Variant report

Variant	rs10139123
Chromosome Location	chr14:32675506-32675507
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	CREB1	chr14:32675087-32675655	GM12878	blood:	n/a	n/a
2	POU2F2	chr14:32675026-32675658	GM12878	blood:	n/a	n/a
3	RAD21	chr14:32675260-32675685	H1-hESC	embryonic stem cell:	n/a	chr14:32675431-32675450
4	SMC3	chr14:32675289-32675515	Hela-S3	cervix:	n/a	chr14:32675435-32675449
5	MTA3	chr14:32675087-32675650	GM12878	blood:	n/a	n/a
6	TCF3	chr14:32675263-32675532	GM12878	blood:	n/a	n/a
7	CTCF	chr14:32675400-32675550	GM12873	blood:	n/a	chr14:32675433-32675451
8	FOS	chr14:32675248-32675588	MCF10A-Er-Src	breast:	n/a	chr14:32675403-32675410 chr14:32675402-32675411 chr14:32675402-32675410 chr14:32675401-32675410
9	MAZ	chr14:32675016-32675565	GM12878	blood:	n/a	chr14:32675402-32675411 chr14:32675401-32675410
10	FOSL1	chr14:32675061-32675743	HCT-116	colon:	n/a	chr14:32675403-32675410 chr14:32675402-32675411 chr14:32675402-32675410 chr14:32675401-32675410
11	ATF2	chr14:32675131-32675651	GM12878	blood:	n/a	n/a
12	FOS	chr14:32675265-32675554	MCF10A-Er-Src	breast:	n/a	chr14:32675403-32675410 chr14:32675402-32675411 chr14:32675402-32675410 chr14:32675401-32675410
13	JUND	chr14:32675108-32675612	HCT-116	colon:	n/a	chr14:32675403-32675410 chr14:32675402-32675411 chr14:32675402-32675410 chr14:32675400-32675411 chr14:32675401-32675410
14	NFIC	chr14:32675121-32675678	GM12878	blood:	n/a	n/a
15	BCL11A	chr14:32675077-32675615	GM12878	blood:	n/a	chr14:32675402-32675411 chr14:32675401-32675410
16	SPI1	chr14:32674914-32675690	GM12878	blood:	n/a	chr14:32675348-32675361
17	CTCF	chr14:32675360-32675510	GM06990	blood:	n/a	chr14:32675433-32675451
18	FOSL1	chr14:32675163-32675623	HCT-116	colon:	n/a	chr14:32675403-32675410 chr14:32675402-32675411 chr14:32675402-32675410 chr14:32675401-32675410
19	FOSL2	chr14:32675261-32675654	MCF-7	breast:	n/a	chr14:32675403-32675410 chr14:32675402-32675411 chr14:32675402-32675410 chr14:32675401-32675410
20	SP1	chr14:32675137-32675594	GM12878	blood:	n/a	n/a
21	MAFK	chr14:32675329-32675512	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr14:32675146-32675585	GM12878	blood:	n/a	chr14:32675403-32675413 chr14:32675399-32675409
23	BCLAF1	chr14:32675074-32675555	GM12878	blood:	n/a	chr14:32675402-32675411 chr14:32675401-32675410
24	CTCF	chr14:32675380-32675530	NHEK	skin:	n/a	chr14:32675433-32675451
25	JUND	chr14:32675234-32675547	H1-hESC	embryonic stem cell:	n/a	chr14:32675403-32675410 chr14:32675402-32675411 chr14:32675402-32675410 chr14:32675400-32675411 chr14:32675401-32675410
26	CTCF	chr14:32675360-32675510	GM12864	blood:	n/a	chr14:32675433-32675451
27	STAT5A	chr14:32675134-32675638	GM12878	blood:	n/a	chr14:32675401-32675410 chr14:32675402-32675411 chr14:32675329-32675337
28	JUND	chr14:32675253-32675553	HepG2	liver:	n/a	chr14:32675403-32675410 chr14:32675402-32675411 chr14:32675402-32675410 chr14:32675400-32675411 chr14:32675401-32675410
29	PAX5	chr14:32674999-32675699	GM12878	blood:	n/a	chr14:32675318-32675327
30	CTCF	chr14:32675440-32675590	GM12868	blood:	n/a	n/a
31	RAD21	chr14:32675300-32675560	Hela-S3	cervix:	n/a	chr14:32675431-32675450
32	RAD21	chr14:32675291-32675593	H1-hESC	embryonic stem cell:	n/a	chr14:32675431-32675450
33	BCL11A	chr14:32675132-32675565	GM12878	blood:	n/a	chr14:32675402-32675411 chr14:32675401-32675410
34	CUX1	chr14:32675213-32675615	GM12878	blood:	n/a	n/a
35	EP300	chr14:32675107-32675669	GM12878	blood:	n/a	chr14:32675319-32675328 chr14:32675143-32675157 chr14:32675402-32675411 chr14:32675401-32675410 chr14:32675375-32675389
36	RELA	chr14:32675179-32675591	GM18951	blood:	n/a	n/a
37	CTCF	chr14:32675420-32675570	HepG2	liver:	n/a	chr14:32675433-32675451
38	POLR2A	chr14:32675284-32675519	HCT-116	colon:	n/a	n/a
39	TCF3	chr14:32675055-32675636	GM12878	blood:	n/a	n/a
40	SPI1	chr14:32675098-32675600	GM12891	blood:	n/a	chr14:32675348-32675361
41	FOS	chr14:32675224-32675567	MCF10A-Er-Src	breast:	n/a	chr14:32675403-32675410 chr14:32675402-32675411 chr14:32675402-32675410 chr14:32675401-32675410
42	SP1	chr14:32675083-32675655	GM12878	blood:	n/a	n/a
43	SPI1	chr14:32675113-32675604	GM12878	blood:	n/a	chr14:32675348-32675361
44	PAX5	chr14:32675228-32675546	GM12878	blood:	n/a	chr14:32675318-32675327
45	PAX5	chr14:32675238-32675557	GM12878	blood:	n/a	chr14:32675318-32675327
46	BCLAF1	chr14:32675104-32675562	GM12878	blood:	n/a	chr14:32675402-32675411 chr14:32675401-32675410
47	CTCF	chr14:32675400-32675550	SAEC	small airway:	n/a	chr14:32675433-32675451
48	CTCF	chr14:32675380-32675530	Caco-2	colon:	n/a	chr14:32675433-32675451
49	EP300	chr14:32675076-32675743	GM12878	blood:	n/a	chr14:32675319-32675328 chr14:32675143-32675157 chr14:32675402-32675411 chr14:32675401-32675410 chr14:32675375-32675389
50	RAD21	chr14:32675269-32675622	H1-hESC	embryonic stem cell:	n/a	chr14:32675431-32675450

