Variant report

Variant	rs73529583
Chromosome Location	chr19:18683144-18683145
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	SIN3AK20	chr19:18682124-18683280	K562	blood:	n/a	n/a
2	POLR2A	chr19:18681493-18689919	HepG2	liver:	n/a	n/a
3	MAZ	chr19:18682141-18683379	IMR90	lung:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
4	MAX	chr19:18682069-18683203	ECC-1	luminal epithelium:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
5	E2F6	chr19:18682050-18683157	H1-hESC	embryonic stem cell:	n/a	chr19:18682942-18682954 chr19:18682479-18682488 chr19:18682621-18682630
6	SIN3AK20	chr19:18681557-18683160	HCT-116	colon:	n/a	n/a
7	POLR2A	chr19:18682149-18683148	K562	blood:	n/a	n/a
8	MAX	chr19:18681950-18683227	HCT-116	colon:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
9	POLR2A	chr19:18681679-18684916	K562	blood:	n/a	n/a
10	MAX	chr19:18682085-18683190	A549	lung:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
11	POLR2A	chr19:18681529-18684361	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr19:18682214-18684490	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:18682140-18683155	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr19:18682082-18683217	MCF10A-Er-Src	breast:	n/a	n/a
15	GABPA	chr19:18681960-18683225	MCF-7	breast:	n/a	chr19:18682620-18682629 chr19:18682617-18682631 chr19:18682479-18682488 chr19:18682620-18682631
16	TAF1	chr19:18682073-18683172	H1-hESC	embryonic stem cell:	n/a	n/a
17	NFIC	chr19:18682096-18683162	GM12878	blood:	n/a	n/a
18	HEY1	chr19:18682124-18684557	K562	blood:	n/a	n/a
19	MAX	chr19:18682146-18683152	A549	lung:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
20	CREB1	chr19:18682066-18683247	K562	blood:	n/a	n/a
21	CTCF	chr19:18683080-18683230	HCFaa	heart:	n/a	n/a
22	REST	chr19:18681951-18683212	H1-neurons	neurons:	n/a	chr19:18682207-18682227 chr19:18682207-18682227 chr19:18682210-18682223 chr19:18682219-18682228 chr19:18682208-18682226
23	CTCF	chr19:18683140-18683290	AG09319	gingival:	n/a	n/a
24	PML	chr19:18681959-18683158	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:18682121-18683189	HL-60	blood:	n/a	n/a
26	POLR2A	chr19:18681665-18684916	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr19:18682044-18684587	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr19:18682130-18683185	GM12891	blood:	n/a	n/a
29	POLR2A	chr19:18682123-18684768	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:18682206-18684305	IMR90	lung:	n/a	n/a
31	WRNIP1	chr19:18682911-18683833	GM12878	blood:	n/a	n/a
32	MXI1	chr19:18681959-18684218	IMR90	lung:	n/a	chr19:18682519-18682528
33	POLR2A	chr19:18682090-18683182	GM12891	blood:	n/a	n/a
34	HA-E2F1	chr19:18681975-18683190	MCF-7	breast:	n/a	chr19:18682942-18682954 chr19:18682479-18682488 chr19:18682621-18682630
35	POLR2A	chr19:18682114-18684802	K562	blood:	n/a	n/a
36	POLR2A	chr19:18682079-18683435	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr19:18682049-18683191	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr19:18682223-18683233	GM12892	blood:	n/a	n/a
39	GABPA	chr19:18682132-18683157	SK-N-SH	brain:	n/a	chr19:18682620-18682629 chr19:18682617-18682631 chr19:18682479-18682488 chr19:18682620-18682631
40	MAX	chr19:18682069-18683200	ECC-1	luminal epithelium:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
41	HEY1	chr19:18682177-18683183	K562	blood:	n/a	n/a
42	CTCF	chr19:18683100-18683250	HCPEpiC	choroid plexus:	n/a	n/a
43	POLR2A	chr19:18681589-18684803	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr19:18682087-18683247	HCT-116	colon:	n/a	n/a
45	MAX	chr19:18682002-18683182	K562	blood:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
46	MTA3	chr19:18682037-18683612	GM12878	blood:	n/a	n/a
47	MAX	chr19:18682100-18683222	HepG2	liver:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
48	JUN	chr19:18682041-18683289	K562	blood:	n/a	chr19:18682478-18682487
49	POLR2A	chr19:18682135-18683873	HUVEC	blood vessel:	n/a	n/a
50	HCFC1	chr19:18682134-18684243	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18631257..18635225-chr19:18680941..18684038,5	MCF-7	breast:
2	chr19:18629832..18635572-chr19:18680910..18686315,11	K562	blood:
3	chr19:18548448..18551673-chr19:18681148..18684161,3	K562	blood:
4	chr19:18682401..18684687-chr19:18702171..18705609,4	MCF-7	breast:
5	chr19:18666965..18674770-chr19:18676405..18685095,25	K562	blood:
6	chr19:18678376..18688390-chr19:18697032..18707656,34	K562	blood:
7	chr19:18671310..18673503-chr19:18682435..18684299,2	MCF-7	breast:
8	chr19:18682727..18684348-chr19:18724724..18727000,2	MCF-7	breast:
9	chr19:18651498..18655648-chr19:18680777..18683781,5	MCF-7	breast:
10	chr19:18586402..18589298-chr19:18680966..18684505,3	K562	blood:
11	chr19:18653470..18656783-chr19:18680897..18684291,6	K562	blood:
12	chr19:18682067..18684109-chr19:19302288..19304450,2	K562	blood:
13	chr19:18681104..18684544-chr19:18745683..18749906,4	K562	blood:
14	chr19:18667097..18671007-chr19:18677068..18684435,17	K562	blood:
