Variant report

Variant	rs4018512
Chromosome Location	chr12:49394126-49394127
allele	A/G
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	MXI1	chr12:49393107-49394204	IMR90	lung:	n/a	n/a
2	POLR2A	chr12:49393068-49394179	K562	blood:	n/a	n/a
3	POLR2A	chr12:49393084-49394226	Hela-S3	cervix:	n/a	n/a
4	PML	chr12:49392273-49394326	GM12878	blood:	n/a	chr12:49392710-49392719
5	POLR2A	chr12:49393172-49394282	GM12891	blood:	n/a	n/a
6	POLR2A	chr12:49393775-49394404	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:49394072-49395098	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr12:49394061-49394413	HepG2	liver:	n/a	n/a
9	MAX	chr12:49392415-49394355	NB4	blood:	n/a	chr12:49393355-49393365 chr12:49393092-49393102 chr12:49393269-49393279 chr12:49392711-49392720 chr12:49393573-49393582
10	MTA3	chr12:49393069-49394555	GM12878	blood:	n/a	n/a
11	MXI1	chr12:49391980-49395166	SK-N-SH	brain:	n/a	n/a
12	CHD1	chr12:49393883-49394131	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:49393165-49394471	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49370672..49373205-chr12:49390197..49394754,4	MCF-7	breast:
2	chr12:49390603..49394865-chr12:49395546..49401151,4	MCF-7	breast:

Variant related genes	Relation type
DDN	TF binding region
ENSG00000125084	Chromatin interaction
ENSG00000181929	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11168820	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168821	1.00[AMR][1000 genomes]
rs11168823	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168824	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168826	1.00[AMR][1000 genomes]
rs12303646	1.00[AMR][1000 genomes]
rs12304391	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs12309341	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs12315734	0.82[ASW][hapmap];0.92[MKK][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs13377622	1.00[ASW][hapmap]
rs13377924	1.00[AMR][1000 genomes]
rs13377927	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49391600-49395200	Enhancers	Fetal Heart	heart
2	chr12:49392400-49394200	Flanking Active TSS	HSMM	muscle
3	chr12:49392600-49394400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:49392600-49394600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
5	chr12:49392600-49395000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:49392800-49394400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
7	chr12:49392800-49394400	Bivalent Enhancer	Fetal Lung	lung
8	chr12:49392800-49394400	Enhancers	Gastric	stomach
9	chr12:49392800-49394400	Enhancers	Pancreas	Pancrea
10	chr12:49392800-49394400	Enhancers	HMEC	breast
11	chr12:49392800-49394800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr12:49392800-49395000	Weak transcription	Aorta	Aorta
13	chr12:49393200-49394200	Flanking Active TSS	Osteobl	bone
14	chr12:49393200-49394400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr12:49393200-49394400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
16	chr12:49393200-49394600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:49393200-49394800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:49393200-49394800	Flanking Active TSS	GM12878-XiMat	blood
19	chr12:49393400-49394200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:49393400-49394200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr12:49393400-49394200	Bivalent Enhancer	Fetal Thymus	thymus
22	chr12:49393400-49394200	Enhancers	Ovary	ovary
23	chr12:49393400-49394600	Flanking Active TSS	Hela-S3	cervix
24	chr12:49393400-49394600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
25	chr12:49393600-49394200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:49393600-49394200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr12:49393600-49394200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
28	chr12:49393600-49394200	Bivalent Enhancer	Fetal Stomach	stomach
29	chr12:49393600-49394400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:49393600-49394400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:49393600-49394400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:49393600-49394400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:49393600-49394400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr12:49393600-49394400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr12:49393600-49394400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:49393600-49394400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
37	chr12:49393600-49394400	Bivalent Enhancer	Colon Smooth Muscle	Colon
38	chr12:49393600-49394400	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr12:49393600-49394400	Enhancers	Right Ventricle	heart
40	chr12:49393600-49394600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr12:49393600-49394600	Enhancers	Left Ventricle	heart
42	chr12:49393600-49394800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:49393600-49394800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr12:49393600-49394800	Enhancers	Right Atrium	heart
45	chr12:49393600-49395000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:49393600-49395000	Bivalent/Poised TSS	Fetal Kidney	kidney
47	chr12:49393600-49395200	Bivalent Enhancer	Brain Angular Gyrus	brain
48	chr12:49393800-49394200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chr12:49393800-49394200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr12:49393800-49394200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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