Variant report

Variant	rs2724633
Chromosome Location	chr12:11902506-11902507
allele	C/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	BCLAF1	chr12:11901846-11903831	GM12878	blood:	n/a	chr12:11901898-11901907 chr12:11903114-11903123 chr12:11903506-11903515
2	POLR2A	chr12:11901486-11903738	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:11902150-11903815	GM12892	blood:	n/a	n/a
4	POLR2A	chr12:11900733-11904557	GM12878	blood:	n/a	n/a
5	CEBPB	chr12:11902308-11903820	GM12878	blood:	n/a	chr12:11902500-11902512
6	EP300	chr12:11902458-11903720	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:11902294-11903580	GM12891	blood:	n/a	n/a
8	POLR2A	chr12:11898061-11904528	GM12891	blood:	n/a	n/a
9	POLR2A	chr12:11901469-11903614	GM12892	blood:	n/a	n/a
10	PML	chr12:11901583-11904023	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:11902181-11903648	GM12891	blood:	n/a	n/a
12	STAT5A	chr12:11902260-11903770	GM12878	blood:	n/a	chr12:11903542-11903556 chr12:11903327-11903339 chr12:11903545-11903568 chr12:11903504-11903515
13	POLR2A	chr12:11896700-11904611	GM12878	blood:	n/a	n/a
14	MXI1	chr12:11902500-11903850	GM12878	blood:	n/a	n/a
15	MTA3	chr12:11902325-11903744	GM12878	blood:	n/a	n/a
16	BCLAF1	chr12:11902367-11903952	GM12878	blood:	n/a	chr12:11903114-11903123 chr12:11903506-11903515
17	POLR2A	chr12:11902213-11903624	GM12892	blood:	n/a	n/a
18	TBL1XR1	chr12:11902218-11903931	GM12878	blood:	n/a	n/a
19	NFIC	chr12:11901756-11904078	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:11901705-11903805	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:11901566-11903685	GM19193	blood:	n/a	n/a
22	NFATC1	chr12:11902184-11903759	GM12878	blood:	n/a	n/a
23	EBF1	chr12:11902032-11903633	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:11898061-11904425	GM12878	blood:	n/a	n/a
25	MTA3	chr12:11900846-11904136	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:11902170-11903680	GM12891	blood:	n/a	n/a
27	WRNIP1	chr12:11901609-11903576	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:11901473-11903688	GM12892	blood:	n/a	n/a
29	STAT3	chr12:11902506-11902514	MCF10A-Er-Src	breast:	n/a	n/a
30	CHD1	chr12:11902412-11904096	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ETV6	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1009951	0.83[EUR][1000 genomes]
rs1009953	0.83[EUR][1000 genomes]
rs1009954	0.92[CEU][hapmap];0.84[JPT][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10743967	0.90[EUR][1000 genomes]
rs10845407	0.82[ASN][1000 genomes]
rs10845408	0.88[CEU][hapmap];0.87[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11054421	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs11054423	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs11054424	0.85[EUR][1000 genomes]
rs11054429	0.86[EUR][1000 genomes]
rs11054433	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs11054439	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11615175	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12228191	0.85[ASN][1000 genomes]
rs12369491	0.81[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17818498	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17818624	0.92[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2051525	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2187642	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs2724588	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2724599	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2724600	0.81[EUR][1000 genomes]
rs2724616	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2724618	0.88[EUR][1000 genomes]
rs2724645	0.83[EUR][1000 genomes]
rs2724648	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2856321	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs2856322	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs2856324	0.82[EUR][1000 genomes]
rs2856338	0.91[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2856344	0.83[EUR][1000 genomes]
rs2900208	0.88[CEU][hapmap];0.87[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2954980	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs4763719	0.82[EUR][1000 genomes]
rs4763720	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs4763721	0.85[ASN][1000 genomes]
rs7488701	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs762717	0.81[EUR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:11882400-11902600	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:11882400-11903200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:11883800-11906000	Weak transcription	Liver	Liver
5	chr12:11885200-11906200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:11885600-11905200	Weak transcription	Fetal Intestine Large	intestine
7	chr12:11885800-11911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:11893200-11915000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:11894600-11905200	Weak transcription	Fetal Intestine Small	intestine
10	chr12:11894600-11905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:11894600-11905400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:11894600-11906200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:11894600-11908400	Weak transcription	Psoas Muscle	Psoas
14	chr12:11894800-11906000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:11894800-11906600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:11895000-11906000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:11895000-11906800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:11895000-11912600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:11895400-11906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:11895400-11914400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:11895600-11908800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:11896000-11906200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:11896400-11902800	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:11897000-11905400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:11897000-11906400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:11897000-11906400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:11897000-11908800	Weak transcription	Brain Anterior Caudate	brain
28	chr12:11897200-11902600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:11897200-11905400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:11897400-11902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:11897600-11902600	Weak transcription	Right Ventricle	heart
32	chr12:11897600-11904200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:11897600-11904600	Enhancers	Thymus	Thymus
34	chr12:11897800-11904200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:11897800-11904200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:11897800-11904200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:11897800-11904600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:11897800-11905200	Weak transcription	Esophagus	oesophagus
39	chr12:11897800-11905400	Weak transcription	Aorta	Aorta
40	chr12:11898200-11902600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:11898400-11905400	Weak transcription	Fetal Brain Male	brain
42	chr12:11898600-11903400	Enhancers	Stomach Smooth Muscle	stomach
43	chr12:11898800-11905200	Weak transcription	Fetal Stomach	stomach
44	chr12:11899200-11902600	Weak transcription	Pancreas	Pancrea
45	chr12:11899200-11903000	Enhancers	Primary B cells from cord blood	blood
46	chr12:11899200-11904400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:11899200-11904800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:11899200-11905200	Weak transcription	Placenta	Placenta
49	chr12:11899200-11905200	Weak transcription	Left Ventricle	heart
50	chr12:11899200-11905600	Weak transcription	Primary T cells from cord blood	blood

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