Variant report

Variant	rs58581731
Chromosome Location	chr6:27560023-27560024
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
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	BHLHE40	chr6:27560016-27560994	K562	blood:	n/a	n/a
2	POLR2A	chr6:27559682-27561420	H1-neurons	neurons:	n/a	n/a
3	SIN3A	chr6:27559517-27561282	H1-hESC	embryonic stem cell:	n/a	chr6:27561096-27561109
4	RAD21	chr6:27559990-27560182	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr6:27559169-27561107	A549	lung:	n/a	n/a
6	TBL1XR1	chr6:27559329-27560883	K562	blood:	n/a	n/a
7	CTCF	chr6:27559900-27560050	HBMEC	blood vessel:	n/a	n/a
8	TEAD4	chr6:27559243-27561438	K562	blood:	n/a	n/a
9	UBTF	chr6:27559528-27560776	K562	blood:	n/a	n/a
10	KAP1	chr6:27559407-27561228	HEK293	kidney:	n/a	n/a
11	STAT3	chr6:27559653-27560631	MCF10A-Er-Src	breast:	n/a	chr6:27560187-27560196 chr6:27560188-27560197 chr6:27560186-27560197 chr6:27560188-27560211 chr6:27560185-27560199
12	POLR2A	chr6:27559692-27561541	H1-neurons	neurons:	n/a	n/a
13	ATF3	chr6:27559238-27561015	K562	blood:	n/a	n/a
14	CBX3	chr6:27559260-27561263	K562	blood:	n/a	n/a
15	GTF3C2	chr6:27559393-27560882	K562	blood:	n/a	n/a
16	STAT3	chr6:27559974-27560695	MCF10A-Er-Src	breast:	n/a	chr6:27560187-27560196 chr6:27560188-27560197 chr6:27560186-27560197 chr6:27560188-27560211 chr6:27560185-27560199
17	STAT5A	chr6:27559319-27561236	K562	blood:	n/a	chr6:27560187-27560196 chr6:27560188-27560197 chr6:27560188-27560211 chr6:27560185-27560199
18	CUX1	chr6:27559358-27560936	K562	blood:	n/a	n/a
19	NR2F2	chr6:27559050-27561106	K562	blood:	n/a	chr6:27559263-27559278
20	STAT3	chr6:27559585-27560741	MCF10A-Er-Src	breast:	n/a	chr6:27560187-27560196 chr6:27560188-27560197 chr6:27560186-27560197 chr6:27560188-27560211 chr6:27560185-27560199
21	RCOR1	chr6:27559350-27560063	K562	blood:	n/a	n/a
22	BDP1	chr6:27559507-27560066	K562	blood:	n/a	n/a
23	MTA3	chr6:27559999-27561204	GM12878	blood:	n/a	n/a
24	MYC	chr6:27559997-27560145	NB4	blood:	n/a	n/a
25	KAP1	chr6:27559485-27561067	U2OS	brain:	n/a	n/a
26	SREBP2	chr6:27559251-27561607	GM12878	blood:	n/a	n/a
27	UBTF	chr6:27559500-27560871	K562	blood:	n/a	n/a
28	MYBL2	chr6:27559317-27560976	HepG2	liver:	n/a	n/a
29	CTCF	chr6:27559940-27560090	BE2_C	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27559994-27560044	LNCaP	prostate:	n/a
2	chr6:27559994-27560044	T-47D	breast:	n/a
3	chr6:27559994-27560044	Hepatocyte	liver:	n/a
4	chr6:27559994-27560044	Hela-S3	cervix:	n/a
5	chr6:27559994-27560044	HNPCEpiC	eye:	n/a
6	chr6:27559994-27560044	NB4	blood:	n/a
7	chr6:27559994-27560044	HepG2	liver:	n/a
8	chr6:27559994-27560044	IMR90	lung:	fetal
9	chr6:27559994-27560044	H1-hESC	embryonic stem cell:	embryo
10	chr6:27559994-27560044	HCM	heart:	n/a
11	chr6:27559994-27560044	HIPEpiC	eye:	n/a
12	chr6:27559994-27560044	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:27559994-27560044	GM06990	blood:	n/a
14	chr6:27559994-27560044	AG09309	skin:	n/a
15	chr6:27559994-27560044	HCT-116	colon:	n/a
16	chr6:27559994-27560044	HEK293	kidney:	embryo
17	chr6:27559994-27560044	GM12892	blood:	n/a
18	chr6:27559994-27560044	HRE	kidney:	n/a
19	chr6:27559994-27560044	BE2_C	brain:	n/a
20	chr6:27559994-27560044	HAEpiC	amniotic membrane:	n/a
21	chr6:27559994-27560044	AG10803	skin:	n/a
22	chr6:27559994-27560044	HCF	heart:	n/a
23	chr6:27559994-27560044	SKMC	muscle:	n/a
24	chr6:27559994-27560044	HL-60	blood:	n/a
25	chr6:27559994-27560044	AG09319	gingival:	n/a
26	chr6:27559994-27560044	MCF-7	breast:	n/a
27	chr6:27559994-27560044	SK-N-SH_RA	brain:	n/a
28	chr6:27559994-27560044	SAEC	small airway:	n/a
29	chr6:27559994-27560044	Jurkat	blood:	n/a
30	chr6:27559994-27560044	K562	blood:	n/a
31	chr6:27559994-27560044	MCF10A-Er-Src	breast:	n/a
32	chr6:27559994-27560044	CMK	blood:	n/a
33	chr6:27559994-27560044	NHDF-neo	bronchial:	n/a
34	chr6:27559994-27560044	BJ	skin:	n/a
35	chr6:27559994-27560044	NT2-D1	testis:	n/a
36	chr6:27559994-27560044	RPTEC	kidney:	n/a
37	chr6:27559994-27560044	Caco-2	colon:	n/a
38	chr6:27559994-27560044	PrEC	prostate:	n/a
39	chr6:27559994-27560044	HRCEpiC	kidney:	n/a
40	chr6:27559994-27560044	HEEpiC	esophagus:	n/a
41	chr6:27559994-27560044	HMEC	breast:	n/a
42	chr6:27559994-27560044	AG04449	skin:	fetal
43	chr6:27559994-27560044	PANC-1	pancreas:	n/a
44	chr6:27559994-27560044	GM12878	blood:	n/a
45	chr6:27559994-27560044	HCPEpiC	choroid plexus:	n/a
46	chr6:27559994-27560044	GM12891	blood:	n/a
47	chr6:27559994-27560044	A549	lung:	n/a
48	chr6:27559994-27560044	SK-N-SH	brain:	n/a
49	chr6:27559994-27560044	PFSK-1	brain:	n/a
50	chr6:27559994-27560044	NHBE	bronchial:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27558513..27562026-chr6:27562388..27564787,3	K562	blood:
2	chr6:27519483..27521116-chr6:27558602..27560332,2	K562	blood:
3	chr6:27485761..27488358-chr6:27559045..27561077,2	K562	blood:
4	chr6:27516649..27519121-chr6:27558606..27561383,2	K562	blood:
5	chr6:27549818..27556949-chr6:27557615..27563432,7	K562	blood:
6	chr6:27549715..27554180-chr6:27555593..27563261,8	K562	blood:
