Variant report

Variant	rs73401247
Chromosome Location	chr6:27559656-27559657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:100)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:100 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr6:27559344-27559892	GM12878	blood:	n/a	n/a
2	YY1	chr6:27559446-27559718	A549	lung:	n/a	n/a
3	BCLAF1	chr6:27559389-27559869	GM12878	blood:	n/a	n/a
4	EP300	chr6:27559470-27559846	K562	blood:	n/a	n/a
5	CEBPB	chr6:27559479-27559784	HepG2	liver:	n/a	n/a
6	TEAD4	chr6:27559481-27559920	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF12	chr6:27559318-27559913	A549	lung:	n/a	n/a
8	SP4	chr6:27559442-27559813	H1-hESC	embryonic stem cell:	n/a	n/a
9	GABPA	chr6:27559507-27559703	Hela-S3	cervix:	n/a	n/a
10	SIN3A	chr6:27559517-27561282	H1-hESC	embryonic stem cell:	n/a	chr6:27561096-27561109
11	POU2F2	chr6:27559523-27559716	GM12878	blood:	n/a	n/a
12	YY1	chr6:27559481-27559742	ECC-1	luminal epithelium:	n/a	n/a
13	GABPA	chr6:27559561-27559701	Hela-S3	cervix:	n/a	n/a
14	RFX5	chr6:27559491-27559845	K562	blood:	n/a	n/a
15	USF1	chr6:27559456-27559828	A549	lung:	n/a	n/a
16	TAL1	chr6:27559544-27559713	K562	blood:	n/a	n/a
17	IRF4	chr6:27559445-27559759	GM12878	blood:	n/a	n/a
18	TCF12	chr6:27559494-27559702	GM12878	blood:	n/a	n/a
19	SP1	chr6:27559380-27559849	A549	lung:	n/a	n/a
20	ATF3	chr6:27559169-27561107	A549	lung:	n/a	n/a
21	TEAD4	chr6:27559427-27559987	A549	lung:	n/a	n/a
22	TEAD4	chr6:27559395-27559863	ECC-1	luminal epithelium:	n/a	n/a
23	USF1	chr6:27559510-27559733	HepG2	liver:	n/a	n/a
24	TAF7	chr6:27559440-27559890	H1-hESC	embryonic stem cell:	n/a	n/a
25	TBP	chr6:27559482-27559882	GM12878	blood:	n/a	n/a
26	CTCF	chr6:27559580-27559730	HepG2	liver:	n/a	n/a
27	ETS1	chr6:27559406-27559762	A549	lung:	n/a	n/a
28	ARID3A	chr6:27559319-27559913	K562	blood:	n/a	n/a
29	ATF3	chr6:27559284-27559991	HCT-116	colon:	n/a	n/a
30	TBL1XR1	chr6:27559329-27560883	K562	blood:	n/a	n/a
31	GTF3C2	chr6:27559312-27559770	Hela-S3	cervix:	n/a	n/a
32	USF1	chr6:27559439-27559804	A549	lung:	n/a	n/a
33	REST	chr6:27559470-27559739	A549	lung:	n/a	n/a
34	TEAD4	chr6:27559292-27559937	HepG2	liver:	n/a	n/a
35	REST	chr6:27559404-27559963	A549	lung:	n/a	n/a
36	ATF2	chr6:27559408-27559880	H1-hESC	embryonic stem cell:	n/a	n/a
37	BDP1	chr6:27559489-27559888	Hela-S3	cervix:	n/a	n/a
38	JUND	chr6:27559468-27559743	HepG2	liver:	n/a	n/a
39	SP1	chr6:27559526-27559792	GM12878	blood:	n/a	n/a
40	SIN3AK20	chr6:27559511-27559735	HepG2	liver:	n/a	n/a
41	TEAD4	chr6:27559243-27561438	K562	blood:	n/a	n/a
42	UBTF	chr6:27559528-27560776	K562	blood:	n/a	n/a
43	KAP1	chr6:27559407-27561228	HEK293	kidney:	n/a	n/a
44	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
45	RXRA	chr6:27559465-27559774	HepG2	liver:	n/a	n/a
46	EP300	chr6:27559539-27559750	GM12878	blood:	n/a	n/a
47	USF1	chr6:27559510-27559749	HepG2	liver:	n/a	n/a
48	HSF1	chr6:27559480-27559789	HepG2	liver:	n/a	n/a
49	RPC155	chr6:27559380-27559864	K562	blood:	n/a	n/a
50	TEAD4	chr6:27559464-27559833	A549	lung:	n/a	n/a

No data

(count:12 , 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	chr6:27559026..27559950-chr6:27635820..27636482,2	K562	blood:
5	chr6:27516649..27519121-chr6:27558606..27561383,2	K562	blood:
6	chr6:27549818..27556949-chr6:27557615..27563432,7	K562	blood:
7	chr6:27549715..27554180-chr6:27555593..27563261,8	K562	blood:
8	chr6:27558583..27561214-chr6:27719565..27721812,2	K562	blood:
9	chr6:27559085..27561066-chr6:27755940..27758239,2	K562	blood:
10	chr6:27558513..27561961-chr6:27562522..27566444,4	K562	blood:
11	chr6:27559025..27560718-chr6:27653331..27656285,2	K562	blood:
12	chr6:27513701..27516143-chr6:27559137..27561028,2	K562	blood:

No data

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs73383111	1.00[AMR][1000 genomes]
rs73383122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385130	1.00[AMR][1000 genomes]
rs73387078	1.00[AMR][1000 genomes]
rs73387092	1.00[AMR][1000 genomes]
rs73397375	1.00[AMR][1000 genomes]
rs73399320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401252	1.00[AMR][1000 genomes]
rs9688562	1.00[AMR][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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27559000-27559800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:27559200-27560800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:27559200-27560800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:27559400-27560000	Active TSS	HepG2	liver
5	chr6:27559400-27560400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr6:27559400-27560800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:27559400-27560800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:27559400-27560800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:27559400-27560800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:27559400-27560800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
11	chr6:27559400-27560800	Active TSS	K562	blood
12	chr6:27559400-27561000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:27559400-27561200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr6:27559400-27561200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:27559600-27559800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:27559600-27559800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:27559600-27559800	Bivalent Enhancer	Brain Germinal Matrix	brain
18	chr6:27559600-27559800	Active TSS	Hela-S3	cervix
19	chr6:27559600-27559800	Active TSS	HMEC	breast
20	chr6:27559600-27559800	Active TSS	NHEK	skin
21	chr6:27559600-27560000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:27559600-27560000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:27559600-27560000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
24	chr6:27559600-27560000	Bivalent Enhancer	Fetal Stomach	stomach
25	chr6:27559600-27560000	Active TSS	Osteobl	bone
26	chr6:27559600-27560200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:27559600-27560400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr6:27559600-27560600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:27559600-27560600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr6:27559600-27560600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:27559600-27560600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr6:27559600-27560600	Active TSS	GM12878-XiMat	blood
33	chr6:27559600-27560800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:27559600-27560800	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:27559600-27560800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:27559600-27560800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:27559600-27560800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:27559600-27560800	Flanking Active TSS	HUVEC	blood vessel
39	chr6:27559600-27561000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:27559600-27561000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:27559600-27561000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:27559600-27561000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr6:27559600-27561000	Active TSS	NH-A	brain
44	chr6:27559600-27561200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:27559600-27561400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:27559600-27561400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:27559600-27561400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:27559600-27561600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr6:27559600-27561600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:27559600-27561800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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