Variant report

Variant	rs73931455
Chromosome Location	chr19:41731876-41731877
allele	A/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	ATF3	chr19:41731186-41733152	A549	lung:	n/a	chr19:41731637-41731650 chr19:41732251-41732260
2	SIN3AK20	chr19:41731178-41732786	HCT-116	colon:	n/a	n/a
3	MAZ	chr19:41731596-41732610	HepG2	liver:	n/a	chr19:41732217-41732226 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
4	SIN3AK20	chr19:41731231-41732772	HCT-116	colon:	n/a	n/a
5	TBL1XR1	chr19:41731620-41732112	K562	blood:	n/a	n/a
6	STAT3	chr19:41731527-41732020	MCF10A-Er-Src	breast:	n/a	chr19:41731768-41731776
7	CHD2	chr19:41731704-41732573	K562	blood:	n/a	chr19:41732045-41732055 chr19:41732249-41732259
8	JUN	chr19:41731517-41732236	K562	blood:	n/a	chr19:41731564-41731576 chr19:41732094-41732106 chr19:41732097-41732108 chr19:41731638-41731651 chr19:41732095-41732104 chr19:41731853-41731867
9	FOS	chr19:41731332-41732285	Hela-S3	cervix:	n/a	chr19:41731564-41731576 chr19:41731724-41731735 chr19:41732094-41732106 chr19:41732267-41732276 chr19:41732097-41732108 chr19:41732095-41732104 chr19:41731853-41731867
10	POLR2A	chr19:41731741-41732046	H1-hESC	embryonic stem cell:	n/a	n/a
11	SMARCC1	chr19:41731299-41732741	Hela-S3	cervix:	n/a	chr19:41732095-41732104
12	EP300	chr19:41731029-41733372	A549	lung:	n/a	chr19:41732177-41732186 chr19:41732179-41732188 chr19:41732175-41732191 chr19:41732187-41732203 chr19:41731857-41731873
13	CEBPB	chr19:41731444-41732538	Hela-S3	cervix:	n/a	n/a
14	TBP	chr19:41731712-41732540	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr19:41731440-41732897	HepG2	liver:	n/a	chr19:41732217-41732226 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
16	EP300	chr19:41731509-41732403	SK-N-SH_RA	brain:	n/a	chr19:41732177-41732186 chr19:41732179-41732188 chr19:41732175-41732191 chr19:41732187-41732203 chr19:41731857-41731873
17	EGR1	chr19:41731549-41732462	K562	blood:	n/a	chr19:41732102-41732115 chr19:41732048-41732061 chr19:41732252-41732265 chr19:41732252-41732262
18	FOXP2	chr19:41731201-41732816	PFSK-1	brain:	n/a	chr19:41731516-41731528
19	CEBPB	chr19:41731308-41732660	A549	lung:	n/a	n/a
20	TCF12	chr19:41731355-41732571	ECC-1	luminal epithelium:	n/a	chr19:41732002-41732009
21	REST	chr19:41731206-41733199	A549	lung:	n/a	chr19:41733063-41733076 chr19:41732188-41732198
22	CBX3	chr19:41731407-41732712	K562	blood:	n/a	n/a
23	POLR2A	chr19:41731729-41732809	A549	lung:	n/a	n/a
24	FOSL2	chr19:41731473-41732369	HepG2	liver:	n/a	chr19:41731564-41731576 chr19:41732094-41732106 chr19:41732267-41732276 chr19:41732097-41732108 chr19:41732095-41732104 chr19:41731853-41731867
25	MAFK	chr19:41731481-41732301	Hela-S3	cervix:	n/a	n/a
26	JUND	chr19:41731290-41732491	SK-N-SH	brain:	n/a	chr19:41731564-41731576 chr19:41732094-41732106 chr19:41732267-41732276 chr19:41732097-41732108 chr19:41732095-41732104 chr19:41731853-41731867 chr19:41731605-41731616
27	NFIC	chr19:41731250-41732808	SK-N-SH	brain:	n/a	n/a
28	FOXA2	chr19:41731218-41732928	A549	lung:	n/a	chr19:41731516-41731528
29	JUND	chr19:41731451-41732227	Hela-S3	cervix:	n/a	chr19:41731564-41731576 chr19:41732094-41732106 chr19:41732097-41732108 chr19:41732095-41732104 chr19:41731853-41731867 chr19:41731605-41731616
30	ZBTB7A	chr19:41731598-41732588	K562	blood:	n/a	n/a
31	UBTF	chr19:41731599-41732638	K562	blood:	n/a	n/a
32	POLR2A	chr19:41731469-41731914	MCF10A-Er-Src	breast:	n/a	n/a
33	ZKSCAN1	chr19:41731353-41732383	Hela-S3	cervix:	n/a	n/a
34	MAX	chr19:41731852-41732954	HepG2	liver:	n/a	chr19:41732217-41732226 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
35	HEY1	chr19:41731626-41732537	K562	blood:	n/a	chr19:41732217-41732226
36	POLR2A	chr19:41731760-41732524	H1-hESC	embryonic stem cell:	n/a	n/a
37	GTF2F1	chr19:41731634-41732598	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr19:41731483-41732632	HUVEC	blood vessel:	n/a	chr19:41732217-41732226 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
39	MAX	chr19:41729124-41733421	A549	lung:	n/a	chr19:41732217-41732226 chr19:41729661-41729670 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
40	FOSL2	chr19:41731180-41732778	A549	lung:	n/a	chr19:41731564-41731576 chr19:41732094-41732106 chr19:41732267-41732276 chr19:41732097-41732108 chr19:41732095-41732104 chr19:41731853-41731867
41	MYC	chr19:41731533-41732596	K562	blood:	n/a	chr19:41732217-41732226 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
42	E2F6	chr19:41731655-41732732	A549	lung:	n/a	chr19:41732047-41732056 chr19:41732248-41732260 chr19:41732251-41732260 chr19:41732181-41732191 chr19:41732105-41732115
43	TBP	chr19:41731525-41732619	HepG2	liver:	n/a	n/a
44	MAX	chr19:41731398-41732653	NB4	blood:	n/a	chr19:41732217-41732226 chr19:41732252-41732262 chr19:41732215-41732224 chr19:41732218-41732225
45	EGR1	chr19:41731349-41732547	HCT-116	colon:	n/a	chr19:41732102-41732115 chr19:41732538-41732547 chr19:41732048-41732061 chr19:41732252-41732265 chr19:41732252-41732262
