Variant report

Variant	rs2686198
Chromosome Location	chr8:11662548-11662549
allele	C/T
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	USF1	chr8:11662387-11662667	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr8:11662416-11664436	HL-60	blood:	n/a	n/a
3	MYC	chr8:11662382-11662759	NB4	blood:	n/a	chr8:11662564-11662574
4	BHLHE40	chr8:11662425-11662689	HepG2	liver:	n/a	n/a
5	MAX	chr8:11662350-11662751	K562	blood:	n/a	chr8:11662564-11662574
6	BHLHE40	chr8:11662399-11662624	GM12878	blood:	n/a	n/a
7	ELF1	chr8:11662388-11662622	K562	blood:	n/a	chr8:11662534-11662547
8	POLR2A	chr8:11662472-11663443	HepG2	liver:	n/a	n/a
9	MXI1	chr8:11662443-11662635	K562	blood:	n/a	n/a
10	MAX	chr8:11662385-11662723	K562	blood:	n/a	chr8:11662564-11662574
11	E2F6	chr8:11662438-11662570	K562	blood:	n/a	n/a
12	UBTF	chr8:11662488-11662688	K562	blood:	n/a	n/a
13	TEAD4	chr8:11662335-11663439	K562	blood:	n/a	n/a
14	MAX	chr8:11662465-11662726	Hela-S3	cervix:	n/a	chr8:11662564-11662574
15	POLR2A	chr8:11662422-11662833	K562	blood:	n/a	n/a
16	MXI1	chr8:11662467-11662579	HepG2	liver:	n/a	n/a
17	FOS	chr8:11662400-11663001	MCF10A-Er-Src	breast:	n/a	chr8:11662483-11662494
18	FOS	chr8:11662319-11662966	HUVEC	blood vessel:	n/a	chr8:11662483-11662494
19	FOS	chr8:11662445-11663105	MCF10A-Er-Src	breast:	n/a	chr8:11662483-11662494
20	GATA3	chr8:11662520-11663255	SK-N-SH	brain:	n/a	n/a
21	MAX	chr8:11662357-11662743	NB4	blood:	n/a	chr8:11662564-11662574
22	ZNF384	chr8:11662264-11662718	K562	blood:	n/a	n/a
23	SIN3AK20	chr8:11662419-11662723	K562	blood:	n/a	n/a
24	ZNF263	chr8:11662354-11663415	HEK293-T-REx	kidney:	n/a	n/a
25	REST	chr8:11662393-11662579	K562	blood:	n/a	n/a
26	RCOR1	chr8:11662502-11662552	K562	blood:	n/a	n/a
27	MYC	chr8:11662437-11662606	HUVEC	blood vessel:	n/a	chr8:11662564-11662574
28	POLR2A	chr8:11662437-11662781	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr8:11662421-11662621	K562	blood:	n/a	chr8:11662564-11662574
30	MYC	chr8:11662450-11662692	MCF10A-Er-Src	breast:	n/a	chr8:11662564-11662574
31	POLR2A	chr8:11662441-11664361	GM12891	blood:	n/a	n/a
32	POLR2A	chr8:11662400-11664393	SK-N-MC	brain:	n/a	n/a
33	SIN3AK20	chr8:11662387-11662613	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr8:11662534-11662589	K562	blood:	n/a	n/a
35	BHLHE40	chr8:11662365-11662751	K562	blood:	n/a	n/a
36	USF1	chr8:11662411-11662640	K562	blood:	n/a	n/a
37	FOSL2	chr8:11662343-11662665	HepG2	liver:	n/a	n/a
38	POLR2A	chr8:11659475-11672720	K562	blood:	n/a	n/a
39	JUND	chr8:11662316-11662710	K562	blood:	n/a	n/a
40	POLR2A	chr8:11662085-11662689	K562	blood:	n/a	n/a
41	CCNT2	chr8:11662396-11662576	K562	blood:	n/a	n/a
42	JUN	chr8:11662385-11662585	K562	blood:	n/a	n/a
43	JUND	chr8:11662473-11662585	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUN	chr8:11662355-11662714	K562	blood:	n/a	n/a
45	HEY1	chr8:11662517-11663791	HepG2	liver:	n/a	n/a
46	MYC	chr8:11662389-11663136	K562	blood:	n/a	chr8:11662564-11662574
47	MYC	chr8:11662541-11663483	MCF10A-Er-Src	breast:	n/a	chr8:11662564-11662574
48	MYC	chr8:11662391-11662725	K562	blood:	n/a	chr8:11662564-11662574
49	MXI1	chr8:11662495-11662959	Hela-S3	cervix:	n/a	n/a
50	MXI1	chr8:11662436-11662922	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11657053..11659855-chr8:11661482..11664070,3	K562	blood:
2	chr8:11662199..11664746-chr8:11796348..11798802,2	K562	blood:
3	chr8:11652965..11656305-chr8:11661939..11664556,3	K562	blood:
4	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255046	TF binding region
FDFT1	TF binding region
ENSG00000154328	Chromatin interaction
ENSG00000079459	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1032575	0.85[ASN][1000 genomes]
rs1736062	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1736067	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17524895	0.86[ASN][1000 genomes]
rs2179010	0.86[ASN][1000 genomes]
rs2179011	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2645429	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2686197	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2740449	0.81[EUR][1000 genomes]
rs2740451	0.83[AMR][1000 genomes]
rs3824114	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2686198	CTSB	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11658400-11666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11659000-11663400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:11659200-11663200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:11659400-11662600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:11659400-11663800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:11659600-11662600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr8:11659600-11662600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:11659600-11663000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr8:11659600-11663200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:11659600-11663200	Active TSS	Fetal Brain Female	brain
11	chr8:11659600-11663400	Active TSS	Fetal Brain Male	brain
12	chr8:11659600-11663400	Active TSS	NHLF	lung
13	chr8:11659600-11663600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:11659600-11664200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:11659600-11664200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:11659800-11662600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:11659800-11662600	Active TSS	HSMMtube	muscle
18	chr8:11659800-11662600	Active TSS	K562	blood
19	chr8:11659800-11662800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:11659800-11663600	Active TSS	GM12878-XiMat	blood
21	chr8:11659800-11664200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:11660400-11663400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:11660400-11668200	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr8:11660800-11664400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:11660800-11665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:11660800-11666000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:11661000-11662800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:11661000-11663000	Flanking Active TSS	Fetal Thymus	thymus
29	chr8:11661000-11663000	Enhancers	Spleen	Spleen
30	chr8:11661000-11663600	Weak transcription	Pancreas	Pancrea
31	chr8:11661000-11667200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:11661200-11663600	Enhancers	Stomach Mucosa	stomach
33	chr8:11661200-11664400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:11661200-11665400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:11661200-11665400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr8:11661400-11664000	Enhancers	Adipose Nuclei	Adipose
37	chr8:11661400-11664200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
38	chr8:11661400-11664200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr8:11661400-11664800	Weak transcription	Right Ventricle	heart
40	chr8:11661400-11665400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:11661400-11665400	Weak transcription	Aorta	Aorta
42	chr8:11661600-11662600	Active TSS	Rectal Smooth Muscle	rectum
43	chr8:11661600-11662800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:11661600-11663000	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr8:11661600-11663800	Weak transcription	Fetal Heart	heart
46	chr8:11661600-11664200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:11661600-11664400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr8:11661600-11665200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr8:11661600-11665600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:11661800-11662600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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