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32674899..32676937-chr14:32680136..32682555,2	K562	blood:

Variant related genes	Relation type
RNU6-8	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10130218	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10136523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10137315	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138295	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10138397	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10140813	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10141044	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10141207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144755	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10872859	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11845870	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848180	0.91[ASN][1000 genomes]
rs12878800	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17098553	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17098598	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1958367	0.96[ASN][1000 genomes]
rs1958368	0.87[ASN][1000 genomes]
rs2149665	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002692	0.86[ASN][1000 genomes]
rs7160720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160938	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003494	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003504	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8005822	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005842	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006035	0.94[ASN][1000 genomes]
rs8006774	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011428	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013618	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013984	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8016252	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8017486	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017665	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8018778	0.92[ASN][1000 genomes]
rs8020915	0.96[ASN][1000 genomes]
rs8020976	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022007	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10139123	AKAP6	cis	cerebellum	SCAN
rs10139123	C14orf147	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32673600-32675600	Weak transcription	Brain Substantia Nigra	brain
2	chr14:32673600-32677400	Weak transcription	Small Intestine	intestine
3	chr14:32673600-32688200	Weak transcription	Left Ventricle	heart
4	chr14:32673600-32692800	Weak transcription	Psoas Muscle	Psoas
5	chr14:32673800-32679200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:32673800-32682000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:32673800-32682000	Weak transcription	NHEK	skin
8	chr14:32674200-32679400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:32674800-32675800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:32674800-32675800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:32674800-32676000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr14:32675000-32675800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:32675000-32675800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:32675000-32675800	Enhancers	Duodenum Mucosa	Duodenum
15	chr14:32675000-32675800	Bivalent Enhancer	HepG2	liver
16	chr14:32675000-32676000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:32675000-32676000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:32675200-32675600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:32675200-32675600	Enhancers	GM12878-XiMat	blood
20	chr14:32675200-32675800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr14:32675200-32675800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:32675200-32675800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr14:32675200-32676000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:32675200-32677200	Enhancers	Fetal Intestine Small	intestine
25	chr14:32675400-32675800	Enhancers	Fetal Thymus	thymus
26	chr14:32675400-32676000	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:32675400-32676200	Enhancers	Fetal Heart	heart
28	chr14:32675400-32677200	Enhancers	Fetal Intestine Large	intestine

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