Variant report

Variant	rs73768119
Chromosome Location	chr5:81047977-81047978
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	TCF7L2	chr5:81047182-81048028	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr5:81046452-81048131	Hela-S3	cervix:	n/a	chr5:81047029-81047039 chr5:81046972-81046981
3	POLR2A	chr5:81047813-81047982	Hela-S3	cervix:	n/a	n/a
4	ZNF143	chr5:81047876-81048031	K562	blood:	n/a	n/a
5	MAX	chr5:81046487-81048283	A549	lung:	n/a	chr5:81047029-81047039 chr5:81046972-81046981
6	POLR2A	chr5:81046698-81048299	PBDE	blood:	n/a	n/a
7	JUND	chr5:81046526-81048631	SK-N-SH	brain:	n/a	chr5:81046600-81046609 chr5:81047761-81047772
8	SMARCB1	chr5:81045953-81048070	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:81046693-81048078	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr5:81046628-81048007	K562	blood:	n/a	n/a
11	CCNT2	chr5:81046068-81048050	K562	blood:	n/a	chr5:81047791-81047800 chr5:81047254-81047263
12	POLR2A	chr5:81046726-81048437	MCF10A-Er-Src	breast:	n/a	n/a
13	MTA3	chr5:81046437-81048214	GM12878	blood:	n/a	n/a
14	RCOR1	chr5:81046771-81048210	Hela-S3	cervix:	n/a	n/a
15	GTF2F1	chr5:81047932-81048138	Hela-S3	cervix:	n/a	n/a
16	HMGN3	chr5:81045751-81048264	K562	blood:	n/a	n/a
17	HA-E2F1	chr5:81046758-81048117	MCF-7	breast:	n/a	chr5:81047263-81047272
18	POLR2A	chr5:81046348-81048327	K562	blood:	n/a	n/a
19	MAX	chr5:81046374-81048100	NB4	blood:	n/a	chr5:81047029-81047039 chr5:81046972-81046981
20	GATA1	chr5:81046891-81049399	PBDE	blood:	n/a	chr5:81048761-81048771 chr5:81048711-81048722
21	TCF12	chr5:81046625-81048179	A549	lung:	n/a	n/a
22	SMC3	chr5:81046671-81048265	Hela-S3	cervix:	n/a	chr5:81047781-81047791
23	TBP	chr5:81046709-81048378	K562	blood:	n/a	n/a
24	RCOR1	chr5:81047854-81048418	K562	blood:	n/a	n/a
25	HCFC1	chr5:81046359-81048321	Hela-S3	cervix:	n/a	n/a
26	UBTF	chr5:81047080-81048509	K562	blood:	n/a	n/a
27	POLR2A	chr5:81046659-81048443	K562	blood:	n/a	n/a
28	GATA2	chr5:81046816-81048548	SH-SY5Y	brain:	n/a	n/a
29	UBTF	chr5:81045767-81048661	K562	blood:	n/a	n/a
30	POLR2A	chr5:81046573-81048002	A549	lung:	n/a	n/a
31	POLR2A	chr5:81047936-81048563	K562	blood:	n/a	n/a
32	EP300	chr5:81046497-81048713	SK-N-SH	brain:	n/a	chr5:81046588-81046604 chr5:81047266-81047275
33	POLR2A	chr5:81046565-81048435	K562	blood:	n/a	n/a
34	POLR2A	chr5:81046545-81048349	GM12878	blood:	n/a	n/a
35	EP300	chr5:81047911-81048595	K562	blood:	n/a	n/a
36	POLR2A	chr5:81046540-81048095	Hela-S3	cervix:	n/a	n/a
37	MAX	chr5:81046653-81048046	Hela-S3	cervix:	n/a	chr5:81047029-81047039 chr5:81046972-81046981
38	POLR2A	chr5:81045289-81047989	GM15510	blood:	n/a	n/a
39	POLR2A	chr5:81046728-81048081	HEK293	kidney:	n/a	n/a
40	RELA	chr5:81046470-81048022	GM12891	blood:	n/a	n/a
41	JUND	chr5:81046735-81048381	K562	blood:	n/a	chr5:81047761-81047772
42	POLR2A	chr5:81045435-81048045	GM18951	blood:	n/a	n/a
43	MAZ	chr5:81046444-81048527	K562	blood:	n/a	chr5:81047029-81047039 chr5:81046972-81046981
44	POLR2A	chr5:81046444-81048322	GM19193	blood:	n/a	n/a
45	POLR2A	chr5:81046406-81048041	GM12892	blood:	n/a	n/a
46	E2F4	chr5:81046410-81048085	K562	blood:	n/a	chr5:81047263-81047272 chr5:81046417-81046429
47	POLR2A	chr5:81046475-81048044	Gliobla	brain:	n/a	n/a
48	EP300	chr5:81046514-81048017	ECC-1	luminal epithelium:	n/a	chr5:81046588-81046604 chr5:81047266-81047275
49	POLR2A	chr5:81046567-81048133	Hela-S3	cervix:	n/a	n/a
50	CTBP2	chr5:81046763-81048054	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:81045699..81050245-chr5:81142897..81150556,22	MCF-7	breast:
2	chr5:81046850..81048241-chr5:81147402..81148427,4	Hela-S3	cervix:
3	chr5:80808501..80811000-chr5:81045914..81048051,2	MCF-7	breast:
4	chr5:81047832..81049783-chr5:81150744..81153734,2	MCF-7	breast:
5	chr5:81043503..81052108-chr5:81144332..81149960,26	MCF-7	breast:
6	chr5:81045316..81049074-chr5:81266561..81269658,5	K562	blood:
7	chr5:81047531..81050440-chr5:81268054..81269557,2	K562	blood:
8	chr5:81047664..81050586-chr5:81054821..81057159,3	MCF-7	breast:
9	chr5:81044026..81052051-chr5:81142054..81153115,35	K562	blood:
10	chr5:81044752..81060050-chr5:81140268..81152732,43	K562	blood:

Variant related genes	Relation type
SSBP2	TF binding region
ENSG00000152348	Chromatin interaction
ENSG00000249483	Chromatin interaction
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11952518	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56171371	1.00[AMR][1000 genomes]
