Variant report

Variant	rs565521704
Chromosome Location	chr12:40014809-40014810
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr12:40011625-40014816	GM18505	blood:	n/a	n/a
2	ZNF384	chr12:40014579-40015479	GM12878	blood:	n/a	n/a
3	MTA3	chr12:40012433-40014859	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:40011748-40015954	GM12878	blood:	n/a	n/a
5	MAZ	chr12:40013491-40014851	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:40011711-40015724	GM19193	blood:	n/a	n/a
7	POLR2A	chr12:40011618-40015633	GM12891	blood:	n/a	n/a
8	POLR2A	chr12:40011640-40015813	GM18505	blood:	n/a	n/a
9	RCOR1	chr12:40013230-40014876	K562	blood:	n/a	n/a
10	POLR2A	chr12:40011695-40015642	GM12892	blood:	n/a	n/a
11	POLR2A	chr12:40014795-40015569	GM12878	blood:	n/a	n/a
12	MTA3	chr12:40012267-40015651	GM12878	blood:	n/a	n/a
13	RUNX3	chr12:40012904-40014871	GM12878	blood:	n/a	n/a
14	ZNF384	chr12:40014456-40015737	K562	blood:	n/a	n/a
15	POLR2A	chr12:40011695-40015585	GM19099	blood:	n/a	n/a
16	PML	chr12:40012932-40015655	GM12878	blood:	n/a	n/a
17	NFIC	chr12:40011603-40015858	GM12878	blood:	n/a	n/a
18	KAP1	chr12:40013160-40014813	HEK293	kidney:	n/a	n/a
19	POLR2A	chr12:40011409-40015472	GM12878	blood:	n/a	n/a
20	MXI1	chr12:40011430-40015371	SK-N-SH	brain:	n/a	n/a
21	CEBPB	chr12:40013272-40015600	GM12878	blood:	n/a	chr12:40013664-40013672
22	POLR2A	chr12:40012209-40015633	GM12892	blood:	n/a	n/a
23	TBP	chr12:40012430-40016676	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:40012286-40014812	GM12892	blood:	n/a	n/a

No data

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

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:

No data

Variant related genes	Relation type
ABCD2	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	chr12:40006800-40015000	Active TSS	GM12878-XiMat	blood
2	chr12:40009400-40015400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:40009600-40015000	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr12:40009800-40015000	Active TSS	Primary T cells fromperipheralblood	blood
5	chr12:40009800-40015000	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr12:40009800-40015200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:40009800-40015200	Active TSS	Right Atrium	heart
8	chr12:40010800-40015000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:40011800-40015200	Active TSS	Brain Cingulate Gyrus	brain
10	chr12:40012600-40015000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:40012600-40015200	Active TSS	Colonic Mucosa	Colon
12	chr12:40012800-40015000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:40012800-40015200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr12:40013000-40015000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr12:40013000-40015200	Active TSS	Rectal Smooth Muscle	rectum
16	chr12:40013200-40015000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:40013200-40015200	Active TSS	Duodenum Mucosa	Duodenum
18	chr12:40013400-40015000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:40013400-40015000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr12:40014200-40015400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr12:40014200-40015600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr12:40014200-40015600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr12:40014200-40018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:40014400-40015000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:40014400-40015200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:40014400-40015400	Flanking Active TSS	Dnd41	blood
27	chr12:40014400-40015600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr12:40014600-40015000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:40014600-40015000	Flanking Active TSS	Fetal Brain Female	brain
30	chr12:40014600-40015000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:40014600-40015200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:40014600-40015200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:40014600-40015200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:40014800-40015000	Enhancers	Primary B cells from cord blood	blood
35	chr12:40014800-40015000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:40014800-40015000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:40014800-40015000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:40014800-40015000	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr12:40014800-40015000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:40014800-40015000	Active TSS	Brain Anterior Caudate	brain
41	chr12:40014800-40015000	Enhancers	Hela-S3	cervix
42	chr12:40014800-40015200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:40014800-40015200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:40014800-40015200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:40014800-40015200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:40014800-40015200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:40014800-40015200	Enhancers	Brain Germinal Matrix	brain
48	chr12:40014800-40015200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr12:40014800-40015200	Enhancers	Stomach Smooth Muscle	stomach
50	chr12:40014800-40015200	Enhancers	HMEC	breast

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