15	chr19:18666812..18670172-chr19:18680715..18684041,6	MCF-7	breast:
16	chr19:18682660..18683172-chr21:35445518..35446064,2	HCT-116	colon:
17	chr19:18628801..18634367-chr19:18680492..18684131,12	MCF-7	breast:
18	chr19:18629832..18634516-chr19:18680910..18685097,11	K562	blood:
19	chr19:18682649..18683371-chr3:143690264..143691172,2	Hela-S3	cervix:
20	chr19:18681312..18685117-chr19:18698049..18701447,5	MCF-7	breast:
21	chr19:18651038..18656783-chr19:18680897..18685521,14	K562	blood:

Variant related genes	Relation type
UBA52	TF binding region
ENSG00000268983	TF binding region
ENSG00000006015	Chromatin interaction
ENSG00000198743	Chromatin interaction
ENSG00000105696	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000268030	Chromatin interaction
ENSG00000272657	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000006016	Chromatin interaction
ENSG00000181744	Chromatin interaction
ENSG00000105701	Chromatin interaction
ENSG00000167487	Chromatin interaction
ENSG00000243927	Chromatin interaction
ENSG00000105700	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58017848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529545	1.00[AMR][1000 genomes]
rs73529573	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529577	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529579	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529580	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529585	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529590	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv911284	chr19:18643036-18684216	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr19:18681800-18683200	Active TSS	Colonic Mucosa	Colon
2	chr19:18681800-18683200	Active TSS	Stomach Smooth Muscle	stomach
3	chr19:18681800-18683400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:18681800-18683400	Active TSS	Fetal Intestine Large	intestine
5	chr19:18681800-18683600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:18681800-18683600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:18681800-18683600	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr19:18681800-18683600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:18682000-18683200	Active TSS	Primary T cells from cord blood	blood
10	chr19:18682000-18683200	Active TSS	Brain Anterior Caudate	brain
11	chr19:18682000-18683200	Active TSS	Brain Cingulate Gyrus	brain
12	chr19:18682000-18683200	Active TSS	Brain Germinal Matrix	brain
13	chr19:18682000-18683200	Active TSS	Brain Hippocampus Middle	brain
14	chr19:18682000-18683200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr19:18682000-18683200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:18682000-18683200	Active TSS	Brain Substantia Nigra	brain
17	chr19:18682000-18683200	Active TSS	Colon Smooth Muscle	Colon
18	chr19:18682000-18683200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr19:18682000-18683200	Active TSS	Fetal Brain Male	brain
20	chr19:18682000-18683200	Active TSS	Fetal Stomach	stomach
21	chr19:18682000-18683200	Active TSS	Pancreas	Pancrea
22	chr19:18682000-18683200	Active TSS	Rectal Smooth Muscle	rectum
23	chr19:18682000-18683400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:18682000-18683400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:18682000-18683400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:18682000-18683400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:18682000-18683400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:18682000-18683400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr19:18682000-18683400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:18682000-18683400	Active TSS	Fetal Brain Female	brain
31	chr19:18682000-18683400	Active TSS	Fetal Kidney	kidney
32	chr19:18682000-18683400	Active TSS	Fetal Lung	lung
33	chr19:18682000-18683400	Active TSS	Left Ventricle	heart
34	chr19:18682000-18683400	Active TSS	Right Atrium	heart
35	chr19:18682000-18683400	Active TSS	Right Ventricle	heart
36	chr19:18682000-18683400	Active TSS	NHDF-Ad	bronchial
37	chr19:18682000-18683600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr19:18682000-18683600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr19:18682000-18683600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:18682000-18683600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr19:18682000-18683600	Active TSS	Muscle Satellite Cultured Cells	--
42	chr19:18682000-18683600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:18682000-18683600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:18682000-18683600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:18682000-18683600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr19:18682000-18683600	Active TSS	Psoas Muscle	Psoas
47	chr19:18682000-18683600	Active TSS	Stomach Mucosa	stomach
48	chr19:18682000-18683600	Active TSS	A549	lung
49	chr19:18682000-18683600	Active TSS	GM12878-XiMat	blood
50	chr19:18682000-18683600	Active TSS	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links