Variant report

Variant	rs12366364
Chromosome Location	chr12:281599-281600
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	GATA1	chr12:280717-282059	PBDE	blood:	n/a	chr12:281532-281549 chr12:281541-281550 chr12:280978-280995 chr12:281541-281551 chr12:281543-281553 chr12:281961-281971
2	MYC	chr12:281527-281790	NB4	blood:	n/a	n/a
3	POLR2A	chr12:280493-283617	PBDE	blood:	n/a	n/a
4	MAX	chr12:281575-282123	NB4	blood:	n/a	n/a
5	ZNF263	chr12:281498-281818	HEK293-T-REx	kidney:	n/a	chr12:281642-281651

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:280534..283039-chr12:284171..287283,4	K562	blood:
2	chr12:276004..278175-chr12:278500..282427,3	MCF-7	breast:

Variant related genes	Relation type
IQSEC3	TF binding region
ENSG00000120645	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10848481	0.84[AFR][1000 genomes]
rs2291919	0.87[AFR][1000 genomes]
rs3892665	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv983433	chr12:145740-400932	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv427901	chr12:146333-344299	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv428269	chr12:146333-344299	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1041243	chr12:150430-310571	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1038621	chr12:150430-324923	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv898552	chr12:154752-303320	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:249000-284200	Weak transcription	Right Atrium	heart
2	chr12:253800-285600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:262800-284200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:268800-284200	Weak transcription	Brain Anterior Caudate	brain
5	chr12:273600-284600	Weak transcription	Esophagus	oesophagus
6	chr12:276200-282800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:276200-284000	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:276400-283000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:277200-292800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:277400-283200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:277800-282400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:278400-283400	Weak transcription	Liver	Liver
13	chr12:278400-283600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:278400-288400	Weak transcription	Fetal Kidney	kidney
15	chr12:278600-282200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:278600-283400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:279000-285200	Weak transcription	Fetal Thymus	thymus
18	chr12:279800-283400	Weak transcription	Fetal Lung	lung
19	chr12:280000-282200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:280000-283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:280000-286000	Weak transcription	Fetal Brain Female	brain
22	chr12:280000-289600	Enhancers	Right Ventricle	heart
23	chr12:280400-282000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr12:280400-283600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:280400-283800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr12:280400-286000	Bivalent Enhancer	Placenta	Placenta
27	chr12:280600-282400	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:280600-282600	Enhancers	Fetal Heart	heart
29	chr12:280600-283800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr12:280600-283800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:280600-287400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:280600-288000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:280800-281600	Enhancers	Stomach Mucosa	stomach
34	chr12:280800-281600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:280800-281800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:280800-282000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:281000-281800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:281000-281800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:281000-281800	Enhancers	Hela-S3	cervix
40	chr12:281000-281800	Enhancers	HSMM	muscle
41	chr12:281000-282000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:281000-282000	Enhancers	Gastric	stomach
43	chr12:281000-282200	Enhancers	HSMMtube	muscle
44	chr12:281000-283000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr12:281000-283800	Enhancers	Colonic Mucosa	Colon
46	chr12:281000-283800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr12:281000-290000	Enhancers	Left Ventricle	heart
48	chr12:281200-281800	Weak transcription	Fetal Intestine Small	intestine
49	chr12:281200-282200	Enhancers	Fetal Intestine Large	intestine
50	chr12:281200-282800	Enhancers	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links