103867600-103874400	Weak transcription	Fetal Stomach	stomach
33	chr8:103867800-103872200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:103867800-103873200	Genic enhancers	A549	lung
35	chr8:103868000-103871800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:103868000-103873400	Weak transcription	Thymus	Thymus
37	chr8:103868600-103871800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:103869000-103873000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:103869200-103873400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:103869200-103874200	Weak transcription	Fetal Lung	lung
41	chr8:103869400-103871400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:103869400-103871600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:103869400-103871800	Weak transcription	Psoas Muscle	Psoas
44	chr8:103869400-103874400	Weak transcription	Fetal Intestine Large	intestine
45	chr8:103869400-103874400	Weak transcription	Fetal Kidney	kidney
46	chr8:103870000-103871600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
47	chr8:103870000-103871800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:103870000-103872200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr8:103870000-103872200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
50	chr8:103870200-103872200	Enhancers	Colon Smooth Muscle	Colon

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