Variant report

Variant	rs4760329
Chromosome Location	chr12:58211875-58211876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:58211357-58212166	K562	blood:	n/a	n/a
2	POLR2A	chr12:58209018-58213250	U87	brain:	n/a	n/a
3	POLR2A	chr12:58210243-58213716	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr12:58211455-58213256	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr12:58211750-58211908	MCF-7	breast:	n/a	n/a
6	POLR2A	chr12:58208913-58213206	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr12:58210383-58213192	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:58209632-58221838	K562	blood:	n/a	n/a
9	POLR2A	chr12:58211299-58213170	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr12:58210475-58211895	U87	brain:	n/a	n/a
11	POLR2A	chr12:58211229-58212090	HepG2	liver:	n/a	n/a
12	FOSL2	chr12:58210992-58213277	HepG2	liver:	n/a	chr12:58212588-58212597
13	ZNF384	chr12:58211767-58212059	K562	blood:	n/a	n/a
14	POLR2A	chr12:58211004-58213048	PANC-1	pancreas:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58209482..58212402-chr12:58215450..58219043,3	MCF-7	breast:
2	chr12:58211567..58213701-chr12:58218722..58220729,2	MCF-7	breast:
3	chr12:58206978..58209497-chr12:58211355..58214120,3	K562	blood:
4	chr12:58210744..58213175-chr12:58220586..58222111,2	MCF-7	breast:
5	chr12:58165725..58168554-chr12:58208746..58212137,3	MCF-7	breast:

No data

Variant related genes	Relation type
AVIL	TF binding region
ENSG00000135407	Chromatin interaction
ENSG00000207789	Chromatin interaction
ENSG00000269903	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000266465	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs3211607	1.00[AMR][1000 genomes]
rs3211614	1.00[AMR][1000 genomes]
rs3211618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3211627	1.00[AMR][1000 genomes]
rs4016098	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760321	1.00[ASN][1000 genomes]
rs4760322	1.00[AMR][1000 genomes]
rs4760323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760338	1.00[AMR][1000 genomes]
rs7307835	1.00[ASN][1000 genomes]
rs73338229	1.00[EUR][1000 genomes]
rs73338231	1.00[EUR][1000 genomes]
rs73338254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176339	1.00[AMR][1000 genomes]
rs8176344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 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	chr12:58177400-58216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:58181400-58216000	Weak transcription	Fetal Brain Male	brain
3	chr12:58187000-58216600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:58187200-58215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:58190200-58216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:58190800-58215200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:58190800-58216200	Weak transcription	HUVEC	blood vessel
8	chr12:58191000-58216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:58191200-58213600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:58191200-58216200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:58192200-58216200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:58193200-58215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:58193400-58216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:58194200-58215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:58197200-58216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:58198400-58215000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:58200800-58212600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:58201200-58215000	Weak transcription	Fetal Kidney	kidney
19	chr12:58202400-58214800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:58202400-58215000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:58202400-58215200	Weak transcription	GM12878-XiMat	blood
22	chr12:58202600-58214400	Weak transcription	Dnd41	blood
23	chr12:58203200-58213600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:58203400-58216600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:58203800-58212000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:58203800-58214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:58204200-58214000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:58204200-58216400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:58204600-58214800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:58204800-58212400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:58204800-58216200	Weak transcription	NHEK	skin
32	chr12:58205000-58212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:58205000-58213200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:58205000-58213400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:58205000-58216600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:58205000-58216600	Weak transcription	Hela-S3	cervix
37	chr12:58205200-58212200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:58205200-58213400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:58205200-58213400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:58205200-58214200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:58205400-58212200	Weak transcription	Brain Germinal Matrix	brain
42	chr12:58205400-58212400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:58205400-58213400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:58207200-58212200	Weak transcription	Primary B cells from cord blood	blood
45	chr12:58207200-58212400	Weak transcription	NH-A	brain
46	chr12:58207400-58214400	Weak transcription	Primary T cells from cord blood	blood
47	chr12:58207400-58215000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:58207800-58213200	Enhancers	Right Atrium	heart
49	chr12:58207800-58222800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:58208000-58213000	Enhancers	Left Ventricle	heart

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