Variant report

Variant	rs59168158
Chromosome Location	chr6:30431579-30431580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr6:30431245-30431788	HL-60	blood:	n/a	n/a
2	CTCF	chr6:30431480-30431630	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr6:30431520-30431670	HCPEpiC	choroid plexus:	n/a	chr6:30431623-30431636
4	EP300	chr6:30431467-30431610	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:30431171-30431876	HL-60	blood:	n/a	n/a
6	HMGN3	chr6:30431537-30431695	K562	blood:	n/a	n/a
7	CTCF	chr6:30431440-30431590	HAc	cerebellar:	n/a	n/a
8	CTCF	chr6:30431540-30431690	HUVEC	blood vessel:	n/a	chr6:30431623-30431636
9	CTCF	chr6:30431520-30431670	NB4	blood:	n/a	chr6:30431623-30431636
10	CTCF	chr6:30431520-30431670	GM12865	blood:	n/a	chr6:30431623-30431636
11	RUNX3	chr6:30431074-30431810	GM12878	blood:	n/a	chr6:30431511-30431520 chr6:30431511-30431526 chr6:30431511-30431520
12	CTCF	chr6:30431560-30431710	GM12873	blood:	n/a	chr6:30431623-30431636
13	ELF1	chr6:30431509-30432055	GM12878	blood:	n/a	n/a
14	GABPA	chr6:30431315-30431889	HL-60	blood:	n/a	n/a
15	CTCF	chr6:30431500-30431650	HMEC	breast:	n/a	chr6:30431623-30431636
16	SPI1	chr6:30431294-30431849	HL-60	blood:	n/a	n/a
17	CTCF	chr6:30431520-30431670	GM12871	blood:	n/a	chr6:30431623-30431636
18	CTCF	chr6:30431549-30431702	Spleen_OC	spleen:	n/a	chr6:30431623-30431636
19	RUNX3	chr6:30431045-30431736	GM12878	blood:	n/a	chr6:30431511-30431520 chr6:30431511-30431526 chr6:30431511-30431520
20	POLR2A	chr6:30431183-30431865	HL-60	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30431579-30431629	HEEpiC	esophagus:	n/a
2	chr6:30431563-30431613	HCF	heart:	n/a
3	chr6:30431563-30431613	ProgFib	skin:	n/a
4	chr6:30431577-30431627	Jurkat	blood:	n/a
5	chr6:30431579-30431629	Caco-2	colon:	n/a
6	chr6:30431579-30431629	PANC-1	pancreas:	n/a
7	chr6:30431577-30431627	HepG2	liver:	n/a
8	chr6:30431579-30431629	AG04450	lung:	fetal
9	chr6:30431563-30431613	Hepatocyte	liver:	n/a
10	chr6:30431577-30431627	NB4	blood:	n/a
11	chr6:30431563-30431613	H1-hESC	embryonic stem cell:	embryo
12	chr6:30431563-30431613	AoSMC	blood vessel:	n/a
13	chr6:30431579-30431629	GM12878	blood:	n/a
14	chr6:30431577-30431627	NT2-D1	testis:	n/a
15	chr6:30431579-30431629	HNPCEpiC	eye:	n/a
16	chr6:30431577-30431627	HL-60	blood:	n/a
17	chr6:30431577-30431627	HEK293	kidney:	embryo
18	chr6:30431577-30431627	HCPEpiC	choroid plexus:	n/a
19	chr6:30431563-30431613	HRE	kidney:	n/a
20	chr6:30431577-30431627	HNPCEpiC	eye:	n/a
21	chr6:30431563-30431613	GM06990	blood:	n/a
22	chr6:30431579-30431629	RPTEC	kidney:	n/a
23	chr6:30431579-30431629	AG04449	skin:	fetal
24	chr6:30431563-30431613	SK-N-SH	brain:	n/a
25	chr6:30431579-30431629	BE2_C	brain:	n/a
26	chr6:30431563-30431613	Caco-2	colon:	n/a
27	chr6:30431579-30431629	U87	brain:	n/a
28	chr6:30431563-30431613	HUVEC	blood vessel:	n/a
29	chr6:30431577-30431627	SK-N-SH	brain:	n/a
30	chr6:30431563-30431613	Jurkat	blood:	n/a
31	chr6:30431563-30431613	HRCEpiC	kidney:	n/a
32	chr6:30431577-30431627	HRPEpiC	eye:	n/a
33	chr6:30431577-30431627	MCF10A-Er-Src	breast:	n/a
34	chr6:30431563-30431613	SK-N-MC	brain:	n/a
35	chr6:30431577-30431627	NH-A	brain:	n/a
36	chr6:30431563-30431613	NHBE	bronchial:	n/a
37	chr6:30431563-30431613	LNCaP	prostate:	n/a
38	chr6:30431563-30431613	HepG2	liver:	n/a
39	chr6:30431563-30431613	AG10803	skin:	n/a
40	chr6:30431563-30431613	MCF10A-Er-Src	breast:	n/a
41	chr6:30431577-30431627	AoSMC	blood vessel:	n/a
42	chr6:30431577-30431627	NHDF-neo	bronchial:	n/a
43	chr6:30431579-30431629	SK-N-SH	brain:	n/a
44	chr6:30431579-30431629	NHDF-neo	bronchial:	n/a
45	chr6:30431579-30431629	Jurkat	blood:	n/a
46	chr6:30431577-30431627	RPTEC	kidney:	n/a
47	chr6:30431563-30431613	AG09319	gingival:	n/a
48	chr6:30431579-30431629	MCF10A-Er-Src	breast:	n/a
49	chr6:30431563-30431613	GM19239	blood:	n/a
50	chr6:30431563-30431613	T-47D	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30418502..30422305-chr6:30429667..30432220,3	MCF-7	breast:
2	chr6:30430770..30433095-chr6:30579406..30582231,2	K562	blood:
3	chr6:30431267..30434167-chr6:30612886..30615610,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMPOP1	TF binding region
TMPOP1	CpG island
ENSG00000204564	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2077571	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2078676	0.83[AMR][1000 genomes]
rs4959049	0.84[EUR][1000 genomes]
rs4959051	0.89[EUR][1000 genomes]
rs57613365	1.00[AFR][1000 genomes]
rs58101292	0.89[EUR][1000 genomes]
rs58253471	0.92[AFR][1000 genomes]
