Variant report

Variant	rs72842959
Chromosome Location	chr6:26383183-26383184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr6:26383089-26383553	GM19099	blood:	n/a	n/a
2	RFX5	chr6:26382422-26383954	HepG2	liver:	n/a	n/a
3	MAZ	chr6:26383144-26383859	HepG2	liver:	n/a	n/a
4	NFYB	chr6:26383117-26383568	K562	blood:	n/a	chr6:26383272-26383287
5	RFX5	chr6:26382275-26384235	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr6:26383137-26383493	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr6:26383164-26384265	GM12878	blood:	n/a	n/a
8	NFYA	chr6:26383146-26383445	GM12878	blood:	n/a	n/a
9	CREB1	chr6:26382847-26383718	K562	blood:	n/a	n/a
10	RFX5	chr6:26382119-26384806	IMR90	lung:	n/a	n/a
11	RFX5	chr6:26383001-26383604	Hela-S3	cervix:	n/a	n/a
12	SP1	chr6:26383078-26383410	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:26383160-26383638	K562	blood:	n/a	n/a
14	CREB1	chr6:26383166-26383441	A549	lung:	n/a	n/a
15	GTF2F1	chr6:26383073-26383490	K562	blood:	n/a	n/a
16	EP300	chr6:26383045-26383354	GM12878	blood:	n/a	chr6:26383158-26383172 chr6:26383159-26383168
17	TEAD4	chr6:26383166-26384660	K562	blood:	n/a	chr6:26383850-26383859
18	CREB1	chr6:26383016-26383600	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr6:26383160-26383790	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr6:26383014-26383637	GM12878	blood:	n/a	n/a
21	NFYA	chr6:26383145-26383459	Hela-S3	cervix:	n/a	n/a
22	MAZ	chr6:26383053-26383725	GM12878	blood:	n/a	n/a
23	CREB1	chr6:26382961-26383624	HepG2	liver:	n/a	n/a
24	ZNF143	chr6:26383102-26383494	K562	blood:	n/a	n/a
25	CREB1	chr6:26383168-26383457	A549	lung:	n/a	n/a
26	RFX5	chr6:26382993-26383785	GM12878	blood:	n/a	n/a
27	NFYB	chr6:26383133-26383456	Hela-S3	cervix:	n/a	chr6:26383272-26383287
28	USF2	chr6:26383130-26383396	Hela-S3	cervix:	n/a	n/a
29	RFX5	chr6:26382319-26384073	K562	blood:	n/a	n/a
30	BHLHE40	chr6:26383124-26383727	K562	blood:	n/a	n/a
31	CHD2	chr6:26383141-26383567	GM12878	blood:	n/a	n/a
32	ATF1	chr6:26383091-26383465	K562	blood:	n/a	n/a
33	CUX1	chr6:26383050-26383235	GM12878	blood:	n/a	n/a
34	CREB1	chr6:26382960-26383680	HepG2	liver:	n/a	n/a
35	NR2F2	chr6:26383162-26384463	K562	blood:	n/a	chr6:26384308-26384323
36	CREB1	chr6:26383016-26383672	GM12878	blood:	n/a	n/a
37	JUN	chr6:26382355-26384873	K562	blood:	n/a	chr6:26383677-26383691 chr6:26383606-26383615
38	ZNF143	chr6:26383130-26383720	GM12878	blood:	n/a	n/a
39	CREB1	chr6:26383026-26383504	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr6:26383180-26383783	SK-N-MC	brain:	n/a	n/a
41	ZNF143	chr6:26383129-26383630	H1-hESC	embryonic stem cell:	n/a	n/a
42	NFYB	chr6:26383117-26383508	GM12878	blood:	n/a	chr6:26383272-26383287
43	HEY1	chr6:26383126-26383590	HepG2	liver:	n/a	n/a
44	RFX5	chr6:26381004-26384871	SK-N-SH	brain:	n/a	n/a
45	BHLHE40	chr6:26383051-26383475	GM12878	blood:	n/a	n/a
46	SP1	chr6:26383030-26383518	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr6:26383179-26383557	PANC-1	pancreas:	n/a	n/a
48	MTA3	chr6:26383169-26384228	GM12878	blood:	n/a	n/a
49	TBL1XR1	chr6:26383105-26383430	K562	blood:	n/a	n/a
50	IRF3	chr6:26383128-26383426	GM12878	blood:	n/a	chr6:26383156-26383176

