Variant report

Variant	rs2436595
Chromosome Location	chr12:106478328-106478329
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	MAX	chr12:106477662-106478558	A549	lung:	n/a	n/a
2	TCF12	chr12:106477634-106478552	SK-N-SH	brain:	n/a	chr12:106478434-106478441
3	TCF7L2	chr12:106477571-106478381	HEK293	kidney:	n/a	n/a
4	TCF12	chr12:106477655-106478543	ECC-1	luminal epithelium:	n/a	chr12:106478434-106478441
5	REST	chr12:106477176-106478581	H1-neurons	neurons:	n/a	chr12:106477875-106477888
6	POLR2A	chr12:106477727-106478450	PANC-1	pancreas:	n/a	n/a
7	PBX3	chr12:106477572-106478377	SK-N-SH	brain:	n/a	chr12:106478316-106478325
8	MYC	chr12:106478031-106478416	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr12:106477408-106478733	A549	lung:	n/a	n/a
10	BCL3	chr12:106477648-106478337	A549	lung:	n/a	n/a
11	FOSL2	chr12:106477629-106478360	A549	lung:	n/a	chr12:106478317-106478326
12	TEAD4	chr12:106477617-106478361	ECC-1	luminal epithelium:	n/a	n/a
13	EP300	chr12:106477549-106478566	A549	lung:	n/a	chr12:106477761-106477775
14	SP1	chr12:106477432-106478392	A549	lung:	n/a	n/a
15	NFIC	chr12:106477689-106478368	ECC-1	luminal epithelium:	n/a	n/a
16	TCF12	chr12:106477667-106478467	SK-N-SH	brain:	n/a	chr12:106478434-106478441
17	RAD21	chr12:106477606-106478371	IMR90	lung:	n/a	n/a
18	RAD21	chr12:106477786-106478419	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr12:106478246-106478408	H1-hESC	embryonic stem cell:	n/a	n/a
20	PBX3	chr12:106477640-106478358	SK-N-SH	brain:	n/a	chr12:106478316-106478325
21	SP1	chr12:106477635-106478350	A549	lung:	n/a	n/a
22	POLR2A	chr12:106477691-106478578	PANC-1	pancreas:	n/a	n/a
23	TCF12	chr12:106477530-106478710	A549	lung:	n/a	chr12:106478434-106478441
24	EP300	chr12:106477571-106478593	ECC-1	luminal epithelium:	n/a	chr12:106477761-106477775
25	GATA3	chr12:106477671-106478396	SK-N-SH	brain:	n/a	n/a
26	TCF12	chr12:106477566-106478578	ECC-1	luminal epithelium:	n/a	chr12:106478434-106478441
27	GATA3	chr12:106477625-106478513	SK-N-SH	brain:	n/a	n/a
28	TCF7L2	chr12:106477493-106478488	PANC-1	pancreas:	n/a	n/a
29	MAX	chr12:106477607-106478429	SK-N-SH	brain:	n/a	n/a
30	EP300	chr12:106477471-106478446	SK-N-SH	brain:	n/a	chr12:106477761-106477775
31	MAX	chr12:106477676-106478522	ECC-1	luminal epithelium:	n/a	n/a
32	GATA3	chr12:106477501-106478418	A549	lung:	n/a	n/a

Variant related genes	Relation type
NUAK1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10746054	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10861554	1.00[CHB][hapmap]
rs1560761	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs892270	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106458800-106500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:106461800-106499600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:106462400-106482600	Weak transcription	Esophagus	oesophagus
4	chr12:106465200-106487000	Weak transcription	Brain Germinal Matrix	brain
5	chr12:106469000-106490200	Weak transcription	Gastric	stomach
6	chr12:106469000-106499400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:106471400-106478400	Enhancers	Right Atrium	heart
8	chr12:106472000-106478400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:106472400-106479400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:106472800-106480400	Weak transcription	Pancreas	Pancrea
11	chr12:106472800-106480600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:106473000-106482000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:106474600-106480000	Enhancers	NHDF-Ad	bronchial
14	chr12:106474600-106484600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:106474800-106479800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:106475000-106482400	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:106475200-106478600	Genic enhancers	Left Ventricle	heart
18	chr12:106475400-106482200	Weak transcription	Psoas Muscle	Psoas
19	chr12:106475800-106484200	Weak transcription	Hela-S3	cervix
20	chr12:106476200-106479400	Enhancers	Fetal Heart	heart
21	chr12:106476400-106478400	Genic enhancers	Right Ventricle	heart
22	chr12:106476400-106479400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:106476600-106483200	Weak transcription	Fetal Brain Male	brain
24	chr12:106476800-106478600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:106476800-106478600	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:106477000-106478600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:106477000-106480400	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:106477000-106484400	Weak transcription	Lung	lung
29	chr12:106477000-106487200	Weak transcription	HepG2	liver
30	chr12:106477400-106478400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:106477400-106478400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr12:106477400-106478400	Genic enhancers	Aorta	Aorta
33	chr12:106477400-106478400	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr12:106477400-106478400	Enhancers	Duodenum Mucosa	Duodenum
35	chr12:106477400-106478600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:106477400-106478600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:106477400-106478600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr12:106477400-106478800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:106477400-106478800	Enhancers	Fetal Kidney	kidney
40	chr12:106477400-106479000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:106477400-106479200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:106477400-106479200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:106477600-106478400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:106477600-106478400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr12:106477600-106478400	Transcr. at gene 5' and 3'	HSMM	muscle
46	chr12:106477600-106478400	Flanking Active TSS	NH-A	brain
47	chr12:106477600-106478400	Flanking Active TSS	NHLF	lung
48	chr12:106477600-106478600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:106477600-106478600	Enhancers	HMEC	breast
50	chr12:106477600-106478800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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