Variant report

Variant	rs2596142
Chromosome Location	chr12:122297014-122297015
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	chr12:122296742-122297616	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr12:122296920-122297070	HRPEpiC	eye:	n/a	n/a
3	TCF12	chr12:122296959-122297667	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr12:122296880-122297030	AoAF	blood vessel:	n/a	n/a
5	YY1	chr12:122296682-122297153	HepG2	liver:	n/a	n/a
6	SMARCC1	chr12:122296967-122297648	Hela-S3	cervix:	n/a	n/a
7	HSF1	chr12:122296665-122297501	HepG2	liver:	n/a	chr12:122296859-122296874
8	POLR2A	chr12:122294436-122297491	HepG2	liver:	n/a	n/a
9	FOXA2	chr12:122296768-122297461	HepG2	liver:	n/a	n/a
10	FOSL2	chr12:122296750-122297612	HepG2	liver:	n/a	chr12:122297450-122297461
11	RCOR1	chr12:122296535-122297539	HepG2	liver:	n/a	n/a
12	CTCF	chr12:122296900-122297050	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr12:122296920-122297070	HCM	heart:	n/a	n/a
14	CREB1	chr12:122296234-122297662	HepG2	liver:	n/a	n/a
15	MBD4	chr12:122296449-122297524	HepG2	liver:	n/a	n/a
16	NFIC	chr12:122296720-122297277	HepG2	liver:	n/a	n/a
17	MAZ	chr12:122296557-122297577	HepG2	liver:	n/a	n/a
18	CTCF	chr12:122296900-122297050	NHLF	lung:	n/a	n/a
19	MAFK	chr12:122296528-122297071	HepG2	liver:	n/a	n/a
20	JUND	chr12:122297005-122297639	SK-N-SH	brain:	n/a	chr12:122297450-122297461
21	CTCF	chr12:122296940-122297090	HPF	lung:	n/a	n/a
22	HNF4A	chr12:122296502-122297515	HepG2	liver:	n/a	chr12:122297037-122297052 chr12:122297388-122297403 chr12:122296532-122296547
23	HNF4G	chr12:122296695-122297317	HepG2	liver:	n/a	chr12:122297036-122297051
24	MYC	chr12:122296789-122297046	HepG2	liver:	n/a	n/a
25	HDAC2	chr12:122296594-122297506	HepG2	liver:	n/a	chr12:122296621-122296635 chr12:122296626-122296640
26	TEAD4	chr12:122296770-122297581	SK-N-SH	brain:	n/a	n/a
27	NR3C1	chr12:122296732-122297105	A549	lung:	n/a	n/a
28	NFIC	chr12:122296681-122297662	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr12:122296333-122297450	HepG2	liver:	n/a	n/a
30	CTCF	chr12:122296900-122297050	HVMF	connective:	n/a	n/a
31	REST	chr12:122296642-122297175	HepG2	liver:	n/a	n/a
32	JUN	chr12:122297002-122297619	HepG2	liver:	n/a	chr12:122297390-122297403 chr12:122297450-122297461
33	NFIC	chr12:122296623-122297729	SK-N-SH	brain:	n/a	n/a
34	MAX	chr12:122296829-122297538	Hela-S3	cervix:	n/a	n/a
35	JUND	chr12:122296766-122297715	SK-N-SH	brain:	n/a	chr12:122297450-122297461
36	ARID3A	chr12:122296705-122297646	HepG2	liver:	n/a	n/a
37	CTCF	chr12:122296880-122297030	AG09309	skin:	n/a	n/a
38	MYBL2	chr12:122296395-122297723	HepG2	liver:	n/a	n/a
39	MBD4	chr12:122296827-122297548	HepG2	liver:	n/a	n/a
40	EP300	chr12:122296681-122297517	HepG2	liver:	n/a	n/a
41	TEAD4	chr12:122296501-122297701	HepG2	liver:	n/a	n/a
42	MAX	chr12:122296843-122297245	HepG2	liver:	n/a	n/a
43	TAF1	chr12:122296616-122297111	HepG2	liver:	n/a	n/a
44	PBX3	chr12:122296921-122297646	SK-N-SH	brain:	n/a	n/a
45	HNF4A	chr12:122296641-122297508	HepG2	liver:	n/a	chr12:122297037-122297052 chr12:122297388-122297403
46	CEBPB	chr12:122296771-122297530	HepG2	liver:	n/a	n/a
47	MXI1	chr12:122296438-122297605	HepG2	liver:	n/a	n/a
48	TEAD4	chr12:122296946-122297657	SK-N-SH	brain:	n/a	n/a
49	JUND	chr12:122296865-122297635	HepG2	liver:	n/a	chr12:122297450-122297461
50	TEAD4	chr12:122296800-122297561	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122240928..122242947-chr12:122294701..122297543,2	MCF-7	breast:

Variant related genes	Relation type
HPD	TF binding region
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4522209	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs58642707	0.80[EUR][1000 genomes]
rs59695002	0.80[EUR][1000 genomes]
rs73217765	1.00[AFR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122294000-122298600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:122294200-122297600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:122294200-122297800	Weak transcription	Primary B cells from cord blood	blood
4	chr12:122294200-122299000	Enhancers	A549	lung
5	chr12:122294600-122297800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:122294800-122298800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:122295200-122298600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:122295400-122297400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:122295400-122297400	Enhancers	Pancreas	Pancrea
10	chr12:122295400-122297800	Enhancers	Fetal Intestine Small	intestine
11	chr12:122295400-122300000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:122295400-122300400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:122295600-122298000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:122295600-122298400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:122295600-122298400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:122295600-122298400	Enhancers	Adipose Nuclei	Adipose
17	chr12:122295600-122298600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:122295600-122298600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:122295800-122297200	Enhancers	Fetal Muscle Trunk	muscle
20	chr12:122295800-122297600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:122295800-122297600	Enhancers	Osteobl	bone
22	chr12:122295800-122299200	Weak transcription	K562	blood
23	chr12:122296000-122297200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:122296000-122297200	Active TSS	Liver	Liver
25	chr12:122296200-122298000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:122296200-122298400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:122296200-122298800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:122296400-122297200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:122296400-122297200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:122296400-122297200	Enhancers	Spleen	Spleen
31	chr12:122296400-122297400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:122296400-122297600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:122296400-122297800	Enhancers	Colonic Mucosa	Colon
34	chr12:122296400-122297800	Enhancers	Fetal Muscle Leg	muscle
35	chr12:122296400-122297800	Enhancers	Fetal Stomach	stomach
36	chr12:122296400-122297800	Enhancers	Ovary	ovary
37	chr12:122296400-122297800	Enhancers	Right Ventricle	heart
38	chr12:122296400-122297800	Enhancers	HSMM	muscle
39	chr12:122296400-122297800	Enhancers	HSMMtube	muscle
40	chr12:122296400-122298000	Enhancers	NHLF	lung
41	chr12:122296400-122298400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:122296400-122298400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:122296400-122298600	Enhancers	Right Atrium	heart
44	chr12:122296400-122298600	Enhancers	Hela-S3	cervix
45	chr12:122296600-122297200	Enhancers	Fetal Intestine Large	intestine
46	chr12:122296600-122297400	Enhancers	Placenta	Placenta
47	chr12:122296600-122297600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:122296600-122297600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:122296600-122297600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:122296600-122297600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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