Variant report

Variant	rs73586820
Chromosome Location	chr19:51297387-51297388
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51294162-51303858	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr19:51296723-51300831	A549	lung:	n/a	chr19:51296878-51296891 chr19:51299623-51299631
3	POLR2A	chr19:51296363-51305119	HepG2	liver:	n/a	n/a
4	ATF2	chr19:51297146-51300313	GM12878	blood:	n/a	n/a
5	CHD2	chr19:51296875-51300537	K562	blood:	n/a	n/a
6	POLR2A	chr19:51296864-51303007	K562	blood:	n/a	n/a
7	MAFK	chr19:51297150-51298738	Hela-S3	cervix:	n/a	n/a
8	NFIC	chr19:51297069-51299908	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:51292846-51302413	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr19:51296691-51300705	GM19099	blood:	n/a	n/a
11	POLR2A	chr19:51294069-51301549	U87	brain:	n/a	n/a
12	POLR2A	chr19:51294148-51303725	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:51296692-51299975	U87	brain:	n/a	n/a
14	POLR2A	chr19:51295539-51303742	GM12891	blood:	n/a	n/a
15	ZNF263	chr19:51296948-51300470	HEK293-T-REx	kidney:	n/a	chr19:51298009-51298018
16	POLR2A	chr19:51294090-51301585	U87	brain:	n/a	n/a
17	POLR2A	chr19:51296564-51303843	HL-60	blood:	n/a	n/a
18	POLR2A	chr19:51293982-51303950	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:51296918-51304711	K562	blood:	n/a	n/a
20	POLR2A	chr19:51296661-51302056	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:51292818-51303789	GM12891	blood:	n/a	n/a
22	TCF12	chr19:51296667-51300851	A549	lung:	n/a	n/a
23	RUNX3	chr19:51297081-51297433	GM12878	blood:	n/a	n/a
24	PBX3	chr19:51296673-51300403	A549	lung:	n/a	n/a
25	TCF12	chr19:51297383-51298955	ECC-1	luminal epithelium:	n/a	n/a
26	GTF2F1	chr19:51297127-51299882	Hela-S3	cervix:	n/a	n/a
27	JUND	chr19:51297224-51297941	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr19:51296986-51297493	SK-N-SH	brain:	n/a	n/a
29	BCL3	chr19:51297002-51297411	GM12878	blood:	n/a	n/a
30	POU2F2	chr19:51296090-51300827	GM12891	blood:	n/a	chr19:51297417-51297438 chr19:51299707-51299719
31	SIN3AK20	chr19:51297321-51300159	A549	lung:	n/a	n/a
32	POLR2A	chr19:51296807-51297389	HepG2	liver:	n/a	n/a
33	PML	chr19:51296721-51300474	K562	blood:	n/a	n/a
34	POLR2A	chr19:51296584-51300695	GM12878	blood:	n/a	n/a
35	BRCA1	chr19:51296958-51298802	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr19:51296672-51301538	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr19:51292766-51304914	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr19:51296785-51303813	GM18951	blood:	n/a	n/a
39	RFX5	chr19:51297134-51299138	Hela-S3	cervix:	n/a	n/a
40	POU2F2	chr19:51296727-51300495	GM12891	blood:	n/a	chr19:51297417-51297438 chr19:51299707-51299719
41	POLR2A	chr19:51295423-51303985	K562	blood:	n/a	n/a
42	MTA3	chr19:51296627-51299787	GM12878	blood:	n/a	n/a
43	REST	chr19:51297182-51299541	A549	lung:	n/a	n/a
44	POLR2A	chr19:51293608-51303838	GM12892	blood:	n/a	n/a
45	ZBTB33	chr19:51297334-51299766	A549	lung:	n/a	n/a
46	PML	chr19:51296509-51300609	GM12878	blood:	n/a	chr19:51300599-51300607
47	POLR2A	chr19:51292681-51303883	GM12891	blood:	n/a	n/a
48	BCL3	chr19:51296816-51297418	GM12878	blood:	n/a	chr19:51296878-51296891
49	PML	chr19:51297110-51297491	GM12878	blood:	n/a	n/a
50	POLR2A	chr19:51293489-51300654	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51172710..51173605-chr19:51297366..51298079,2	MCF-7	breast:
2	chr19:51295777..51298371-chr5:133339070..133341774,2	MCF-7	breast:
3	chr19:51297069..51301557-chr19:51353006..51355248,4	K562	blood:
4	chr19:51293560..51298277-chr19:51413419..51418761,7	K562	blood:
5	chr19:51297217..51300572-chr19:51389305..51392408,3	MCF-7	breast:
6	chr19:51296429..51299323-chr19:51371370..51374659,5	K562	blood:
7	chr17:62207141..62207676-chr19:51296887..51297814,2	HCT-116	colon:
8	chr19:51296075..51301998-chr19:51356744..51362542,6	K562	blood:
9	chr19:51105210..51106764-chr19:51296992..51298664,2	K562	blood:
10	chr19:51297209..51301271-chr19:51337976..51342137,10	K562	blood:
11	chr19:51207455..51209701-chr19:51296263..51298998,3	K562	blood:
12	chr19:51287157..51292690-chr19:51292694..51297699,7	MCF-7	breast:
13	chr19:51210355..51211982-chr19:51296996..51299615,2	K562	blood:
14	chr19:51160675..51165510-chr19:51297124..51300859,8	K562	blood:
15	chr19:51297152..51303261-chr19:51371696..51377038,8	K562	blood:
16	chr19:51226381..51234126-chr19:51290973..51302468,19	K562	blood:
17	chr19:51297173..51300001-chr19:51396139..51397785,2	MCF-7	breast:
18	chr19:51297115..51298679-chr19:51410981..51413037,2	K562	blood:
19	chr19:51295821..51300740-chr19:51378160..51386074,8	K562	blood:
20	chr19:51297375..51300335-chr19:51393395..51395432,2	MCF-7	breast:
21	chr19:51295821..51300740-chr19:51378160..51386074,7	K562	blood:
22	chr19:51191963..51194196-chr19:51295538..51298347,2	K562	blood:
