Variant report

Variant	rs58291714
Chromosome Location	chr19:36382786-36382787
allele	C/T
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	POLR2A	chr19:36382606-36383307	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:36382654-36383254	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:36382653-36383254	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:36382783-36382957	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:36382783-36383121	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:36382733-36385610	GM12891	blood:	n/a	n/a
7	POLR2A	chr19:36382639-36383262	GM12891	blood:	n/a	n/a
8	POLR2A	chr19:36382706-36383055	HL-60	blood:	n/a	n/a
9	POLR2A	chr19:36382663-36383238	GM12892	blood:	n/a	n/a
10	POLR2A	chr19:36382770-36383169	GM12891	blood:	n/a	n/a
11	POLR2A	chr19:36382780-36383227	GM12891	blood:	n/a	n/a
12	POLR2A	chr19:36382741-36383250	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
NFKBID	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1057265	0.81[EUR][1000 genomes]
rs11084834	0.95[EUR][1000 genomes]
rs11878444	0.81[EUR][1000 genomes]
rs11880909	0.95[EUR][1000 genomes]
rs11881358	0.95[EUR][1000 genomes]
rs11881364	0.95[EUR][1000 genomes]
rs11881451	0.95[EUR][1000 genomes]
rs11882386	0.81[EUR][1000 genomes]
rs16970735	0.95[EUR][1000 genomes]
rs16970737	0.95[EUR][1000 genomes]
rs16970742	0.95[EUR][1000 genomes]
rs16970744	0.95[EUR][1000 genomes]
rs172985	0.95[EUR][1000 genomes]
rs2227909	0.95[EUR][1000 genomes]
rs2242590	0.81[EUR][1000 genomes]
rs230260	1.00[EUR][1000 genomes]
rs230261	0.95[EUR][1000 genomes]
rs230262	0.95[EUR][1000 genomes]
rs230263	0.95[EUR][1000 genomes]
rs230264	0.95[EUR][1000 genomes]
rs230265	0.95[EUR][1000 genomes]
rs230266	0.95[EUR][1000 genomes]
rs230267	0.95[EUR][1000 genomes]
rs230268	0.86[EUR][1000 genomes]
rs230269	0.95[EUR][1000 genomes]
rs2871778	0.95[EUR][1000 genomes]
rs34006827	0.95[EUR][1000 genomes]
rs35423326	0.95[EUR][1000 genomes]
rs376240	0.95[EUR][1000 genomes]
rs392702	0.81[EUR][1000 genomes]
rs393116	0.95[EUR][1000 genomes]
rs401824	0.89[EUR][1000 genomes]
rs404299	0.95[EUR][1000 genomes]
rs412175	0.82[EUR][1000 genomes]
rs417786	0.81[EUR][1000 genomes]
rs443186	0.95[EUR][1000 genomes]
rs447783	0.81[EUR][1000 genomes]
rs55797913	0.95[EUR][1000 genomes]
rs55816190	0.95[EUR][1000 genomes]
rs56264349	0.86[EUR][1000 genomes]
rs56922307	0.81[EUR][1000 genomes]
rs57053076	0.95[EUR][1000 genomes]
rs57068163	0.81[EUR][1000 genomes]
rs57094555	0.81[EUR][1000 genomes]
rs57516855	0.84[EUR][1000 genomes]
rs57668132	0.95[EUR][1000 genomes]
rs58098901	0.95[EUR][1000 genomes]
rs58109577	0.95[EUR][1000 genomes]
rs58161969	0.81[EUR][1000 genomes]
rs58504183	0.85[EUR][1000 genomes]
rs58551711	0.85[EUR][1000 genomes]
rs59123406	0.95[EUR][1000 genomes]
rs59399698	0.84[EUR][1000 genomes]
rs59478831	0.85[ASN][1000 genomes]
rs59534183	0.84[EUR][1000 genomes]
rs59658571	0.95[EUR][1000 genomes]
rs60073802	0.81[EUR][1000 genomes]
rs60268250	1.00[EUR][1000 genomes]
rs60576074	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60869994	1.00[EUR][1000 genomes]
rs60935148	0.85[EUR][1000 genomes]
rs61623584	0.95[EUR][1000 genomes]
rs61660311	0.81[EUR][1000 genomes]
rs619833	0.95[EUR][1000 genomes]
rs7251744	0.95[EUR][1000 genomes]
rs7253086	0.85[EUR][1000 genomes]
rs7256433	0.85[EUR][1000 genomes]
rs7258214	0.80[AMR][1000 genomes]
rs7258909	0.95[EUR][1000 genomes]
rs7260613	0.85[ASN][1000 genomes]
rs73599539	0.81[EUR][1000 genomes]
rs73599540	0.81[EUR][1000 genomes]
rs73599546	0.81[EUR][1000 genomes]
rs73599565	0.81[EUR][1000 genomes]
rs73599577	0.81[EUR][1000 genomes]
rs73599600	0.85[EUR][1000 genomes]
rs73599602	0.81[EUR][1000 genomes]
rs73928331	0.85[EUR][1000 genomes]
rs73928332	0.95[EUR][1000 genomes]
rs73928333	0.95[EUR][1000 genomes]
rs807660	0.95[EUR][1000 genomes]
rs8106732	0.95[EUR][1000 genomes]
