Variant report

Variant	rs139747478
Chromosome Location	chr12:124119540-124119541
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124117806-124119812	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:124118989-124119782	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:124117702-124120166	PFSK-1	brain:	n/a	n/a
4	MXI1	chr12:124117527-124119605	IMR90	lung:	n/a	n/a
5	POLR2A	chr12:124117851-124119795	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:124119470-124119752	K562	blood:	n/a	n/a
7	WRNIP1	chr12:124118026-124119703	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:124118990-124119943	H1-hESC	embryonic stem cell:	n/a	n/a
9	RUNX3	chr12:124119467-124119673	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:124117595-124119732	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr12:124117775-124119926	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:124117744-124119687	K562	blood:	n/a	n/a
13	POLR2A	chr12:124119007-124119858	GM12891	blood:	n/a	n/a
14	POLR2A	chr12:124117798-124119823	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr12:124117567-124119816	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr12:124119508-124119773	ECC-1	luminal epithelium:	n/a	n/a
17	HCFC1	chr12:124117557-124119744	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:124117751-124119836	GM12892	blood:	n/a	n/a
19	POLR2A	chr12:124118777-124119858	GM12892	blood:	n/a	n/a
20	STAT3	chr12:124119438-124119638	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:124118927-124119768	K562	blood:	n/a	n/a
22	POLR2A	chr12:124117822-124119952	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr12:124117681-124120549	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:124119415-124119752	K562	blood:	n/a	n/a
25	POLR2A	chr12:124117817-124119623	GM18505	blood:	n/a	n/a
26	HEY1	chr12:124117778-124119934	K562	blood:	n/a	chr12:124118165-124118180
27	POLR2A	chr12:124118984-124119817	GM12891	blood:	n/a	n/a
28	POLR2A	chr12:124117769-124119805	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:124117923-124119814	K562	blood:	n/a	n/a
30	POLR2A	chr12:124118775-124119611	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr12:124117809-124119792	K562	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
2	chr12:124085449..124088387-chr12:124115552..124120028,6	MCF-7	breast:
3	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
4	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
5	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
6	chr12:124068831..124072178-chr12:124116882..124120107,5	K562	blood:
7	chr12:124067553..124070106-chr12:124116767..124119854,4	MCF-7	breast:
8	chr12:124105722..124107597-chr12:124119086..124122015,4	K562	blood:
9	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
10	chr12:123875063..123876805-chr12:124118427..124120711,2	K562	blood:
11	chr12:124118119..124120182-chr12:124196891..124198426,2	K562	blood:
12	chr12:123866683..123868660-chr12:124118535..124120956,2	K562	blood:
13	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
14	chr12:124119318..124121767-chr12:124194183..124197056,2	MCF-7	breast:
15	chr1:183896810..183898310-chr12:124119036..124121731,2	K562	blood:
16	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:
17	chr12:124085496..124088026-chr12:124116630..124119648,4	MCF-7	breast:
18	chr12:124117107..124120837-chr12:124123304..124127842,5	MCF-7	breast:
19	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:
20	chr12:124086664..124088557-chr12:124117448..124120033,4	K562	blood:
21	chr12:123847883..123849879-chr12:124118467..124120545,3	K562	blood:
22	chr12:124119450..124122240-chr12:124131405..124134508,3	MCF-7	breast:

No data

Variant related genes	Relation type
EIF2B1	TF binding region
GTF2H3	TF binding region
ENSG00000139697	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000119242	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv35148	chr12:124119120-124196120	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv2756516	chr12:124119120-124196120	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1053101	chr12:124119155-124172731	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124117400-124119600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:124117400-124119800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:124118400-124119800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr12:124118600-124119600	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr12:124118600-124119800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:124118800-124119600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:124118800-124119600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:124118800-124119600	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr12:124118800-124119600	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr12:124118800-124119600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr12:124118800-124119600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr12:124118800-124119600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr12:124118800-124119600	Flanking Active TSS	NHLF	lung
14	chr12:124118800-124119600	Flanking Active TSS	Osteobl	bone
15	chr12:124118800-124119800	Enhancers	Small Intestine	intestine
16	chr12:124118800-124119800	Enhancers	Spleen	Spleen
17	chr12:124119000-124119600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:124119000-124119600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr12:124119000-124119600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:124119000-124119600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:124119000-124119600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:124119000-124119600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:124119000-124119600	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:124119000-124119600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:124119000-124119600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:124119000-124119600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr12:124119000-124119600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:124119000-124119600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr12:124119000-124119600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:124119000-124119600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:124119000-124119600	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr12:124119000-124119600	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr12:124119000-124119600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr12:124119000-124119600	Flanking Active TSS	HMEC	breast
35	chr12:124119000-124119600	Flanking Active TSS	HSMM	muscle
36	chr12:124119000-124119600	Flanking Active TSS	HUVEC	blood vessel
37	chr12:124119000-124119600	Flanking Active TSS	NH-A	brain
38	chr12:124119000-124119800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:124119000-124119800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:124119000-124119800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:124119000-124119800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:124119000-124119800	Enhancers	Left Ventricle	heart
43	chr12:124119000-124119800	Flanking Active TSS	Dnd41	blood
44	chr12:124119000-124119800	Flanking Active TSS	Hela-S3	cervix
45	chr12:124119200-124119600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:124119200-124119600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:124119200-124119600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:124119200-124119600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:124119200-124119600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:124119200-124119600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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