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26363140..26366680-chr6:26382117..26385194,3	MCF-7	breast:
2	chr6:26378930..26384775-chr6:26385231..26390850,8	MCF-7	breast:
3	chr6:26381677..26383433-chr6:26537712..26539518,2	K562	blood:
4	chr6:26382632..26385246-chr6:26444412..26446084,2	K562	blood:
5	chr6:26376258..26380187-chr6:26381333..26383262,3	K562	blood:
6	chr6:26188276..26190980-chr6:26381179..26383865,2	K562	blood:
7	chr6:26056232..26057928-chr6:26382432..26384674,2	K562	blood:

No data

Variant related genes	Relation type
BTN2A2	TF binding region
ENSG00000182952	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000124508	Chromatin interaction
ENSG00000215979	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000186470	Chromatin interaction
ENSG00000111801	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3757143	0.81[EUR][1000 genomes]
rs41267929	1.00[ASN][1000 genomes]
rs55674248	1.00[ASN][1000 genomes]
rs55676749	1.00[ASN][1000 genomes]
rs56141019	1.00[ASN][1000 genomes]
rs60141514	1.00[ASN][1000 genomes]
rs62617839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921148	1.00[ASN][1000 genomes]
rs72841546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73736247	1.00[ASN][1000 genomes]
rs73736248	1.00[ASN][1000 genomes]
rs9942500	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv883491	chr6:26367689-26410800	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv883492	chr6:26367689-26436592	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv883493	chr6:26367689-26442786	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv883494	chr6:26367833-26442786	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv883495	chr6:26367833-26443853	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3334611	chr6:26367893-26443308	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
13	nsv883496	chr6:26369549-26413088	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv883497	chr6:26369549-26442786	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv883498	chr6:26369549-26443853	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1030863	chr6:26371006-26405990	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv883499	chr6:26377591-26454454	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
18	esv3427999	chr6:26378373-26453532	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
19	esv1807546	chr6:26378681-26387546	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
20	nsv462664	chr6:26379537-26451553	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv601184	chr6:26379537-26451553	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26366000-26383200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:26366000-26383200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:26366000-26383200	Weak transcription	Pancreas	Pancrea
4	chr6:26366000-26383200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:26366000-26383200	Weak transcription	HSMMtube	muscle
6	chr6:26366000-26383400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:26366200-26383200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:26366200-26383200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:26367000-26383200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:26370800-26383200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:26371000-26383200	Weak transcription	Right Ventricle	heart
12	chr6:26375200-26383200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:26375200-26383200	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:26375200-26383200	Weak transcription	Fetal Lung	lung
15	chr6:26375200-26383200	Weak transcription	Osteobl	bone
16	chr6:26375600-26383200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:26375600-26383200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:26375800-26383200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:26375800-26383200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:26375800-26383200	Weak transcription	Placenta	Placenta
21	chr6:26375800-26383200	Weak transcription	Hela-S3	cervix
22	chr6:26376000-26383200	Weak transcription	Esophagus	oesophagus
23	chr6:26376000-26383200	Weak transcription	Ovary	ovary
24	chr6:26376000-26383400	Weak transcription	Gastric	stomach
25	chr6:26376200-26383200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:26376200-26383200	Weak transcription	Left Ventricle	heart
27	chr6:26377000-26383200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:26377000-26383200	Weak transcription	Aorta	Aorta
29	chr6:26377000-26383200	Weak transcription	Colonic Mucosa	Colon
30	chr6:26377000-26383200	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:26377000-26383200	Weak transcription	NHLF	lung
32	chr6:26377200-26383200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:26377600-26383200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:26377600-26383200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:26377800-26383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:26377800-26383200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:26377800-26383200	Weak transcription	GM12878-XiMat	blood
38	chr6:26378000-26383200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:26378000-26383200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:26378000-26383200	Weak transcription	Fetal Stomach	stomach
41	chr6:26378200-26383200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:26378200-26383200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:26378200-26383200	Weak transcription	Lung	lung
44	chr6:26378200-26383200	Weak transcription	Thymus	Thymus
45	chr6:26378200-26383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:26378400-26383200	Weak transcription	Fetal Thymus	thymus
47	chr6:26379000-26383200	Weak transcription	Primary T cells from cord blood	blood
48	chr6:26379400-26383200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:26380000-26383200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr6:26380200-26383400	Weak transcription	Small Intestine	intestine

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