Variant report

Variant	rs59679338
Chromosome Location	chr12:48742822-48742823
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:48742770-48742847	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48721748..48724371-chr12:48742736..48744281,2	K562	blood:
2	chr12:48740296..48746434-chr12:48748194..48754526,9	MCF-7	breast:
3	chr12:48740907..48742946-chr12:48743021..48744777,2	K562	blood:
4	chr12:48741301..48746348-chr12:48747901..48753728,9	MCF-7	breast:
5	chr12:48737714..48740514-chr12:48742056..48744740,4	K562	blood:
6	chr12:48727374..48736715-chr12:48738720..48747602,13	K562	blood:
7	chr12:48590039..48593666-chr12:48742360..48744824,3	K562	blood:
8	chr12:48729486..48731368-chr12:48741575..48744157,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF641	TF binding region
ENSG00000257735	TF binding region
ENSG00000269514	Chromatin interaction
ENSG00000167528	Chromatin interaction
ENSG00000258273	Chromatin interaction
ENSG00000257763	Chromatin interaction
ENSG00000257735	Chromatin interaction
ENSG00000187166	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17123135	1.00[EUR][1000 genomes]
rs57022528	1.00[EUR][1000 genomes]
rs61227501	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv826362	chr12:48693048-48768853	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1045159	chr12:48730024-48748940	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48729200-48743400	Weak transcription	Stomach Mucosa	stomach
2	chr12:48731200-48743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:48733600-48743800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:48735000-48743000	Weak transcription	Fetal Heart	heart
5	chr12:48735200-48743600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:48735400-48743200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:48737400-48743400	Weak transcription	NHEK	skin
8	chr12:48737600-48743000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:48737600-48743400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:48737800-48743200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:48737800-48743200	Weak transcription	HepG2	liver
12	chr12:48737800-48743600	Weak transcription	HSMMtube	muscle
13	chr12:48738400-48743200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:48738600-48743800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:48739000-48743200	Weak transcription	Right Atrium	heart
16	chr12:48739000-48743600	Weak transcription	NH-A	brain
17	chr12:48739400-48743200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:48739600-48743200	Weak transcription	Fetal Brain Male	brain
19	chr12:48739600-48743200	Weak transcription	K562	blood
20	chr12:48739600-48743400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:48739600-48743400	Weak transcription	Small Intestine	intestine
22	chr12:48740600-48743200	Weak transcription	NHDF-Ad	bronchial
23	chr12:48741200-48743600	Weak transcription	NHLF	lung
24	chr12:48741400-48743000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:48741600-48743200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:48741600-48743200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:48741600-48743600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:48741600-48743600	Weak transcription	Brain Angular Gyrus	brain
29	chr12:48741600-48743800	Weak transcription	HSMM	muscle
30	chr12:48741800-48743000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:48741800-48743000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:48741800-48743000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:48741800-48743000	Weak transcription	Fetal Lung	lung
34	chr12:48741800-48743000	Weak transcription	Osteobl	bone
35	chr12:48741800-48743200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:48741800-48743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:48741800-48743200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:48741800-48743200	Weak transcription	Fetal Kidney	kidney
39	chr12:48741800-48743200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:48741800-48743200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:48741800-48743200	Weak transcription	Dnd41	blood
42	chr12:48741800-48743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:48741800-48743400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr12:48741800-48743400	Weak transcription	Brain Substantia Nigra	brain
45	chr12:48741800-48743400	Weak transcription	Fetal Brain Female	brain
46	chr12:48741800-48743400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:48741800-48743600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:48741800-48743600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:48741800-48743600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:48741800-48743600	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links