Variant report

Variant	rs73768120
Chromosome Location	chr5:81048106-81048107
allele	C/T
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	MAZ	chr5:81046452-81048131	Hela-S3	cervix:	n/a	chr5:81047029-81047039 chr5:81046972-81046981
2	MAX	chr5:81046487-81048283	A549	lung:	n/a	chr5:81047029-81047039 chr5:81046972-81046981
3	POLR2A	chr5:81046698-81048299	PBDE	blood:	n/a	n/a
4	JUND	chr5:81046526-81048631	SK-N-SH	brain:	n/a	chr5:81046600-81046609 chr5:81047761-81047772
5	POLR2A	chr5:81046726-81048437	MCF10A-Er-Src	breast:	n/a	n/a
6	MTA3	chr5:81046437-81048214	GM12878	blood:	n/a	n/a
7	RCOR1	chr5:81046771-81048210	Hela-S3	cervix:	n/a	n/a
8	GTF2F1	chr5:81047932-81048138	Hela-S3	cervix:	n/a	n/a
9	HMGN3	chr5:81045751-81048264	K562	blood:	n/a	n/a
10	HA-E2F1	chr5:81046758-81048117	MCF-7	breast:	n/a	chr5:81047263-81047272
11	POLR2A	chr5:81046348-81048327	K562	blood:	n/a	n/a
12	GATA1	chr5:81046891-81049399	PBDE	blood:	n/a	chr5:81048761-81048771 chr5:81048711-81048722
13	TCF12	chr5:81046625-81048179	A549	lung:	n/a	n/a
14	SMC3	chr5:81046671-81048265	Hela-S3	cervix:	n/a	chr5:81047781-81047791
15	TBP	chr5:81046709-81048378	K562	blood:	n/a	n/a
16	RCOR1	chr5:81047854-81048418	K562	blood:	n/a	n/a
17	HCFC1	chr5:81046359-81048321	Hela-S3	cervix:	n/a	n/a
18	MAFK	chr5:81048009-81048256	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr5:81047996-81048131	Hela-S3	cervix:	n/a	n/a
20	UBTF	chr5:81047080-81048509	K562	blood:	n/a	n/a
21	POLR2A	chr5:81046659-81048443	K562	blood:	n/a	n/a
22	GATA2	chr5:81046816-81048548	SH-SY5Y	brain:	n/a	n/a
23	UBTF	chr5:81045767-81048661	K562	blood:	n/a	n/a
24	POLR2A	chr5:81047936-81048563	K562	blood:	n/a	n/a
25	EP300	chr5:81046497-81048713	SK-N-SH	brain:	n/a	chr5:81046588-81046604 chr5:81047266-81047275
26	ZKSCAN1	chr5:81048087-81048111	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr5:81046565-81048435	K562	blood:	n/a	n/a
28	POLR2A	chr5:81046545-81048349	GM12878	blood:	n/a	n/a
29	EP300	chr5:81047911-81048595	K562	blood:	n/a	n/a
30	JUND	chr5:81046735-81048381	K562	blood:	n/a	chr5:81047761-81047772
31	MAZ	chr5:81046444-81048527	K562	blood:	n/a	chr5:81047029-81047039 chr5:81046972-81046981
32	POLR2A	chr5:81046444-81048322	GM19193	blood:	n/a	n/a
33	POLR2A	chr5:81046567-81048133	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr5:81046634-81048374	K562	blood:	n/a	n/a
35	TCF12	chr5:81046603-81048128	ECC-1	luminal epithelium:	n/a	n/a
36	MAZ	chr5:81045205-81048293	IMR90	lung:	n/a	chr5:81047029-81047039 chr5:81046972-81046981
37	POLR2A	chr5:81046498-81048514	GM12891	blood:	n/a	n/a
38	POLR2A	chr5:81046644-81048541	K562	blood:	n/a	n/a
39	TBL1XR1	chr5:81047831-81048239	K562	blood:	n/a	n/a
40	MYC	chr5:81046657-81048357	K562	blood:	n/a	chr5:81047029-81047039 chr5:81046972-81046981
41	JUN	chr5:81046548-81048464	K562	blood:	n/a	chr5:81046600-81046609 chr5:81047761-81047772
42	POLR2A	chr5:81046674-81048472	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:81046651-81048462	K562	blood:	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	chr5:81047832..81049783-chr5:81150744..81153734,2	MCF-7	breast:
4	chr5:81043503..81052108-chr5:81144332..81149960,26	MCF-7	breast:
5	chr5:81045316..81049074-chr5:81266561..81269658,5	K562	blood:
6	chr5:81047531..81050440-chr5:81268054..81269557,2	K562	blood:
7	chr5:81047664..81050586-chr5:81054821..81057159,3	MCF-7	breast:
8	chr5:81044026..81052051-chr5:81142054..81153115,35	K562	blood:
9	chr5:81044752..81060050-chr5:81140268..81152732,43	K562	blood:

Variant related genes	Relation type
SSBP2	TF binding region
ENSG00000249483	Chromatin interaction
ENSG00000152348	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]
rs73768119	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:121 , 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	chr5:81044600-81048200	Active TSS	Brain Anterior Caudate	brain
3	chr5:81044800-81048600	Active TSS	Rectal Smooth Muscle	rectum
4	chr5:81045000-81048200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr5:81045000-81048200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:81045000-81048200	Active TSS	Right Ventricle	heart
7	chr5:81045200-81048200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:81045200-81048200	Active TSS	HSMMtube	muscle
9	chr5:81045400-81048200	Active TSS	Esophagus	oesophagus
10	chr5:81045600-81048200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr5:81045600-81048200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr5:81045600-81048400	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr5:81047200-81048200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:81047400-81048200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr5:81047400-81048200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:81047400-81048200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:81047400-81048200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:81047400-81048200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr5:81047400-81048200	Flanking Active TSS	Dnd41	blood
20	chr5:81047400-81048400	Flanking Active TSS	HMEC	breast
21	chr5:81047600-81048200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:81047600-81048200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr5:81047600-81048200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:81047600-81048200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr5:81047600-81048200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:81047600-81048200	Flanking Active TSS	Colonic Mucosa	Colon
27	chr5:81047600-81048200	Flanking Active TSS	Fetal Thymus	thymus
28	chr5:81047600-81048400	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr5:81047600-81048400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr5:81047600-81048400	Flanking Active TSS	NHEK	skin
31	chr5:81047800-81048200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:81047800-81048200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:81047800-81048200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:81047800-81048200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:81047800-81048200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:81047800-81048200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr5:81047800-81048200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:81047800-81048200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr5:81047800-81048200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr5:81047800-81048200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:81047800-81048200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:81047800-81048200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:81047800-81048200	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr5:81047800-81048200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr5:81047800-81048200	Flanking Active TSS	Fetal Heart	heart
46	chr5:81047800-81048200	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr5:81047800-81048200	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr5:81047800-81048200	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr5:81047800-81048200	Flanking Active TSS	Pancreas	Pancrea
50	chr5:81047800-81048200	Flanking Active TSS	Stomach Mucosa	stomach

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