Variant report

Variant	rs2428384
Chromosome Location	chr12:120740677-120740678
allele	A/C
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	SIX5	chr12:120739475-120740743	A549	lung:	n/a	chr12:120740109-120740118 chr12:120740073-120740082 chr12:120740107-120740116
2	TCF12	chr12:120739633-120740681	A549	lung:	n/a	chr12:120740443-120740452
3	FOXA2	chr12:120739899-120740695	A549	lung:	n/a	n/a
4	TCF12	chr12:120739926-120740699	ECC-1	luminal epithelium:	n/a	chr12:120740443-120740452
5	FOXA2	chr12:120739921-120740700	A549	lung:	n/a	n/a
6	JUND	chr12:120739718-120740681	SK-N-SH	brain:	n/a	n/a
7	MXI1	chr12:120739848-120741073	IMR90	lung:	n/a	n/a
8	CTCF	chr12:120739525-120740677	A549	lung:	n/a	chr12:120740007-120740023 chr12:120740466-120740474
9	SIN3AK20	chr12:120739664-120740690	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120737630..120743237-chr12:120750628..120756565,17	MCF-7	breast:
2	chr12:120739185..120741546-chr12:120749401..120751491,2	K562	blood:

Variant related genes	Relation type
SIRT4	TF binding region
ENSG00000252659	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17507671	0.80[AFR][1000 genomes]
rs2522139	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
7	esv1799498	chr12:120725939-120745740	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	429 gene(s)	inside rSNPs	diseases
8	esv2763006	chr12:120731346-120750746	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120739400-120740800	Active TSS	A549	lung
2	chr12:120739400-120741000	Active TSS	K562	blood
3	chr12:120739600-120740800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr12:120739600-120740800	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr12:120739600-120740800	Active TSS	HepG2	liver
6	chr12:120739600-120741000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:120739600-120741000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:120739600-120741000	Active TSS	Stomach Smooth Muscle	stomach
9	chr12:120739800-120740800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:120739800-120740800	Active TSS	Fetal Kidney	kidney
11	chr12:120739800-120740800	Active TSS	Right Atrium	heart
12	chr12:120739800-120741000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:120739800-120741000	Active TSS	Brain Anterior Caudate	brain
14	chr12:120739800-120741000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:120739800-120741000	Active TSS	Ovary	ovary
16	chr12:120739800-120741000	Active TSS	Psoas Muscle	Psoas
17	chr12:120740000-120740800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:120740000-120740800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr12:120740000-120740800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:120740000-120740800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:120740000-120740800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:120740000-120740800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr12:120740000-120740800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:120740000-120740800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:120740000-120740800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr12:120740000-120740800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr12:120740000-120740800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr12:120740000-120740800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr12:120740000-120740800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:120740000-120740800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:120740000-120740800	Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr12:120740000-120740800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:120740000-120740800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr12:120740000-120740800	Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:120740000-120740800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:120740000-120740800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:120740000-120740800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:120740000-120740800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:120740000-120740800	Active TSS	Brain Cingulate Gyrus	brain
40	chr12:120740000-120740800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:120740000-120740800	Active TSS	Colonic Mucosa	Colon
42	chr12:120740000-120740800	Active TSS	Colon Smooth Muscle	Colon
43	chr12:120740000-120740800	Active TSS	Duodenum Mucosa	Duodenum
44	chr12:120740000-120740800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr12:120740000-120740800	Active TSS	Esophagus	oesophagus
46	chr12:120740000-120740800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr12:120740000-120740800	Active TSS	Fetal Heart	heart
48	chr12:120740000-120740800	Active TSS	Fetal Intestine Large	intestine
49	chr12:120740000-120740800	Active TSS	Fetal Intestine Small	intestine
50	chr12:120740000-120740800	Active TSS	Fetal Lung	lung

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