Variant report

Variant	rs7139342
Chromosome Location	chr12:57639190-57639191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:57639084-57639274	K562	blood:	n/a	n/a
2	TEAD4	chr12:57638887-57639327	K562	blood:	n/a	n/a
3	CEBPB	chr12:57639127-57639250	HepG2	liver:	n/a	n/a
4	JUND	chr12:57639075-57639269	K562	blood:	n/a	n/a
5	TAL1	chr12:57639008-57639262	K562	blood:	n/a	n/a
6	CEBPB	chr12:57638943-57639293	K562	blood:	n/a	n/a
7	CEBPB	chr12:57639122-57639323	IMR90	lung:	n/a	n/a
8	NFIC	chr12:57638756-57639492	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr12:57638649-57639326	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr12:57639056-57639267	K562	blood:	n/a	n/a
11	MYC	chr12:57639069-57639221	K562	blood:	n/a	n/a
12	NFIC	chr12:57638982-57639226	HepG2	liver:	n/a	n/a
13	ZNF384	chr12:57638947-57639340	K562	blood:	n/a	n/a
14	CEBPB	chr12:57638995-57639301	MCF-7	breast:	n/a	n/a
15	POLR2A	chr12:57638783-57639303	HL-60	blood:	n/a	n/a
16	CEBPB	chr12:57639063-57639275	A549	lung:	n/a	n/a
17	EGR1	chr12:57639071-57639298	K562	blood:	n/a	n/a
18	CEBPB	chr12:57638919-57639342	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr12:57639050-57639334	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57635862..57639345-chr12:57850429..57852757,3	K562	blood:
2	chr12:57637439..57640284-chr12:57642882..57644600,2	MCF-7	breast:
3	chr12:57636983..57640050-chr12:57648004..57652445,5	K562	blood:
4	chr12:57636584..57639625-chr12:57824200..57826164,3	K562	blood:
5	chr12:57635469..57640213-chr12:57641305..57644273,5	K562	blood:

No data

Variant related genes	Relation type
NDUFA4L2	TF binding region
ENSG00000258001	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000185482	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10783817	0.88[AFR][1000 genomes]
rs6421187	0.88[AFR][1000 genomes]
rs7488256	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57635800-57642600	Weak transcription	HSMM	muscle
2	chr12:57637200-57642600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:57637200-57647400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:57637200-57648400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:57637400-57647200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:57637600-57639200	Enhancers	Liver	Liver
7	chr12:57637600-57644800	Weak transcription	NHLF	lung
8	chr12:57637600-57648400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:57637600-57648400	Weak transcription	Lung	lung
10	chr12:57637600-57649000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:57637600-57649600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:57637600-57651200	Weak transcription	NHDF-Ad	bronchial
13	chr12:57637600-57654200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:57637800-57645800	Weak transcription	Osteobl	bone
15	chr12:57637800-57648400	Weak transcription	Spleen	Spleen
16	chr12:57637800-57649800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:57638000-57639200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:57638000-57640600	Weak transcription	Psoas Muscle	Psoas
19	chr12:57638000-57641000	Enhancers	K562	blood
20	chr12:57638000-57642400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:57638000-57642400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:57638000-57647000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:57638000-57647200	Weak transcription	Fetal Brain Female	brain
24	chr12:57638000-57648200	Weak transcription	Primary T cells from cord blood	blood
25	chr12:57638000-57648400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:57638000-57648400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:57638000-57648400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:57638000-57648400	Weak transcription	Brain Anterior Caudate	brain
29	chr12:57638000-57648400	Weak transcription	Pancreas	Pancrea
30	chr12:57638000-57649000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:57638000-57649000	Weak transcription	Dnd41	blood
32	chr12:57638000-57649400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:57638000-57649400	Weak transcription	Fetal Heart	heart
34	chr12:57638000-57649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:57638000-57649600	Weak transcription	Right Ventricle	heart
36	chr12:57638000-57651200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:57638000-57651200	Weak transcription	Fetal Brain Male	brain
38	chr12:57638200-57642600	Weak transcription	Thymus	Thymus
39	chr12:57638200-57648000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:57638200-57648400	Weak transcription	Colonic Mucosa	Colon
41	chr12:57638400-57639200	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr12:57638400-57639600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:57638400-57640400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:57638400-57640800	Weak transcription	GM12878-XiMat	blood
45	chr12:57638400-57648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:57638600-57639200	Genic enhancers	Fetal Muscle Leg	muscle
47	chr12:57638600-57643000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:57638600-57649600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:57638800-57639200	Enhancers	Placenta	Placenta
50	chr12:57638800-57639400	Weak transcription	A549	lung

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