Variant report

Variant	rs73410841
Chromosome Location	chr12:120525610-120525611
allele	A/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	SIN3AK20	chr12:120524426-120525656	MCF-7	breast:	n/a	n/a
2	RCOR1	chr12:120524425-120525756	IMR90	lung:	n/a	n/a
3	CTCF	chr12:120525460-120525610	A549	lung:	n/a	n/a
4	MAX	chr12:120524505-120525631	ECC-1	luminal epithelium:	n/a	chr12:120525082-120525092 chr12:120524949-120524958 chr12:120524693-120524703 chr12:120524726-120524736 chr12:120524693-120524702
5	REST	chr12:120524467-120525719	A549	lung:	n/a	chr12:120525079-120525092
6	CTCF	chr12:120523666-120525735	A549	lung:	n/a	chr12:120524862-120524880 chr12:120524864-120524877 chr12:120524864-120524877 chr12:120525324-120525337 chr12:120524863-120524879
7	REST	chr12:120524514-120525828	H1-neurons	neurons:	n/a	chr12:120525079-120525092
8	TCF12	chr12:120524393-120525629	A549	lung:	n/a	n/a
9	MXI1	chr12:120524312-120525815	SK-N-SH	brain:	n/a	chr12:120524943-120524958
10	MAX	chr12:120524430-120525649	A549	lung:	n/a	chr12:120525082-120525092 chr12:120524949-120524958 chr12:120524693-120524703 chr12:120524726-120524736 chr12:120524693-120524702
11	MXI1	chr12:120524418-120525638	IMR90	lung:	n/a	chr12:120524943-120524958
12	RAD21	chr12:120524361-120525654	SK-N-SH	brain:	n/a	chr12:120525323-120525336 chr12:120524862-120524874 chr12:120524688-120524702 chr12:120524860-120524879 chr12:120525324-120525338
13	MAX	chr12:120524560-120525646	ECC-1	luminal epithelium:	n/a	chr12:120525082-120525092 chr12:120524949-120524958 chr12:120524693-120524703 chr12:120524726-120524736 chr12:120524693-120524702
14	MTA3	chr12:120524487-120525637	GM12878	blood:	n/a	n/a
15	RFX5	chr12:120524326-120525744	SK-N-SH	brain:	n/a	chr12:120524947-120524961 chr12:120524944-120524959 chr12:120524944-120524959 chr12:120524946-120524961 chr12:120524949-120524958 chr12:120524944-120524959

No.	Distal block	Cell Line	Cell type
1	chr12:120524872..120526862-chr12:120728352..120730035,2	K562	blood:
2	chr12:120523806..120527797-chr12:120636547..120640278,4	K562	blood:
3	chr12:120522807..120526781-chr12:120552984..120555977,5	MCF-7	breast:
4	chr12:120524977..120526839-chr12:120528697..120530517,2	MCF-7	breast:
5	chr12:120426345..120430179-chr12:120522366..120526124,6	MCF-7	breast:
6	chr12:120524817..120526955-chr12:120527909..120530871,2	K562	blood:
7	chr12:120502289..120504237-chr12:120523467..120526114,3	MCF-7	breast:
8	chr12:120425138..120431100-chr12:120522252..120526480,6	MCF-7	breast:
9	chr12:120525354..120527511-chr12:120632416..120635018,2	MCF-7	breast:
10	chr12:120104543..120107131-chr12:120523519..120526303,2	K562	blood:
11	chr12:120522735..120525949-chr12:120728856..120731455,3	MCF-7	breast:
12	chr12:120516392..120519629-chr12:120522299..120526029,10	MCF-7	breast:
13	chr12:120523567..120526136-chr12:120728252..120731056,2	MCF-7	breast:
14	chr12:120524045..120526996-chr12:120539011..120541039,3	MCF-7	breast:

Variant related genes	Relation type
CCDC64	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000111725	Chromatin interaction
ENSG00000248636	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000255857	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1151821	1.00[EUR][1000 genomes]
rs1166789	1.00[EUR][1000 genomes]
rs1632619	1.00[EUR][1000 genomes]
rs56836390	1.00[EUR][1000 genomes]
rs58682372	1.00[EUR][1000 genomes]
rs59470045	1.00[EUR][1000 genomes]
rs59643776	1.00[EUR][1000 genomes]
rs60175203	1.00[EUR][1000 genomes]
rs7139220	1.00[EUR][1000 genomes]
rs7300790	1.00[EUR][1000 genomes]
rs73404500	1.00[EUR][1000 genomes]
rs73406722	1.00[EUR][1000 genomes]
rs73406751	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410812	1.00[EUR][1000 genomes]
rs73410821	1.00[EUR][1000 genomes]
rs7980464	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120518200-120528600	Weak transcription	Gastric	stomach
2	chr12:120524400-120525800	Enhancers	Fetal Heart	heart
3	chr12:120524800-120531000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:120525000-120530400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:120525200-120525800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr12:120525200-120525800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr12:120525200-120525800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr12:120525200-120525800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr12:120525200-120525800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr12:120525200-120525800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:120525200-120525800	Flanking Active TSS	A549	lung
12	chr12:120525200-120526000	Flanking Active TSS	GM12878-XiMat	blood
13	chr12:120525400-120525800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr12:120525400-120525800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:120525400-120525800	Enhancers	Fetal Thymus	thymus
16	chr12:120525400-120525800	Enhancers	HMEC	breast
17	chr12:120525400-120526000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:120525400-120527200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:120525400-120527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:120525400-120527800	Weak transcription	Spleen	Spleen
21	chr12:120525400-120528200	Weak transcription	Psoas Muscle	Psoas
22	chr12:120525400-120528400	Weak transcription	Esophagus	oesophagus
23	chr12:120525400-120528800	Weak transcription	Lung	lung
24	chr12:120525400-120529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:120525400-120529800	Weak transcription	Fetal Intestine Large	intestine
26	chr12:120525400-120530200	Weak transcription	Left Ventricle	heart
27	chr12:120525400-120534200	Weak transcription	Right Atrium	heart
28	chr12:120525600-120525800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:120525600-120525800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:120525600-120525800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:120525600-120525800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:120525600-120525800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:120525600-120525800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:120525600-120525800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:120525600-120525800	Enhancers	Primary T cells from cord blood	blood
36	chr12:120525600-120525800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr12:120525600-120525800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:120525600-120525800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:120525600-120525800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:120525600-120525800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:120525600-120525800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:120525600-120525800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr12:120525600-120525800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:120525600-120525800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:120525600-120525800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:120525600-120525800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:120525600-120525800	Enhancers	Liver	Liver
48	chr12:120525600-120525800	Enhancers	Brain Anterior Caudate	brain
49	chr12:120525600-120525800	Enhancers	Brain Germinal Matrix	brain
50	chr12:120525600-120525800	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links