Variant report

Variant	rs73386299
Chromosome Location	chr6:25140027-25140028
allele	C/G
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	POLR2A	chr6:25139792-25140126	SK-N-MC	brain:	n/a	n/a
2	SIN3AK20	chr6:25140027-25140152	HepG2	liver:	n/a	n/a
3	CTCF	chr6:25139900-25140050	HCPEpiC	choroid plexus:	n/a	n/a
4	YY1	chr6:25139831-25140121	H1-hESC	embryonic stem cell:	n/a	chr6:25139928-25139936 chr6:25139917-25139939 chr6:25139927-25139939 chr6:25139929-25139939 chr6:25139924-25139940
5	POLR2A	chr6:25139792-25140211	GM12878	blood:	n/a	n/a
6	TAF1	chr6:25139822-25140125	GM12891	blood:	n/a	n/a
7	POLR2A	chr6:25139919-25140133	MCF-7	breast:	n/a	n/a
8	HEY1	chr6:25139815-25140093	K562	blood:	n/a	chr6:25139984-25139999
9	MAX	chr6:25139846-25140066	K562	blood:	n/a	n/a
10	E2F6	chr6:25139837-25140062	K562	blood:	n/a	n/a
11	POLR2A	chr6:25139854-25140184	GM12878	blood:	n/a	n/a
12	YY1	chr6:25139745-25140151	K562	blood:	n/a	chr6:25139928-25139936 chr6:25139917-25139939 chr6:25139927-25139939 chr6:25139929-25139939 chr6:25139924-25139940
13	YY1	chr6:25139770-25140069	GM12878	blood:	n/a	chr6:25139928-25139936 chr6:25139917-25139939 chr6:25139927-25139939 chr6:25139929-25139939 chr6:25139924-25139940
14	POLR2A	chr6:25139841-25140077	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr6:25139770-25140130	GM12892	blood:	n/a	chr6:25139928-25139936 chr6:25139917-25139939 chr6:25139927-25139939 chr6:25139929-25139939 chr6:25139924-25139940
16	TAF1	chr6:25139827-25140122	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:25139910-25140066	HUVEC	blood vessel:	n/a	n/a
18	TAF1	chr6:25139843-25140070	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:25139757-25140171	GM12892	blood:	n/a	n/a
20	POLR2A	chr6:25139836-25140104	A549	lung:	n/a	n/a
21	TAF1	chr6:25139832-25140085	GM12891	blood:	n/a	n/a
22	POLR2A	chr6:25139840-25140067	GM12891	blood:	n/a	n/a
23	POLR2A	chr6:25139910-25140110	H1-hESC	embryonic stem cell:	n/a	n/a
24	HEY1	chr6:25139800-25140117	K562	blood:	n/a	chr6:25139984-25139999
25	POLR2A	chr6:25139880-25140031	A549	lung:	n/a	n/a
26	POLR2A	chr6:25139861-25140120	K562	blood:	n/a	n/a
27	POLR2A	chr6:25139928-25140129	MCF-7	breast:	n/a	n/a
28	TAF1	chr6:25139808-25140071	GM12892	blood:	n/a	n/a
29	YY1	chr6:25139797-25140085	K562	blood:	n/a	chr6:25139928-25139936 chr6:25139917-25139939 chr6:25139927-25139939 chr6:25139929-25139939 chr6:25139924-25139940
30	TAF1	chr6:25139819-25140214	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:25139839-25140077	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:25139861-25140028	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:25139815-25140115	Hela-S3	cervix:	n/a	n/a
34	YY1	chr6:25139811-25140085	A549	lung:	n/a	chr6:25139928-25139936 chr6:25139917-25139939 chr6:25139927-25139939 chr6:25139929-25139939 chr6:25139924-25139940
35	YY1	chr6:25139787-25140065	H1-hESC	embryonic stem cell:	n/a	chr6:25139928-25139936 chr6:25139917-25139939 chr6:25139927-25139939 chr6:25139929-25139939 chr6:25139924-25139940
36	YY1	chr6:25139818-25140040	GM12891	blood:	n/a	chr6:25139928-25139936 chr6:25139917-25139939 chr6:25139927-25139939 chr6:25139929-25139939 chr6:25139924-25139940
37	YY1	chr6:25139770-25140091	GM12892	blood:	n/a	chr6:25139928-25139936 chr6:25139917-25139939 chr6:25139927-25139939 chr6:25139929-25139939 chr6:25139924-25139940
38	POLR2A	chr6:25139801-25140106	GM12891	blood:	n/a	n/a
39	POLR2A	chr6:25139837-25140106	GM12878	blood:	n/a	n/a
40	POLR2A	chr6:25139746-25140211	ProgFib	skin:	n/a	n/a
41	POLR2A	chr6:25139786-25140286	GM12892	blood:	n/a	n/a
42	YY1	chr6:25139814-25140070	GM12878	blood:	n/a	chr6:25139928-25139936 chr6:25139917-25139939 chr6:25139927-25139939 chr6:25139929-25139939 chr6:25139924-25139940
43	HEY1	chr6:25139807-25140113	HepG2	liver:	n/a	chr6:25139984-25139999
44	MAX	chr6:25139782-25140131	K562	blood:	n/a	n/a
45	CTCF	chr6:25139920-25140070	NHEK	skin:	n/a	n/a
46	TAF1	chr6:25139866-25140028	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:25139866-25140225	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:25139928-25140128	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
CMAHP	TF binding region
ENSG00000219682	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57003751	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59778363	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6923293	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9654578	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv830611	chr6:25039374-25199112	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv470806	chr6:25082262-25156197	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv462662	chr6:25084718-25165486	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv601166	chr6:25084718-25165486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1798120	chr6:25136860-25149538	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1025694	chr6:25136860-25309450	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv969354	chr6:25139819-25141640	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25135200-25140200	Active TSS	Right Atrium	heart
2	chr6:25137000-25140200	Active TSS	Psoas Muscle	Psoas
3	chr6:25138000-25140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:25138400-25140200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:25138400-25140400	Active TSS	Fetal Intestine Large	intestine
6	chr6:25138800-25140200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:25138800-25152800	Weak transcription	Lung	lung
8	chr6:25139200-25154800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:25139400-25140200	Enhancers	Fetal Brain Male	brain
10	chr6:25139600-25140200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:25139600-25140200	Enhancers	Stomach Smooth Muscle	stomach
12	chr6:25139600-25140600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:25139600-25141800	Weak transcription	Fetal Thymus	thymus
14	chr6:25139600-25152800	Weak transcription	Thymus	Thymus
15	chr6:25139800-25140200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:25139800-25140200	Enhancers	Liver	Liver
17	chr6:25139800-25140200	Enhancers	GM12878-XiMat	blood
18	chr6:25139800-25140200	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr6:25139800-25140400	Active TSS	Fetal Lung	lung
20	chr6:25139800-25140400	Active TSS	Pancreas	Pancrea
21	chr6:25139800-25140800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:25140000-25140200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:25140000-25140200	Flanking Active TSS	Ovary	ovary
24	chr6:25140000-25140200	Enhancers	Right Ventricle	heart
25	chr6:25140000-25140600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:25140000-25140600	Enhancers	Dnd41	blood
27	chr6:25140000-25142600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:25140000-25143000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:25140000-25146800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:25140000-25146800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:25140000-25146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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