rs58314420	0.89[EUR][1000 genomes]
rs58504477	0.89[EUR][1000 genomes]
rs59734425	1.00[AFR][1000 genomes]
rs59865400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60118758	0.89[EUR][1000 genomes]
rs60162146	0.89[EUR][1000 genomes]
rs61152365	0.89[EUR][1000 genomes]
rs73421278	0.92[AFR][1000 genomes]
rs73429069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3336846	chr6:30420111-30432946	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
7	nsv884065	chr6:30430520-30446055	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv884066	chr6:30430875-30440732	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv884067	chr6:30430875-30446055	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv884068	chr6:30430875-30447987	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv884069	chr6:30430875-30451474	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
12	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30429800-30434200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:30430600-30431600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr6:30430800-30431600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr6:30430800-30432400	Bivalent Enhancer	Fetal Thymus	thymus
5	chr6:30431000-30431600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:30431000-30431600	Bivalent Enhancer	Right Ventricle	heart
7	chr6:30431000-30432000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
8	chr6:30431000-30432000	Bivalent Enhancer	Dnd41	blood
9	chr6:30431000-30432000	Bivalent Enhancer	GM12878-XiMat	blood
10	chr6:30431000-30432000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr6:30431000-30432200	Enhancers	Gastric	stomach
12	chr6:30431000-30432400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
13	chr6:30431000-30432400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr6:30431000-30432400	Bivalent Enhancer	Colon Smooth Muscle	Colon
15	chr6:30431000-30432400	Enhancers	Pancreas	Pancrea
16	chr6:30431000-30432400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr6:30431000-30432600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr6:30431000-30432600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:30431000-30432600	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr6:30431200-30431600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:30431200-30431600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
22	chr6:30431200-30431600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:30431200-30431600	Enhancers	Lung	lung
24	chr6:30431200-30431600	Bivalent Enhancer	HSMM	muscle
25	chr6:30431200-30431800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:30431200-30431800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
27	chr6:30431200-30431800	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr6:30431200-30432000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr6:30431200-30432000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:30431200-30432000	Bivalent Enhancer	Brain Anterior Caudate	brain
31	chr6:30431200-30432200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr6:30431200-30432200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr6:30431200-30432200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
34	chr6:30431200-30432400	Bivalent Enhancer	Fetal Heart	heart
35	chr6:30431200-30432600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:30431400-30431600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:30431400-30431600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:30431400-30431600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:30431400-30431600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:30431400-30431600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:30431400-30431600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:30431400-30431600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr6:30431400-30431600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
44	chr6:30431400-30431600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
45	chr6:30431400-30431600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
46	chr6:30431400-30431600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
47	chr6:30431400-30431600	Bivalent Enhancer	HUVEC	blood vessel
48	chr6:30431400-30431600	Bivalent Enhancer	K562	blood
49	chr6:30431400-30431600	Bivalent Enhancer	NHDF-Ad	bronchial
50	chr6:30431400-30431600	Flanking Bivalent TSS/Enh	NHEK	skin

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