Variant report

Variant	rs12314036
Chromosome Location	chr12:50099729-50099730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:50099689-50100038	GM12891	blood:	n/a	chr12:50099841-50099850
2	GATA2	chr12:50099535-50099846	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr12:50099122-50099739	GM18951	blood:	n/a	n/a
4	RUNX3	chr12:50099117-50100376	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:50099264-50101397	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:50099296-50099731	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr12:50099167-50100031	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:50096226-50101443	GM12878	blood:	n/a	n/a
9	NFIC	chr12:50098539-50100268	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:50098513-50101410	GM12892	blood:	n/a	n/a
11	CTCF	chr12:50099580-50099730	GM06990	blood:	n/a	n/a
12	POLR2A	chr12:50099022-50101605	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr12:50099272-50099905	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr12:50098607-50101521	GM18505	blood:	n/a	n/a
15	POLR2A	chr12:50099120-50099953	U87	brain:	n/a	n/a
16	POLR2A	chr12:50099116-50099946	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:50099011-50099752	GM12892	blood:	n/a	n/a
18	POLR2A	chr12:50099269-50099817	U87	brain:	n/a	n/a
19	EBF1	chr12:50099221-50099753	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:50098555-50100491	GM12891	blood:	n/a	n/a
21	MTA3	chr12:50098526-50100665	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:50099087-50101652	IMR90	lung:	n/a	n/a
23	POLR2A	chr12:50099374-50099756	ProgFib	skin:	n/a	n/a
24	ATF2	chr12:50099034-50099931	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:50099306-50099776	Gliobla	brain:	n/a	n/a
26	STAT5A	chr12:50098515-50100747	GM12878	blood:	n/a	chr12:50100554-50100566
27	IKZF1	chr12:50098916-50100137	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:50099086-50099818	GM19193	blood:	n/a	n/a
29	CEBPB	chr12:50099104-50099733	GM12878	blood:	n/a	n/a
30	RUNX3	chr12:50099028-50100537	GM12878	blood:	n/a	n/a
31	GATA2	chr12:50099318-50100038	HUVEC	blood vessel:	n/a	chr12:50100031-50100038
32	FOS	chr12:50099255-50099740	HUVEC	blood vessel:	n/a	chr12:50099457-50099469 chr12:50099457-50099468 chr12:50099459-50099467
33	NFATC1	chr12:50098891-50100310	GM12878	blood:	n/a	n/a
34	SPI1	chr12:50099357-50100013	GM12891	blood:	n/a	chr12:50099573-50099586 chr12:50099841-50099850 chr12:50099575-50099584
35	RAD21	chr12:50099240-50099762	IMR90	lung:	n/a	n/a
36	PML	chr12:50098485-50100276	GM12878	blood:	n/a	n/a
37	RELA	chr12:50098651-50100584	GM19099	blood:	n/a	n/a
38	RELA	chr12:50098640-50100637	GM18951	blood:	n/a	n/a
39	POLR2A	chr12:50098510-50100654	GM12892	blood:	n/a	n/a
40	EBF1	chr12:50098576-50099858	GM12878	blood:	n/a	n/a
41	RELA	chr12:50098699-50100280	GM15510	blood:	n/a	n/a
42	MXI1	chr12:50098615-50100343	GM12878	blood:	n/a	n/a
43	FOSL2	chr12:50099250-50099772	SK-N-SH	brain:	n/a	chr12:50099457-50099469 chr12:50099459-50099467
44	CHD1	chr12:50099004-50100438	GM12878	blood:	n/a	chr12:50100137-50100147
45	POU2F2	chr12:50098928-50099798	GM12878	blood:	n/a	chr12:50099126-50099140
46	GATA3	chr12:50099177-50099994	SK-N-SH	brain:	n/a	n/a
47	FOXM1	chr12:50099097-50100208	GM12878	blood:	n/a	n/a
48	EBF1	chr12:50099175-50099804	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:50098795-50101520	GM19099	blood:	n/a	n/a
50	STAT5A	chr12:50099261-50099825	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50066175..50068343-chr12:50098186..50100084,3	K562	blood:
2	chr12:50097894..50103527-chr12:50133840..50136991,8	K562	blood:
3	chr12:50097260..50102816-chr12:50134110..50137683,7	MCF-7	breast:
4	chr12:50096479..50103459-chr12:50133671..50138995,13	K562	blood:
5	chr12:50080839..50082348-chr12:50098769..50100766,2	K562	blood:
6	chr12:50097487..50099802-chr12:50102070..50104731,2	MCF-7	breast:
7	chr12:50034899..50039875-chr12:50099580..50104040,10	MCF-7	breast:
8	chr12:50030096..50031620-chr12:50098053..50100188,2	MCF-7	breast:
9	chr12:50015702..50019275-chr12:50098468..50101444,3	MCF-7	breast:
10	chr12:50099618..50102364-chr12:50142236..50145462,3	K562	blood:
11	chr12:50035440..50045362-chr12:50096806..50104789,13	K562	blood:
12	chr12:50033388..50039946-chr12:50098324..50104633,12	K562	blood:
13	chr12:50092701..50095008-chr12:50097299..50100800,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257570	TF binding region
TMBIM6	TF binding region
ENSG00000139644	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000257570	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10128824	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169110	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169114	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169115	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169120	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297814	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300919	0.83[AFR][1000 genomes]
rs12300962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306951	1.00[AMR][1000 genomes]
rs12310580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312112	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313681	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317162	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320895	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1317263	1.00[AMR][1000 genomes]
rs17119738	1.00[AMR][1000 genomes]
rs17123787	1.00[AMR][1000 genomes]
rs17123827	1.00[AMR][1000 genomes]
rs17123879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123924	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805090	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50093200-50100200	Weak transcription	Esophagus	oesophagus
2	chr12:50093400-50099800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:50095800-50100000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:50096400-50100000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:50097000-50099800	Enhancers	K562	blood
6	chr12:50097600-50100400	Weak transcription	Small Intestine	intestine
7	chr12:50098600-50099800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:50098600-50099800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:50098600-50099800	Flanking Active TSS	NH-A	brain
10	chr12:50098600-50100000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:50098600-50100000	Flanking Active TSS	HUVEC	blood vessel
12	chr12:50098600-50100000	Flanking Active TSS	Osteobl	bone
13	chr12:50098600-50100200	Enhancers	Spleen	Spleen
14	chr12:50098600-50100400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr12:50098600-50100400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr12:50098800-50099800	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr12:50098800-50099800	Enhancers	Fetal Brain Male	brain
18	chr12:50098800-50100000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr12:50098800-50100000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr12:50098800-50100000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:50098800-50100200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:50098800-50100200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr12:50098800-50100200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr12:50098800-50100200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:50098800-50100400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr12:50098800-50100400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:50098800-50100400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:50098800-50100600	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr12:50098800-50101600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:50099000-50099800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr12:50099000-50099800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr12:50099000-50099800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr12:50099000-50099800	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr12:50099000-50099800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr12:50099000-50100000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr12:50099000-50100000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:50099000-50100000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:50099000-50100000	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr12:50099000-50100000	Flanking Active TSS	NHDF-Ad	bronchial
40	chr12:50099000-50100200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:50099000-50100200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:50099000-50100200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:50099000-50100400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:50099000-50100600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr12:50099000-50101400	Active TSS	Left Ventricle	heart
46	chr12:50099000-50101600	Active TSS	Fetal Kidney	kidney
47	chr12:50099200-50099800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:50099200-50099800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:50099200-50099800	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr12:50099200-50099800	Flanking Active TSS	Fetal Brain Female	brain

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