Variant report

Variant	rs34510528
Chromosome Location	chr6:36830555-36830556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:36830030-36830713	K562	blood:	n/a	n/a
2	STAT5A	chr6:36829954-36830724	K562	blood:	n/a	n/a
3	GATA1	chr6:36829882-36830717	PBDE	blood:	n/a	n/a
4	TEAD4	chr6:36829883-36830746	K562	blood:	n/a	n/a
5	PML	chr6:36830004-36830766	K562	blood:	n/a	n/a
6	RCOR1	chr6:36829805-36830950	K562	blood:	n/a	n/a
7	ZNF143	chr6:36830059-36830971	K562	blood:	n/a	n/a
8	MAX	chr6:36829903-36831074	K562	blood:	n/a	chr6:36829945-36829955
9	TEAD4	chr6:36829971-36830610	K562	blood:	n/a	n/a
10	CEBPB	chr6:36830100-36830682	K562	blood:	n/a	n/a
11	MAFK	chr6:36829987-36830928	K562	blood:	n/a	n/a
12	POLR2A	chr6:36830094-36830716	K562	blood:	n/a	n/a
13	TBL1XR1	chr6:36830026-36830704	K562	blood:	n/a	n/a
14	POLR2A	chr6:36829958-36830635	K562	blood:	n/a	n/a
15	TBL1XR1	chr6:36829994-36830906	K562	blood:	n/a	n/a
16	MAFF	chr6:36829998-36831131	K562	blood:	n/a	n/a
17	NR2F2	chr6:36829775-36831005	K562	blood:	n/a	n/a
18	JUND	chr6:36829920-36830687	K562	blood:	n/a	n/a
19	TRIM28	chr6:36829901-36830592	K562	blood:	n/a	n/a
20	TRIM28	chr6:36829958-36830644	K562	blood:	n/a	n/a
21	GTF2B	chr6:36830114-36830763	K562	blood:	n/a	n/a
22	EP300	chr6:36829942-36830700	K562	blood:	n/a	n/a
23	STAT5A	chr6:36829937-36830578	K562	blood:	n/a	chr6:36829941-36829953
24	NR2F2	chr6:36829974-36830591	K562	blood:	n/a	n/a
25	RCOR1	chr6:36829876-36830935	K562	blood:	n/a	n/a
26	POLR2A	chr6:36830013-36831063	PBDE	blood:	n/a	n/a
27	CBX3	chr6:36829810-36830997	K562	blood:	n/a	n/a
28	KAP1	chr6:36830117-36830567	K562	blood:	n/a	n/a
29	BACH1	chr6:36830024-36830737	K562	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36830142..36832721-chr6:36892785..36895215,2	K562	blood:
2	chr6:36584813..36586612-chr6:36830505..36832911,2	K562	blood:
3	chr6:36649332..36651548-chr6:36829968..36831540,2	MCF-7	breast:
4	chr6:36749029..36752383-chr6:36830307..36832298,3	MCF-7	breast:
5	chr6:36828665..36833827-chr6:36838293..36844932,14	MCF-7	breast:
6	chr6:36821600..36824429-chr6:36828707..36831696,2	MCF-7	breast:
7	chr6:36787597..36789136-chr6:36828345..36830659,2	K562	blood:
8	chr6:36561665..36563216-chr6:36830142..36832208,2	MCF-7	breast:
9	chr6:36719279..36721596-chr6:36829791..36832062,2	MCF-7	breast:
10	chr6:36799434..36803274-chr6:36828928..36832166,3	MCF-7	breast:
11	chr6:36752311..36754452-chr6:36830186..36832199,2	K562	blood:
12	chr6:36645491..36648229-chr6:36828778..36831723,2	MCF-7	breast:
13	chr6:36827534..36831660-chr6:36847624..36850020,3	K562	blood:
14	chr6:36829835..36831683-chr6:36855504..36857194,2	K562	blood:
15	chr6:36824608..36827747-chr6:36828662..36831930,3	MCF-7	breast:
16	chr6:36749421..36751740-chr6:36828729..36831450,2	K562	blood:
17	chr6:36829409..36831916-chr6:36832480..36835667,3	MCF-7	breast:
18	chr6:36562362..36564787-chr6:36830127..36831778,2	K562	blood:
19	chr6:36830465..36834114-chr6:36840024..36843322,3	MCF-7	breast:

No data

Variant related genes	Relation type
PPIL1	TF binding region
ENSG00000137168	Chromatin interaction
ENSG00000124762	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000198663	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11542163	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751310	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751956	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753183	0.81[EUR][1000 genomes]
rs11753835	0.86[AMR][1000 genomes]
rs11757851	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11759158	0.81[EUR][1000 genomes]
rs11759163	0.81[EUR][1000 genomes]
rs12660916	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12660989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13191679	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192293	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200132	1.00[ASN][1000 genomes]
rs13205108	0.81[EUR][1000 genomes]
rs13205292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206310	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207209	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210299	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219913	0.82[EUR][1000 genomes]
rs17552005	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34405617	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34433592	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34597881	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34869908	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34913693	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35819257	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36098393	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71569352	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71569356	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470425	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470429	0.82[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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34510528	C6orf89	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36817000-36841400	Weak transcription	Colonic Mucosa	Colon
2	chr6:36817200-36833400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:36817200-36841200	Weak transcription	Fetal Brain Male	brain
4	chr6:36817200-36842000	Weak transcription	Stomach Mucosa	stomach
5	chr6:36819000-36840400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:36819400-36834000	Strong transcription	Dnd41	blood
7	chr6:36819400-36841800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:36819600-36833400	Strong transcription	Primary T cells from cord blood	blood
9	chr6:36819800-36839800	Strong transcription	Fetal Thymus	thymus
10	chr6:36821000-36841400	Weak transcription	Small Intestine	intestine
11	chr6:36821800-36830600	Weak transcription	NHDF-Ad	bronchial
12	chr6:36821800-36839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:36821800-36841400	Weak transcription	HSMMtube	muscle
14	chr6:36823600-36832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:36823600-36841400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:36823800-36831600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:36823800-36833600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:36824000-36831000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:36824200-36833800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:36824400-36832400	Weak transcription	HSMM	muscle
21	chr6:36824400-36836600	Weak transcription	Adipose Nuclei	Adipose
22	chr6:36824600-36830600	Weak transcription	Brain Substantia Nigra	brain
23	chr6:36824600-36831600	Weak transcription	Esophagus	oesophagus
24	chr6:36824600-36834000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:36824600-36838600	Weak transcription	Psoas Muscle	Psoas
26	chr6:36825000-36834000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:36825600-36830800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:36826200-36839800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:36826400-36833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:36826400-36841200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:36826800-36830800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:36826800-36840000	Strong transcription	Fetal Stomach	stomach
33	chr6:36826800-36841400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:36827000-36830600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:36827000-36831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:36827000-36831400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:36827000-36831400	Weak transcription	Pancreas	Pancrea
38	chr6:36827000-36834600	Weak transcription	Ovary	ovary
39	chr6:36827000-36841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:36827000-36841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:36827000-36841400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:36827400-36834600	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:36827600-36839400	Strong transcription	HepG2	liver
44	chr6:36827600-36840400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:36827800-36840600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:36828000-36832800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:36828000-36833000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr6:36828000-36838200	Strong transcription	Hela-S3	cervix
49	chr6:36828000-36838800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr6:36828000-36841400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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