Variant report

Variant	rs545338632
Chromosome Location	chr12:40015128-40015129
allele	G/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	MEF2A	chr12:40014935-40015504	GM12878	blood:	n/a	chr12:40015216-40015230
2	ZNF384	chr12:40014579-40015479	GM12878	blood:	n/a	n/a
3	HEY1	chr12:40014913-40015298	K562	blood:	n/a	n/a
4	POU2F2	chr12:40014968-40015329	GM12891	blood:	n/a	n/a
5	NFATC1	chr12:40014971-40015659	GM12878	blood:	n/a	n/a
6	EP300	chr12:40015092-40015535	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:40014891-40015599	GM12892	blood:	n/a	n/a
8	NFIC	chr12:40014951-40015639	GM12878	blood:	n/a	n/a
9	FOXM1	chr12:40014819-40015528	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:40011748-40015954	GM12878	blood:	n/a	n/a
11	ATF2	chr12:40015033-40015558	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:40011711-40015724	GM19193	blood:	n/a	n/a
13	POLR2A	chr12:40011618-40015633	GM12891	blood:	n/a	n/a
14	EBF1	chr12:40014873-40015235	GM12878	blood:	n/a	n/a
15	TBP	chr12:40015091-40015444	K562	blood:	n/a	n/a
16	RELA	chr12:40015060-40015590	GM19099	blood:	n/a	n/a
17	YY1	chr12:40014871-40015321	GM12878	blood:	n/a	chr12:40015263-40015272
18	BCLAF1	chr12:40015092-40015585	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:40011640-40015813	GM18505	blood:	n/a	n/a
20	EP300	chr12:40015062-40015584	GM12878	blood:	n/a	n/a
21	POU2F2	chr12:40014915-40015415	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:40015104-40015130	H1-hESC	embryonic stem cell:	n/a	n/a
23	RELA	chr12:40015009-40015700	GM19193	blood:	n/a	n/a
24	POLR2A	chr12:40014981-40015292	K562	blood:	n/a	n/a
25	POLR2A	chr12:40011695-40015642	GM12892	blood:	n/a	n/a
26	POLR2A	chr12:40014795-40015569	GM12878	blood:	n/a	n/a
27	POU2F2	chr12:40015002-40015375	GM12878	blood:	n/a	n/a
28	MTA3	chr12:40012267-40015651	GM12878	blood:	n/a	n/a
29	WRNIP1	chr12:40015061-40015261	GM12878	blood:	n/a	n/a
30	ZNF384	chr12:40014456-40015737	K562	blood:	n/a	n/a
31	MEF2C	chr12:40015037-40015481	GM12878	blood:	n/a	chr12:40015216-40015230
32	POLR2A	chr12:40011695-40015585	GM19099	blood:	n/a	n/a
33	MAZ	chr12:40015122-40015790	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:40014946-40015474	GM12878	blood:	n/a	n/a
35	RELA	chr12:40014988-40015764	GM12878	blood:	n/a	n/a
36	PML	chr12:40012932-40015655	GM12878	blood:	n/a	n/a
37	MEF2A	chr12:40014899-40015507	GM12878	blood:	n/a	chr12:40015216-40015230
38	POLR2A	chr12:40014975-40015268	GM12891	blood:	n/a	n/a
39	RUNX3	chr12:40014932-40015577	GM12878	blood:	n/a	n/a
40	NFIC	chr12:40011603-40015858	GM12878	blood:	n/a	n/a
41	FOXM1	chr12:40014986-40015582	GM12878	blood:	n/a	n/a
42	BCLAF1	chr12:40014878-40015503	GM12878	blood:	n/a	n/a
43	RELA	chr12:40015024-40015661	GM18951	blood:	n/a	n/a
44	POLR2A	chr12:40014898-40015400	GM12891	blood:	n/a	n/a
45	BCL11A	chr12:40015067-40015497	GM12878	blood:	n/a	n/a
46	RELA	chr12:40014994-40015616	GM12891	blood:	n/a	n/a
47	ATF2	chr12:40014910-40015547	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:40011409-40015472	GM12878	blood:	n/a	n/a
49	MXI1	chr12:40011430-40015371	SK-N-SH	brain:	n/a	n/a
50	CEBPB	chr12:40013272-40015600	GM12878	blood:	n/a	chr12:40013664-40013672

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40014171..40017168-chr12:40017549..40021409,3	K562	blood:
2	chr12:40010562..40012556-chr12:40014262..40016328,2	K562	blood:

Variant related genes	Relation type
ABCD2	TF binding region
C12orf40	TF binding region
ENSG00000180116	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1039645	chr12:39903123-40022029	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv469359	chr12:39946354-40034699	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv558591	chr12:39946354-40034699	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv469361	chr12:39946354-40042220	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv558592	chr12:39946354-40042220	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv899014	chr12:39946354-40068896	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv899015	chr12:39946354-40118249	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv899017	chr12:39949147-40081619	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv899018	chr12:39949147-40111761	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv899020	chr12:39985206-40040331	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv899021	chr12:39989172-40053423	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv899022	chr12:40014427-40111761	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40009400-40015400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:40009800-40015200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr12:40009800-40015200	Active TSS	Right Atrium	heart
4	chr12:40011800-40015200	Active TSS	Brain Cingulate Gyrus	brain
5	chr12:40012600-40015200	Active TSS	Colonic Mucosa	Colon
6	chr12:40012800-40015200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr12:40013000-40015200	Active TSS	Rectal Smooth Muscle	rectum
8	chr12:40013200-40015200	Active TSS	Duodenum Mucosa	Duodenum
9	chr12:40014200-40015400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr12:40014200-40015600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr12:40014200-40015600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr12:40014200-40018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:40014400-40015200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:40014400-40015400	Flanking Active TSS	Dnd41	blood
15	chr12:40014400-40015600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr12:40014600-40015200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:40014600-40015200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:40014600-40015200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:40014800-40015200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:40014800-40015200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:40014800-40015200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:40014800-40015200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:40014800-40015200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:40014800-40015200	Enhancers	Brain Germinal Matrix	brain
25	chr12:40014800-40015200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:40014800-40015200	Enhancers	Stomach Smooth Muscle	stomach
27	chr12:40014800-40015200	Enhancers	HMEC	breast
28	chr12:40014800-40015200	Enhancers	NHDF-Ad	bronchial
29	chr12:40014800-40015400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:40014800-40015600	Enhancers	K562	blood
31	chr12:40014800-40016800	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:40014800-40017800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:40015000-40015200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:40015000-40015200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:40015000-40015200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:40015000-40015200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:40015000-40015200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr12:40015000-40015200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:40015000-40015200	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr12:40015000-40015200	Enhancers	Esophagus	oesophagus
41	chr12:40015000-40015200	Enhancers	Fetal Brain Female	brain
42	chr12:40015000-40015200	Enhancers	Fetal Muscle Trunk	muscle
43	chr12:40015000-40015200	Enhancers	Left Ventricle	heart
44	chr12:40015000-40015200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:40015000-40015200	Flanking Active TSS	GM12878-XiMat	blood
46	chr12:40015000-40015200	Flanking Active TSS	Hela-S3	cervix
47	chr12:40015000-40015400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr12:40015000-40015400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:40015000-40015400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr12:40015000-40015400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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