7	chr6:27558583..27561214-chr6:27719565..27721812,2	K562	blood:
8	chr6:27559085..27561066-chr6:27755940..27758239,2	K562	blood:
9	chr6:27558513..27561961-chr6:27562522..27566444,4	K562	blood:
10	chr6:27559025..27560718-chr6:27653331..27656285,2	K562	blood:
11	chr6:27513701..27516143-chr6:27559137..27561028,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-471P	TF binding region
RNU6-471P	CpG island
ENSG00000206671	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56300543	0.90[AFR][1000 genomes]
rs57451619	0.85[AFR][1000 genomes]
rs58103199	0.90[AFR][1000 genomes]
rs58176220	1.00[AFR][1000 genomes]
rs59760836	0.90[AFR][1000 genomes]
rs60226202	0.90[AFR][1000 genomes]
rs61471498	0.80[AFR][1000 genomes]
rs73739108	0.90[AFR][1000 genomes]
rs73739109	0.90[AFR][1000 genomes]
rs73739123	0.90[AFR][1000 genomes]
rs73739134	0.90[AFR][1000 genomes]
rs73739136	0.90[AFR][1000 genomes]
rs73739138	0.90[AFR][1000 genomes]
rs73739147	0.90[AFR][1000 genomes]
rs73739148	1.00[AFR][1000 genomes]
rs73739149	0.90[AFR][1000 genomes]
rs73739152	0.90[AFR][1000 genomes]
rs73739153	0.90[AFR][1000 genomes]
rs73739155	0.90[AFR][1000 genomes]
rs73739170	1.00[AFR][1000 genomes]
rs73739171	0.90[AFR][1000 genomes]
rs73739173	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883509	chr6:27492906-27586181	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1018107	chr6:27503525-27596736	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv538168	chr6:27503525-27596736	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27559200-27560800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:27559200-27560800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:27559400-27560400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr6:27559400-27560800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr6:27559400-27560800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:27559400-27560800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr6:27559400-27560800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:27559400-27560800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
9	chr6:27559400-27560800	Active TSS	K562	blood
10	chr6:27559400-27561000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:27559400-27561200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr6:27559400-27561200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:27559600-27560200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:27559600-27560400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr6:27559600-27560600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:27559600-27560600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr6:27559600-27560600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:27559600-27560600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr6:27559600-27560600	Active TSS	GM12878-XiMat	blood
20	chr6:27559600-27560800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:27559600-27560800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:27559600-27560800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:27559600-27560800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:27559600-27560800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:27559600-27560800	Flanking Active TSS	HUVEC	blood vessel
26	chr6:27559600-27561000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:27559600-27561000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:27559600-27561000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:27559600-27561000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr6:27559600-27561000	Active TSS	NH-A	brain
31	chr6:27559600-27561200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:27559600-27561400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:27559600-27561400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:27559600-27561400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:27559600-27561600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr6:27559600-27561600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:27559600-27561800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:27559600-27562000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:27559600-27562200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:27559600-27562200	Active TSS	A549	lung
41	chr6:27559600-27562600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:27559600-27562800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr6:27559800-27560200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:27559800-27560200	Flanking Active TSS	Hela-S3	cervix
45	chr6:27559800-27560200	Flanking Active TSS	HMEC	breast
46	chr6:27559800-27560200	Flanking Active TSS	NHEK	skin
47	chr6:27559800-27560400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr6:27559800-27560400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:27559800-27560600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:27559800-27560600	Active TSS	Placenta	Placenta

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