rs8110868	0.81[EUR][1000 genomes]
rs8110926	0.95[EUR][1000 genomes]
rs8111209	0.95[EUR][1000 genomes]
rs8111348	0.95[EUR][1000 genomes]
rs879407	0.95[EUR][1000 genomes]
rs9749325	0.95[EUR][1000 genomes]
rs9749492	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36361000-36389000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:36361200-36389200	Weak transcription	Right Atrium	heart
3	chr19:36370600-36389000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:36370800-36389200	Weak transcription	HSMM	muscle
5	chr19:36370800-36389400	Weak transcription	HUVEC	blood vessel
6	chr19:36370800-36389400	Weak transcription	NH-A	brain
7	chr19:36373400-36389600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:36373600-36389200	Weak transcription	Fetal Brain Male	brain
9	chr19:36376200-36384000	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:36376200-36386600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:36376400-36386000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr19:36376400-36388400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:36376600-36383800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:36376600-36387800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:36377200-36386600	Weak transcription	HepG2	liver
16	chr19:36377400-36387000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr19:36377600-36387000	Strong transcription	Primary T cells from cord blood	blood
18	chr19:36377600-36388800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:36377600-36388800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:36377600-36389000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:36377600-36389000	Strong transcription	Fetal Stomach	stomach
22	chr19:36377600-36389400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:36377800-36386800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:36377800-36386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:36377800-36386800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:36377800-36386800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:36377800-36387000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr19:36377800-36387000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr19:36377800-36387600	Strong transcription	Fetal Thymus	thymus
30	chr19:36377800-36387800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:36377800-36387800	Strong transcription	Adipose Nuclei	Adipose
32	chr19:36377800-36388600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:36377800-36388600	Strong transcription	Spleen	Spleen
34	chr19:36377800-36389000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:36378000-36384000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:36378000-36385800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr19:36378000-36387200	Strong transcription	Thymus	Thymus
38	chr19:36378000-36388000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:36378000-36388000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:36378000-36388600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr19:36378200-36384200	Strong transcription	Fetal Intestine Large	intestine
42	chr19:36378200-36388400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr19:36378200-36388600	Strong transcription	Lung	lung
44	chr19:36378200-36388800	Strong transcription	Fetal Intestine Small	intestine
45	chr19:36378200-36389000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:36378200-36389200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:36378400-36386800	Strong transcription	GM12878-XiMat	blood
48	chr19:36378600-36386400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr19:36378600-36388800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:36378800-36383600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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