46	POLR2A	chr19:41731038-41732909	HUVEC	blood vessel:	n/a	n/a
47	ELF1	chr19:41731295-41732204	A549	lung:	n/a	chr19:41732177-41732186 chr19:41732064-41732073
48	SIN3AK20	chr19:41731135-41733273	A549	lung:	n/a	n/a
49	PBX3	chr19:41731112-41733271	A549	lung:	n/a	n/a
50	TCF7L2	chr19:41731578-41732632	Hela-S3	cervix:	n/a	chr19:41732095-41732104

No.	Distal block	Cell Line	Cell type
1	chr19:41729266..41732729-chr19:41766701..41770009,7	K562	blood:
2	chr19:41730123..41732315-chr19:41766672..41769413,2	K562	blood:
3	chr19:41725446..41729347-chr19:41729788..41733704,5	K562	blood:
4	chr19:41730545..41733193-chr19:41768273..41769945,2	MCF-7	breast:
5	chr19:41730267..41732320-chr19:41857985..41860743,2	MCF-7	breast:
6	chr19:41726271..41727956-chr19:41730948..41733143,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269652	TF binding region
AXL	TF binding region
ENSG00000142046	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000269652	Chromatin interaction
ENSG00000167601	Chromatin interaction
ENSG00000105329	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56343616	0.85[AFR][1000 genomes]
rs60842142	0.80[AFR][1000 genomes]
rs73931457	0.90[AFR][1000 genomes]
rs73931461	0.85[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41724400-41733200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:41726000-41733200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:41729200-41732000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
4	chr19:41729200-41732800	Transcr. at gene 5' and 3'	NHLF	lung
5	chr19:41729800-41732000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:41729800-41732000	Weak transcription	Aorta	Aorta
7	chr19:41730000-41732000	Weak transcription	Lung	lung
8	chr19:41730200-41762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr19:41730600-41732400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:41731000-41732800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:41731200-41732000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:41731200-41732000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:41731200-41732000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
14	chr19:41731200-41732000	Flanking Active TSS	HSMMtube	muscle
15	chr19:41731200-41732000	Flanking Active TSS	HUVEC	blood vessel
16	chr19:41731200-41732400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:41731200-41732400	Flanking Active TSS	HMEC	breast
18	chr19:41731200-41732600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr19:41731200-41732800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:41731200-41732800	Transcr. at gene 5' and 3'	NH-A	brain
21	chr19:41731200-41732800	Transcr. at gene 5' and 3'	NHEK	skin
22	chr19:41731200-41733000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:41731400-41732000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr19:41731400-41732000	Flanking Active TSS	Fetal Lung	lung
25	chr19:41731400-41732000	Enhancers	Placenta	Placenta
26	chr19:41731400-41732000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr19:41731400-41732000	Flanking Active TSS	HepG2	liver
28	chr19:41731400-41732400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr19:41731400-41732400	Bivalent Enhancer	Fetal Brain Male	brain
30	chr19:41731400-41732400	Enhancers	Fetal Heart	heart
31	chr19:41731400-41732800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr19:41731600-41732000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr19:41731600-41732000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr19:41731600-41732000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr19:41731600-41732000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr19:41731600-41732000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr19:41731600-41732000	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr19:41731600-41732000	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr19:41731600-41732000	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr19:41731600-41732000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:41731600-41732000	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr19:41731600-41732000	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr19:41731600-41732000	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr19:41731600-41732000	Flanking Active TSS	Fetal Stomach	stomach
45	chr19:41731600-41732000	Flanking Active TSS	Left Ventricle	heart
46	chr19:41731600-41732000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:41731600-41732000	Flanking Active TSS	K562	blood
48	chr19:41731600-41732400	Active TSS	H9 Cell Line	embryonic stem cell
49	chr19:41731600-41732400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:41731600-41732400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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