Variant report

Variant	rs73935026
Chromosome Location	chr19:52707260-52707261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52706355..52708288-chr19:52712635..52714829,2	K562	blood:
2	chr19:52696376..52697910-chr19:52705530..52707663,2	MCF-7	breast:
3	chr19:52692900..52696088-chr19:52702014..52707428,7	MCF-7	breast:
4	chr19:52707197..52709846-chr19:52723808..52726393,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105568	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1025279	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405293	0.86[EUR][1000 genomes]
rs10405856	0.83[EUR][1000 genomes]
rs10405862	0.86[EUR][1000 genomes]
rs10407987	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10413274	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10413470	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10413847	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10416195	0.85[EUR][1000 genomes]
rs10422583	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423610	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423794	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424348	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10425393	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10426066	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13344984	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16983548	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16983549	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16983557	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984750	0.86[EUR][1000 genomes]
rs61435553	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253157	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73937434	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8101364	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103874	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107377	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 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	chr19:52694400-52710200	ZNF genes & repeats	A549	lung
2	chr19:52694600-52732800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:52695200-52708400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:52695200-52711200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:52695400-52707600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:52695400-52732200	Strong transcription	Fetal Lung	lung
7	chr19:52695400-52733200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr19:52695600-52717400	Strong transcription	Primary hematopoietic stem cells	blood
9	chr19:52696000-52710800	Strong transcription	Thymus	Thymus
10	chr19:52696000-52723000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr19:52696000-52732200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr19:52696000-52732400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:52696000-52733000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:52696200-52729200	Strong transcription	Fetal Intestine Large	intestine
15	chr19:52696200-52732400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:52696200-52732400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:52696200-52732400	Strong transcription	Primary B cells from cord blood	blood
18	chr19:52697600-52732400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:52697600-52733200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:52697800-52732200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:52697800-52732400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:52697800-52732400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr19:52697800-52732600	Strong transcription	Primary T cells from cord blood	blood
24	chr19:52697800-52733000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:52698000-52730400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:52698000-52732200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr19:52698000-52732200	Strong transcription	Dnd41	blood
28	chr19:52698200-52714400	Weak transcription	Stomach Mucosa	stomach
29	chr19:52698200-52732000	Strong transcription	GM12878-XiMat	blood
30	chr19:52698200-52732400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:52698200-52732400	Strong transcription	HepG2	liver
32	chr19:52698200-52732600	Strong transcription	Fetal Brain Female	brain
33	chr19:52698400-52732400	Strong transcription	Fetal Thymus	thymus
34	chr19:52698600-52732000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:52698800-52732400	Strong transcription	Liver	Liver
36	chr19:52700200-52712600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:52700800-52732200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr19:52702200-52731800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr19:52702200-52732200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr19:52702600-52732200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:52703000-52731600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:52703000-52732600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:52703000-52734600	Strong transcription	Fetal Stomach	stomach
44	chr19:52703200-52709000	Strong transcription	Hela-S3	cervix
45	chr19:52703200-52711000	Strong transcription	Fetal Kidney	kidney
46	chr19:52703200-52711200	Strong transcription	K562	blood
47	chr19:52703200-52714400	Strong transcription	Placenta	Placenta
48	chr19:52703200-52731200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:52703200-52732200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:52703200-52732400	Strong transcription	H9 Cell Line	embryonic stem cell

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