Variant report

Variant	rs163682
Chromosome Location	chr12:63145204-63145205
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	NR3C1	chr12:63144737-63145326	A549	lung:	n/a	chr12:63144880-63144897
2	EP300	chr12:63144462-63145923	A549	lung:	n/a	chr12:63144892-63144906
3	SP1	chr12:63144386-63145773	A549	lung:	n/a	n/a
4	ATF3	chr12:63144505-63145292	A549	lung:	n/a	n/a
5	BCL3	chr12:63144433-63145380	A549	lung:	n/a	n/a
6	ATF3	chr12:63144597-63145254	A549	lung:	n/a	n/a
7	CEBPB	chr12:63144681-63145336	A549	lung:	n/a	n/a
8	EP300	chr12:63144437-63145727	A549	lung:	n/a	chr12:63144892-63144906
9	NR3C1	chr12:63144717-63145266	A549	lung:	n/a	chr12:63144880-63144897
10	JUND	chr12:63144573-63145313	A549	lung:	n/a	n/a
11	NR3C1	chr12:63144707-63145354	A549	lung:	n/a	chr12:63144880-63144897
12	GATA3	chr12:63144477-63145803	A549	lung:	n/a	n/a
13	FOXA2	chr12:63144528-63145292	A549	lung:	n/a	n/a
14	GATA3	chr12:63144042-63145575	A549	lung:	n/a	n/a
15	TCF12	chr12:63144342-63146001	A549	lung:	n/a	n/a
16	CREB1	chr12:63144858-63145210	A549	lung:	n/a	n/a
17	REST	chr12:63144463-63145639	A549	lung:	n/a	n/a
18	FOSL2	chr12:63144399-63145700	A549	lung:	n/a	n/a
19	SP1	chr12:63144441-63145655	A549	lung:	n/a	n/a
20	NR3C1	chr12:63144708-63145270	A549	lung:	n/a	chr12:63144880-63144897
21	FOXA2	chr12:63144505-63145300	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63129686..63132741-chr12:63143731..63146913,3	MCF-7	breast:

Variant related genes	Relation type
GAPDHP44	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs163955	0.89[ASW][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802580	chr12:63139188-63157591	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv559157	chr12:63142592-63163019	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs163682	MON2	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
2	chr12:63123000-63152000	Weak transcription	Gastric	stomach
3	chr12:63124200-63145400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:63126000-63149200	Weak transcription	Lung	lung
5	chr12:63126200-63155600	Weak transcription	Aorta	Aorta
6	chr12:63130200-63153200	Weak transcription	Fetal Intestine Large	intestine
7	chr12:63131400-63148000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:63132600-63145400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:63134200-63150600	Weak transcription	Right Atrium	heart
10	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:63138800-63149200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:63139400-63150400	Weak transcription	Left Ventricle	heart
13	chr12:63139800-63148400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:63140000-63149200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:63140000-63150800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:63140800-63145600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:63141800-63147800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:63142600-63145800	Enhancers	Brain Angular Gyrus	brain
20	chr12:63142800-63145400	Weak transcription	HepG2	liver
21	chr12:63143000-63145400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:63143400-63153200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:63143800-63155600	Weak transcription	Psoas Muscle	Psoas
24	chr12:63144400-63145600	Flanking Active TSS	A549	lung
25	chr12:63144600-63145400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:63144600-63145800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:63144600-63145800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:63144600-63145800	Enhancers	Brain Cingulate Gyrus	brain
29	chr12:63144600-63145800	Enhancers	Brain Substantia Nigra	brain
30	chr12:63144600-63145800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:63144600-63146000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:63144600-63146000	Enhancers	Small Intestine	intestine
33	chr12:63144800-63145600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:63144800-63145600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:63144800-63145800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:63144800-63145800	Enhancers	Brain Hippocampus Middle	brain
37	chr12:63144800-63145800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr12:63145000-63145600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:63145000-63145600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:63145000-63145800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:63145000-63145800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:63145000-63145800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:63145000-63145800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:63145000-63145800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:63145000-63145800	Enhancers	Duodenum Mucosa	Duodenum
46	chr12:63145000-63145800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr12:63145000-63149200	Weak transcription	Fetal Stomach	stomach
48	chr12:63145000-63151600	Weak transcription	Fetal Kidney	kidney
49	chr12:63145200-63150800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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