Variant report

Variant	rs58810051
Chromosome Location	chr2:86311099-86311100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86309842..86313098-chr2:86314384..86317204,4	K562	blood:
2	chr2:86307989..86312463-chr2:86330808..86334820,6	MCF-7	breast:
3	chr2:86299624..86302414-chr2:86309471..86311808,2	K562	blood:
4	chr2:86309301..86311140-chr2:86321915..86324113,2	K562	blood:
5	chr2:86309970..86313098-chr2:86314299..86317204,4	K562	blood:

Variant related genes	Relation type
ENSG00000132300	Chromatin interaction
ENSG00000068654	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10184159	0.87[ASN][1000 genomes]
rs17026904	0.87[ASN][1000 genomes]
rs2278532	0.87[ASN][1000 genomes]
rs2278533	0.87[ASN][1000 genomes]
rs2278534	0.87[ASN][1000 genomes]
rs2278535	0.87[ASN][1000 genomes]
rs2278537	0.84[ASN][1000 genomes]
rs2288116	0.87[ASN][1000 genomes]
rs3755005	0.84[ASN][1000 genomes]
rs3770076	0.87[ASN][1000 genomes]
rs3770083	0.87[ASN][1000 genomes]
rs3770084	0.87[ASN][1000 genomes]
rs3770085	0.87[ASN][1000 genomes]
rs3770086	0.84[ASN][1000 genomes]
rs3770088	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770091	0.84[ASN][1000 genomes]
rs3821019	0.87[ASN][1000 genomes]
rs57150140	0.87[ASN][1000 genomes]
rs58009603	0.87[ASN][1000 genomes]
rs58026145	0.87[ASN][1000 genomes]
rs58861315	0.87[ASN][1000 genomes]
rs58919291	0.87[ASN][1000 genomes]
rs59053280	0.87[ASN][1000 genomes]
rs60313984	1.00[EUR][1000 genomes]
rs60329449	0.84[ASN][1000 genomes]
rs61028280	1.00[EUR][1000 genomes]
rs61056382	0.84[ASN][1000 genomes]
rs61185790	0.87[ASN][1000 genomes]
rs61254540	0.87[ASN][1000 genomes]
rs6755228	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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 miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:86286000-86331000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:86286000-86331200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:86286200-86311200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:86290800-86314600	Strong transcription	HMEC	breast
8	chr2:86290800-86318600	Strong transcription	K562	blood
9	chr2:86290800-86322600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr2:86291000-86311200	Strong transcription	Fetal Brain Female	brain
11	chr2:86291600-86319000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:86291800-86311400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:86291800-86318800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:86292800-86331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:86295200-86323200	Strong transcription	Fetal Stomach	stomach
16	chr2:86296000-86322400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:86300000-86318200	Strong transcription	Placenta	Placenta
18	chr2:86300000-86323000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:86300000-86331800	Weak transcription	Stomach Mucosa	stomach
20	chr2:86301200-86318200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:86304600-86322400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:86304800-86313400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:86305400-86312400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:86306200-86327600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:86307600-86312800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:86307800-86322000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:86307800-86327600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:86307800-86331000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:86308000-86311400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:86308000-86313000	Weak transcription	Psoas Muscle	Psoas
31	chr2:86308000-86313400	Weak transcription	Fetal Kidney	kidney
32	chr2:86308000-86315600	Weak transcription	Colonic Mucosa	Colon
33	chr2:86308000-86319800	Strong transcription	Primary T cells from cord blood	blood
34	chr2:86308000-86320800	Weak transcription	Fetal Brain Male	brain
35	chr2:86308000-86328400	Strong transcription	Dnd41	blood
36	chr2:86308000-86330800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:86308200-86311200	Strong transcription	GM12878-XiMat	blood
38	chr2:86308200-86312200	Weak transcription	Thymus	Thymus
39	chr2:86308200-86312200	Weak transcription	Spleen	Spleen
40	chr2:86308200-86312400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:86308200-86312400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:86308200-86312400	Weak transcription	Gastric	stomach
43	chr2:86308200-86312400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:86308200-86312600	Weak transcription	Hela-S3	cervix
45	chr2:86308200-86312600	Weak transcription	HSMMtube	muscle
46	chr2:86308200-86313400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:86308200-86313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:86308200-86313400	Weak transcription	NHLF	lung
49	chr2:86308200-86313600	Weak transcription	Primary B cells from cord blood	blood
50	chr2:86308200-86313600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links