Variant report

Variant	rs8191682
Chromosome Location	chr8:11645557-11645558
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	FOS	chr8:11645232-11646003	MCF10A-Er-Src	breast:	n/a	chr8:11645810-11645821
2	UBTF	chr8:11645368-11645566	K562	blood:	n/a	n/a
3	FOSL1	chr8:11645179-11645598	K562	blood:	n/a	n/a
4	ZC3H11A	chr8:11645394-11645639	K562	blood:	n/a	n/a
5	RAD21	chr8:11645349-11645565	K562	blood:	n/a	chr8:11645451-11645470
6	MAZ	chr8:11645315-11645709	K562	blood:	n/a	n/a
7	RAD21	chr8:11645278-11645651	HepG2	liver:	n/a	chr8:11645451-11645470
8	RAD21	chr8:11645183-11645793	HCT-116	colon:	n/a	chr8:11645451-11645470
9	JUND	chr8:11645215-11645565	HepG2	liver:	n/a	chr8:11645388-11645399
10	ZNF143	chr8:11645339-11645628	K562	blood:	n/a	n/a
11	CTCF	chr8:11645357-11645585	HepG2	liver:	n/a	chr8:11645452-11645473
12	FOXA1	chr8:11645277-11645591	T-47D	breast:	n/a	n/a
13	FOS	chr8:11645353-11646012	HUVEC	blood vessel:	n/a	chr8:11645810-11645821
14	CTCF	chr8:11645339-11645566	K562	blood:	n/a	chr8:11645452-11645473
15	JUN	chr8:11645276-11645603	K562	blood:	n/a	n/a
16	JUND	chr8:11645243-11645568	HepG2	liver:	n/a	chr8:11645388-11645399
17	CTCF	chr8:11645278-11645679	K562	blood:	n/a	chr8:11645452-11645473
18	FOXA1	chr8:11645193-11645687	HepG2	liver:	n/a	n/a
19	CTCF	chr8:11645263-11645593	K562	blood:	n/a	chr8:11645452-11645473
20	JUND	chr8:11645206-11645666	K562	blood:	n/a	chr8:11645388-11645399
21	CBX3	chr8:11645233-11645686	K562	blood:	n/a	chr8:11645432-11645443
22	MYC	chr8:11645469-11645873	MCF10A-Er-Src	breast:	n/a	n/a
23	JUND	chr8:11645317-11645580	H1-hESC	embryonic stem cell:	n/a	chr8:11645388-11645399
24	MYC	chr8:11645345-11645641	K562	blood:	n/a	n/a
25	CTCF	chr8:11645337-11645570	GM12878	blood:	n/a	chr8:11645452-11645473
26	POLR2A	chr8:11645413-11646018	U87	brain:	n/a	n/a
27	SMC3	chr8:11645414-11645600	Hela-S3	cervix:	n/a	chr8:11645452-11645466
28	SMC3	chr8:11645371-11645616	HepG2	liver:	n/a	chr8:11645452-11645466
29	FOS	chr8:11645258-11645913	MCF10A-Er-Src	breast:	n/a	chr8:11645810-11645821
30	CTCF	chr8:11645190-11645628	K562	blood:	n/a	chr8:11645452-11645473
31	YY1	chr8:11645296-11645558	K562	blood:	n/a	n/a
32	ARID3A	chr8:11645370-11645579	K562	blood:	n/a	n/a
33	MYC	chr8:11645333-11645926	MCF10A-Er-Src	breast:	n/a	n/a
34	CTCF	chr8:11645398-11645571	MCF-7	breast:	n/a	chr8:11645452-11645473
35	RAD21	chr8:11645275-11645616	MCF-7	breast:	n/a	chr8:11645451-11645470
36	RAD21	chr8:11645334-11645612	HepG2	liver:	n/a	chr8:11645451-11645470
37	POLR2A	chr8:11645344-11645654	K562	blood:	n/a	n/a
38	CTCF	chr8:11645399-11645600	T-47D	breast:	n/a	chr8:11645452-11645473
39	MAX	chr8:11645229-11645680	K562	blood:	n/a	n/a
40	CTCF	chr8:11645420-11645570	K562	blood:	n/a	chr8:11645452-11645473
41	RAD21	chr8:11645325-11645633	K562	blood:	n/a	chr8:11645451-11645470
42	E2F6	chr8:11645397-11645583	K562	blood:	n/a	n/a
43	POLR2A	chr8:11645423-11645827	MCF10A-Er-Src	breast:	n/a	n/a
44	RAD21	chr8:11645288-11645676	HepG2	liver:	n/a	chr8:11645451-11645470
45	BHLHE40	chr8:11645335-11645718	K562	blood:	n/a	n/a
46	MYC	chr8:11645321-11645632	K562	blood:	n/a	n/a
47	EP300	chr8:11645352-11645587	K562	blood:	n/a	n/a
48	FOSL2	chr8:11645159-11645617	HepG2	liver:	n/a	chr8:11645389-11645400
49	ZNF263	chr8:11645315-11645755	HEK293-T-REx	kidney:	n/a	n/a
50	MAX	chr8:11645325-11645645	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11637260..11639168-chr8:11645099..11647488,2	MCF-7	breast:
2	chr8:11641389..11643325-chr8:11643341..11646162,4	K562	blood:
3	chr8:11629053..11631703-chr8:11645453..11647397,2	K562	blood:
4	chr8:11644178..11646906-chr8:11648968..11651779,2	K562	blood:
5	chr8:11639903..11643106-chr8:11643341..11646162,3	K562	blood:
6	chr8:11645433..11648215-chr8:11658187..11661640,5	MCF-7	breast:
7	chr8:11644010..11646575-chr8:11710269..11712161,2	MCF-7	breast:

Variant related genes	Relation type
SUB1P1	TF binding region
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000154328	Chromatin interaction
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10088181	1.00[EUR][1000 genomes]
rs10091294	1.00[EUR][1000 genomes]
rs10094355	1.00[EUR][1000 genomes]
rs10094630	1.00[EUR][1000 genomes]
rs10096015	1.00[EUR][1000 genomes]
rs10096526	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10097076	1.00[EUR][1000 genomes]
rs10100742	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10101788	1.00[EUR][1000 genomes]
rs10101900	1.00[EUR][1000 genomes]
rs10102714	1.00[EUR][1000 genomes]
rs10103483	1.00[EUR][1000 genomes]
rs10105409	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10106250	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10108287	1.00[EUR][1000 genomes]
rs10109678	1.00[EUR][1000 genomes]
rs10109971	1.00[EUR][1000 genomes]
rs10111542	1.00[EUR][1000 genomes]
rs10112464	1.00[EUR][1000 genomes]
rs10113255	1.00[EUR][1000 genomes]
rs10216815	1.00[EUR][1000 genomes]
rs2127130	1.00[EUR][1000 genomes]
rs2127131	1.00[EUR][1000 genomes]
rs2252818	1.00[EUR][1000 genomes]
rs2252906	1.00[EUR][1000 genomes]
rs2252908	1.00[EUR][1000 genomes]
rs2252914	1.00[EUR][1000 genomes]
rs2264307	1.00[EUR][1000 genomes]
rs2409812	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28394863	1.00[EUR][1000 genomes]
rs28472428	1.00[EUR][1000 genomes]
rs28505660	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28665608	1.00[EUR][1000 genomes]
rs4841582	1.00[EUR][1000 genomes]
rs5027656	1.00[EUR][1000 genomes]
rs55951800	1.00[EUR][1000 genomes]
rs58467083	1.00[EUR][1000 genomes]
rs59035560	1.00[EUR][1000 genomes]
rs60419043	1.00[EUR][1000 genomes]
rs61265429	1.00[EUR][1000 genomes]
rs73545766	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73545784	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73663187	1.00[EUR][1000 genomes]
rs73663190	1.00[EUR][1000 genomes]
rs73663191	1.00[EUR][1000 genomes]
rs73663201	1.00[EUR][1000 genomes]
rs7831152	1.00[EUR][1000 genomes]
rs7841968	1.00[EUR][1000 genomes]
rs8191510	0.90[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8191543	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8191573	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8191664	1.00[TSI][hapmap]
rs8191669	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8191682	MEST	trans	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11628400-11647200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:11628400-11653000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:11628400-11656800	Weak transcription	Small Intestine	intestine
4	chr8:11628600-11647200	Weak transcription	Fetal Heart	heart
5	chr8:11628800-11646800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:11629600-11645800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr8:11636000-11645600	Weak transcription	Hela-S3	cervix
8	chr8:11636400-11645600	Strong transcription	Fetal Stomach	stomach
9	chr8:11636600-11645800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr8:11636800-11659400	Weak transcription	Thymus	Thymus
11	chr8:11637600-11645600	Strong transcription	Primary B cells from cord blood	blood
12	chr8:11640200-11645600	Strong transcription	Fetal Muscle Leg	muscle
13	chr8:11640400-11645600	Strong transcription	HSMMtube	muscle
14	chr8:11640600-11645800	Strong transcription	Fetal Intestine Small	intestine
15	chr8:11640800-11658600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:11641000-11658000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:11641000-11659600	Weak transcription	Right Atrium	heart
18	chr8:11641200-11658400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:11641200-11659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:11641400-11645600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:11641400-11645600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:11641400-11648600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:11641600-11653600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:11641800-11645600	Weak transcription	Psoas Muscle	Psoas
25	chr8:11641800-11653200	Weak transcription	Stomach Mucosa	stomach
26	chr8:11642000-11654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:11642200-11653000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:11642400-11646000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:11642600-11652800	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:11643000-11653000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:11643200-11646600	Weak transcription	Fetal Brain Male	brain
32	chr8:11643200-11647000	Weak transcription	Fetal Lung	lung
33	chr8:11643400-11645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:11643400-11653000	Weak transcription	Fetal Kidney	kidney
35	chr8:11643400-11653000	Weak transcription	HSMM	muscle
36	chr8:11643600-11658200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:11643800-11645600	Weak transcription	Esophagus	oesophagus
38	chr8:11643800-11646600	Weak transcription	Pancreas	Pancrea
39	chr8:11643800-11647000	Weak transcription	NHLF	lung
40	chr8:11643800-11647200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:11643800-11647200	Weak transcription	Left Ventricle	heart
42	chr8:11643800-11653000	Weak transcription	Fetal Intestine Large	intestine
43	chr8:11643800-11653800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:11643800-11654000	Weak transcription	GM12878-XiMat	blood
45	chr8:11643800-11654400	Weak transcription	Gastric	stomach
46	chr8:11643800-11659400	Weak transcription	Brain Angular Gyrus	brain
47	chr8:11643800-11659600	Weak transcription	Aorta	Aorta
48	chr8:11644000-11645600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:11644000-11646800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:11644000-11648400	Weak transcription	Adipose Nuclei	Adipose

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