Variant report

Variant	rs73537681
Chromosome Location	chr19:39359533-39359534
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr19:39359130-39359707	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39358835..39360669-chr19:39419879..39421985,2	K562	blood:
2	chr19:39339409..39344372-chr19:39356868..39363816,11	MCF-7	breast:
3	chr19:39337733..39344793-chr19:39358054..39362711,15	MCF-7	breast:
4	chr19:39340592..39344706-chr19:39357882..39361932,6	K562	blood:
5	chr19:39321462..39323411-chr19:39359373..39361824,2	MCF-7	breast:
6	chr19:39358481..39361924-chr19:39367868..39369637,3	K562	blood:
7	chr19:39341886..39344706-chr19:39358962..39361932,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269050	TF binding region
ENSG00000104823	Chromatin interaction
ENSG00000128626	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000187994	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1001414	0.85[AMR][1000 genomes]
rs11083487	1.00[ASN][1000 genomes]
rs11883010	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12977453	1.00[ASN][1000 genomes]
rs13343573	1.00[ASN][1000 genomes]
rs17883664	1.00[ASN][1000 genomes]
rs2082436	1.00[ASN][1000 genomes]
rs28808414	1.00[ASN][1000 genomes]
rs28824318	1.00[ASN][1000 genomes]
rs28844707	1.00[ASN][1000 genomes]
rs45535036	1.00[ASN][1000 genomes]
rs58399999	1.00[EUR][1000 genomes]
rs59849895	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60311832	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61194027	1.00[ASN][1000 genomes]
rs61347610	1.00[ASN][1000 genomes]
rs6508826	1.00[ASN][1000 genomes]
rs6508827	1.00[ASN][1000 genomes]
rs73537683	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73537686	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8113749	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv911673	chr19:39335274-39365401	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39343600-39359800	Weak transcription	Small Intestine	intestine
2	chr19:39348600-39359600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:39349400-39359800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:39353400-39359600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr19:39353400-39363800	Weak transcription	HSMMtube	muscle
6	chr19:39353600-39359600	Weak transcription	Liver	Liver
7	chr19:39353600-39359600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr19:39353600-39359800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:39353600-39359800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:39353600-39359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:39353600-39359800	Weak transcription	Colonic Mucosa	Colon
12	chr19:39353600-39359800	Weak transcription	Fetal Lung	lung
13	chr19:39353600-39359800	Weak transcription	Lung	lung
14	chr19:39354000-39359600	Weak transcription	Right Atrium	heart
15	chr19:39354000-39359800	Weak transcription	Psoas Muscle	Psoas
16	chr19:39354000-39359800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:39354400-39359800	Weak transcription	Left Ventricle	heart
18	chr19:39355800-39359600	Weak transcription	Fetal Thymus	thymus
19	chr19:39356000-39359600	Weak transcription	Hela-S3	cervix
20	chr19:39356000-39359800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:39356200-39359600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr19:39356200-39359800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:39356200-39368000	Weak transcription	HepG2	liver
24	chr19:39356600-39359800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr19:39356800-39359600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:39356800-39359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:39356800-39359800	Weak transcription	HUVEC	blood vessel
28	chr19:39356800-39359800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr19:39356800-39359800	Weak transcription	NHEK	skin
30	chr19:39357000-39359800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr19:39357000-39359800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:39357000-39359800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:39357000-39359800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:39357000-39359800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:39357400-39359800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:39357800-39359600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr19:39357800-39359800	Strong transcription	Fetal Intestine Small	intestine
38	chr19:39358200-39359600	Weak transcription	Brain Angular Gyrus	brain
39	chr19:39358800-39359600	Enhancers	Placenta	Placenta
40	chr19:39358800-39359800	Enhancers	Fetal Muscle Trunk	muscle
41	chr19:39359000-39359600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr19:39359000-39359600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr19:39359000-39359800	Enhancers	Primary hematopoietic stem cells	blood
44	chr19:39359000-39359800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr19:39359000-39359800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:39359000-39359800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr19:39359000-39359800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:39359000-39359800	Strong transcription	Fetal Intestine Large	intestine
49	chr19:39359000-39359800	Weak transcription	NHLF	lung
50	chr19:39359000-39360000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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