Variant report

Variant	rs2074435
Chromosome Location	chr19:36594659-36594660
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36543879..36547086-chr19:36593536..36595520,3	K562	blood:
2	chr19:36543879..36546093-chr19:36593536..36595520,2	K562	blood:
3	chr19:36593170..36595870-chr19:36606069..36608442,2	MCF-7	breast:
4	chr19:36593518..36595592-chr19:36602832..36605010,2	MCF-7	breast:
5	chr19:36590739..36592457-chr19:36592919..36595677,2	MCF-7	breast:
6	chr19:36594277..36596518-chr19:36598748..36601596,3	MCF-7	breast:
7	chr19:36593550..36596505-chr19:36596648..36599628,2	MCF-7	breast:
8	chr19:36587137..36590524-chr19:36591113..36595249,3	MCF-7	breast:
9	chr19:36593756..36597019-chr19:36598726..36601991,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OVOL3-1	chr19:36594394-36594818	NONHSAT065954

No data

Variant related genes	Relation type
ENSG00000105258	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000105261	Chromatin interaction
ENSG00000161277	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1009381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10406862	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs10418079	0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10419924	0.83[ASN][1000 genomes]
rs10420345	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10421377	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10422055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10425700	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs10427033	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10853945	0.84[EUR][1000 genomes]
rs11538454	0.85[ASN][1000 genomes]
rs11666192	0.89[ASN][1000 genomes]
rs11669890	0.92[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs11879369	0.85[EUR][1000 genomes]
rs12462159	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12608517	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs12971639	0.88[EUR][1000 genomes]
rs12971936	0.90[EUR][1000 genomes]
rs12972828	0.88[EUR][1000 genomes]
rs12981698	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12982375	0.84[EUR][1000 genomes]
rs1548506	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs2023866	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2051800	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs2075472	0.93[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2227260	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2231568	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2301734	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs2301737	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2871649	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs3810447	0.89[EUR][1000 genomes]
rs4555271	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs4806249	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap]
rs4806254	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap]
rs4806262	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4806269	0.82[EUR][1000 genomes]
rs4806271	0.84[ASN][1000 genomes]
rs4806273	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806276	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs55849299	0.83[ASN][1000 genomes]
rs7250364	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7251912	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7257026	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7258807	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs73036134	0.88[ASN][1000 genomes]
rs757223	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs8104047	0.91[EUR][1000 genomes]
rs8104053	0.85[EUR][1000 genomes]
rs8112640	0.81[ASN][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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2074435	POLR2I///RPSA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546600-36602200	Weak transcription	Colonic Mucosa	Colon
2	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr19:36546800-36601400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr19:36548200-36596400	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr19:36556000-36601600	Weak transcription	Pancreas	Pancrea
6	chr19:36561200-36597600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:36561200-36597600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr19:36561200-36597600	Strong transcription	Dnd41	blood
9	chr19:36561200-36598200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr19:36561200-36598400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:36561400-36596400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:36561400-36596600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr19:36568600-36598000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:36568800-36594800	Strong transcription	A549	lung
15	chr19:36568800-36601400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:36570000-36598000	Strong transcription	Fetal Thymus	thymus
17	chr19:36571600-36596600	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr19:36571800-36598400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:36571800-36600000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:36571800-36600600	Strong transcription	Fetal Stomach	stomach
21	chr19:36572000-36598000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:36572400-36602400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:36573800-36602400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:36574200-36602000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:36574600-36604400	Weak transcription	NHDF-Ad	bronchial
26	chr19:36575400-36604200	Weak transcription	Primary B cells from cord blood	blood
27	chr19:36580400-36594800	Weak transcription	Primary T cells from cord blood	blood
28	chr19:36583400-36598000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:36585000-36595000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:36585000-36598200	Strong transcription	Thymus	Thymus
31	chr19:36585000-36601600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr19:36585000-36602400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:36585200-36594800	Weak transcription	Osteobl	bone
34	chr19:36585200-36604400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr19:36586600-36594800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:36587400-36598600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:36587600-36598800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:36588200-36598600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:36588400-36594800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr19:36588400-36595000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:36588400-36598600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:36588400-36604800	Weak transcription	NH-A	brain
43	chr19:36589400-36597200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:36589600-36596400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:36589600-36596600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr19:36590000-36596400	Strong transcription	NHLF	lung
47	chr19:36590200-36594800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:36590200-36595200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:36590200-36595400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:36590200-36596400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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