23	chr19:51206207..51210755-chr19:51296263..51301273,7	K562	blood:
24	chr19:51226381..51234126-chr19:51290973..51298243,11	K562	blood:
25	chr19:51297092..51299196-chr19:51400128..51402648,2	K562	blood:
26	chr19:51297246..51301277-chr19:51424078..51428279,6	K562	blood:
27	chr19:51225708..51229784-chr19:51294422..51298363,4	MCF-7	breast:
28	chr1:51984448..51984999-chr19:51296761..51297730,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000268375	TF binding region
ENSG00000271737	Chromatin interaction
ENSG00000161681	Chromatin interaction
ENSG00000142515	Chromatin interaction
ENSG00000235034	Chromatin interaction
ENSG00000167749	Chromatin interaction
ENSG00000197588	Chromatin interaction
ENSG00000085832	Chromatin interaction
ENSG00000174562	Chromatin interaction
ENSG00000178607	Chromatin interaction
ENSG00000261341	Chromatin interaction
ENSG00000167751	Chromatin interaction
ENSG00000213585	Chromatin interaction
ENSG00000105472	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10405938	1.00[AFR][1000 genomes]
rs10416051	1.00[AFR][1000 genomes]
rs10416096	1.00[AFR][1000 genomes]
rs10417989	0.90[AFR][1000 genomes]
rs10420205	1.00[AFR][1000 genomes]
rs28722127	0.90[AFR][1000 genomes]
rs3212827	1.00[AFR][1000 genomes]
rs3212832	1.00[AFR][1000 genomes]
rs59340026	0.90[AFR][1000 genomes]
rs73586821	1.00[AFR][1000 genomes]
rs73586825	1.00[AFR][1000 genomes]
rs73586828	1.00[AFR][1000 genomes]
rs73586834	1.00[AFR][1000 genomes]
rs73586837	0.90[AFR][1000 genomes]
rs73586853	1.00[AFR][1000 genomes]
rs73586855	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51287000-51298400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:51287000-51298400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:51287200-51301200	Weak transcription	Primary B cells from cord blood	blood
4	chr19:51287400-51300000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:51289800-51298600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:51290000-51298800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:51291800-51303400	Weak transcription	Fetal Kidney	kidney
8	chr19:51293200-51297800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:51293400-51300000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:51295600-51301000	Weak transcription	HepG2	liver
11	chr19:51295800-51299200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:51296000-51299000	Weak transcription	Dnd41	blood
13	chr19:51296000-51300200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:51296000-51300400	Weak transcription	Fetal Lung	lung
15	chr19:51296200-51298600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:51296400-51297400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:51296400-51298200	Weak transcription	Brain Germinal Matrix	brain
18	chr19:51296400-51298400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:51296400-51300600	Weak transcription	Brain Angular Gyrus	brain
20	chr19:51296600-51298600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:51296600-51298600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:51296600-51304200	Weak transcription	HSMM	muscle
23	chr19:51296800-51298000	Enhancers	Fetal Intestine Small	intestine
24	chr19:51296800-51298200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr19:51296800-51299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:51297000-51297400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr19:51297000-51298400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:51297000-51298600	Enhancers	Spleen	Spleen
29	chr19:51297000-51300000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:51297000-51301000	Weak transcription	HSMMtube	muscle
31	chr19:51297000-51306200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:51297200-51297400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr19:51297200-51297800	Enhancers	K562	blood
34	chr19:51297200-51298000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:51297200-51298000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:51297200-51298200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr19:51297200-51298400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:51297200-51298400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:51297200-51298600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:51297200-51299000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:51297200-51299000	Weak transcription	Liver	Liver
42	chr19:51297200-51299600	Weak transcription	Lung	lung
43	chr19:51297200-51299800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:51297200-51300000	Strong transcription	Right Atrium	heart
45	chr19:51297200-51300400	Weak transcription	Brain Anterior Caudate	brain

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