rs57455684	1.00[AMR][1000 genomes]
rs57679797	1.00[AMR][1000 genomes]
rs57695076	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60796217	0.85[AMR][1000 genomes]
rs60863858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6452421	0.85[AMR][1000 genomes]
rs6893327	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6897697	0.85[AMR][1000 genomes]
rs73766271	0.85[AMR][1000 genomes]
rs73766289	0.85[AMR][1000 genomes]
rs73766290	0.85[AMR][1000 genomes]
rs73766295	1.00[AMR][1000 genomes]
rs73766298	1.00[AMR][1000 genomes]
rs73766300	0.85[AMR][1000 genomes]
rs73768105	1.00[AMR][1000 genomes]
rs73768115	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768122	0.85[AMR][1000 genomes]
rs73768123	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7719738	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735543	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81044400-81048200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:81044600-81048000	Active TSS	Aorta	Aorta
3	chr5:81044600-81048200	Active TSS	Brain Anterior Caudate	brain
4	chr5:81044800-81048000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr5:81044800-81048600	Active TSS	Rectal Smooth Muscle	rectum
6	chr5:81045000-81048000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:81045000-81048000	Active TSS	Duodenum Mucosa	Duodenum
8	chr5:81045000-81048000	Active TSS	Fetal Kidney	kidney
9	chr5:81045000-81048000	Active TSS	Ovary	ovary
10	chr5:81045000-81048000	Active TSS	Psoas Muscle	Psoas
11	chr5:81045000-81048200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr5:81045000-81048200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:81045000-81048200	Active TSS	Right Ventricle	heart
14	chr5:81045200-81048000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:81045200-81048000	Active TSS	Brain Angular Gyrus	brain
16	chr5:81045200-81048000	Active TSS	Brain Cingulate Gyrus	brain
17	chr5:81045200-81048000	Active TSS	Colon Smooth Muscle	Colon
18	chr5:81045200-81048000	Active TSS	Lung	lung
19	chr5:81045200-81048200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:81045200-81048200	Active TSS	HSMMtube	muscle
21	chr5:81045400-81048000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:81045400-81048000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:81045400-81048000	Active TSS	Brain Hippocampus Middle	brain
24	chr5:81045400-81048000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr5:81045400-81048000	Active TSS	HSMM	muscle
26	chr5:81045400-81048200	Active TSS	Esophagus	oesophagus
27	chr5:81045600-81048000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:81045600-81048000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:81045600-81048000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr5:81045600-81048000	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr5:81045600-81048000	Active TSS	Primary T cells from cord blood	blood
32	chr5:81045600-81048000	Active TSS	K562	blood
33	chr5:81045600-81048200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr5:81045600-81048200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr5:81045600-81048400	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr5:81046600-81048000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr5:81046800-81048000	Bivalent/Poised TSS	HepG2	liver
38	chr5:81047000-81048000	Enhancers	Fetal Brain Male	brain
39	chr5:81047200-81048200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:81047400-81048000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:81047400-81048000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr5:81047400-81048200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr5:81047400-81048200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:81047400-81048200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr5:81047400-81048200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:81047400-81048200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr5:81047400-81048200	Flanking Active TSS	Dnd41	blood
48	chr5:81047400-81048400	Flanking Active TSS	HMEC	breast
49	chr5:81047600-81048000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:81047600-81048000	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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