Variant report

Variant	rs893348
Chromosome Location	chr2:11882654-11882655
allele	A/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	FOS	chr2:11882457-11882775	MCF10A-Er-Src	breast:	n/a	chr2:11882641-11882652 chr2:11882644-11882655 chr2:11882643-11882651 chr2:11882641-11882652 chr2:11882641-11882653
2	FOS	chr2:11882526-11882726	MCF10A-Er-Src	breast:	n/a	chr2:11882641-11882652 chr2:11882644-11882655 chr2:11882643-11882651 chr2:11882641-11882652 chr2:11882641-11882653
3	JUND	chr2:11882453-11882871	K562	blood:	n/a	chr2:11882641-11882652 chr2:11882644-11882655 chr2:11882643-11882651 chr2:11882641-11882653
4	E2F6	chr2:11882627-11883444	K562	blood:	n/a	n/a
5	BCL3	chr2:11882447-11882803	GM12878	blood:	n/a	chr2:11882642-11882651
6	ZNF263	chr2:11882135-11882736	HEK293-T-REx	kidney:	n/a	n/a
7	NR2F2	chr2:11882408-11882796	K562	blood:	n/a	n/a
8	FOS	chr2:11882476-11882670	MCF10A-Er-Src	breast:	n/a	chr2:11882641-11882652 chr2:11882644-11882655 chr2:11882643-11882651 chr2:11882641-11882652 chr2:11882641-11882653
9	CBX3	chr2:11882466-11883634	K562	blood:	n/a	n/a
10	FOSL2	chr2:11882412-11882883	A549	lung:	n/a	chr2:11882641-11882652 chr2:11882644-11882655 chr2:11882643-11882651 chr2:11882641-11882653
11	JUN	chr2:11882263-11884893	K562	blood:	n/a	chr2:11884384-11884396 chr2:11884385-11884395 chr2:11882641-11882652 chr2:11884385-11884395 chr2:11884386-11884394 chr2:11882644-11882655 chr2:11882643-11882651 chr2:11883863-11883874 chr2:11882641-11882653 chr2:11884385-11884395
12	FOS	chr2:11882426-11882816	HUVEC	blood vessel:	n/a	chr2:11882641-11882652 chr2:11882644-11882655 chr2:11882643-11882651 chr2:11882641-11882652 chr2:11882641-11882653
13	PBX3	chr2:11882492-11882683	GM12878	blood:	n/a	n/a
14	NR2F2	chr2:11882284-11882946	K562	blood:	n/a	n/a
15	MAX	chr2:11882465-11883478	K562	blood:	n/a	chr2:11882643-11882652 chr2:11882967-11882977

No.	Distal block	Cell Line	Cell type
1	chr2:11881178..11885762-chr2:11886043..11889477,7	MCF-7	breast:
2	chr2:11882438..11884776-chr2:11910789..11914613,4	K562	blood:
3	chr2:11882616..11883484-chr2:11891634..11892366,2	K562	blood:
4	chr2:11882508..11884186-chr2:11887506..11889026,2	MCF-7	breast:
5	chr2:11604833..11608003-chr2:11882353..11886330,4	K562	blood:
6	chr2:11882411..11885202-chr2:11902345..11904670,2	K562	blood:
7	chr10:32078085..32079585-chr2:11880425..11883011,2	MCF-7	breast:

Variant related genes	Relation type
LPIN1	TF binding region
ENSG00000134324	Chromatin interaction
ENSG00000169016	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73183110	1.00[AMR][1000 genomes]
rs73183192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer 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 miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11875200-11883000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:11877000-11882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11877000-11883400	Weak transcription	Right Atrium	heart
4	chr2:11878800-11882800	Weak transcription	Fetal Thymus	thymus
5	chr2:11879000-11883400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:11879000-11883400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:11879000-11883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:11879000-11883600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:11879000-11883800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:11879200-11883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:11879200-11883000	Weak transcription	Psoas Muscle	Psoas
12	chr2:11879200-11883200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:11879200-11883400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:11879200-11883400	Weak transcription	Stomach Mucosa	stomach
15	chr2:11879200-11883600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:11879200-11883600	Weak transcription	Ovary	ovary
17	chr2:11879200-11883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:11879200-11883800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:11879200-11883800	Weak transcription	Fetal Lung	lung
20	chr2:11879200-11883800	Weak transcription	Right Ventricle	heart
21	chr2:11879200-11884000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:11879200-11884400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:11879400-11882800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:11879400-11882800	Weak transcription	Pancreas	Pancrea
25	chr2:11879400-11883200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:11879400-11883400	Weak transcription	Esophagus	oesophagus
27	chr2:11879400-11883600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:11879400-11883800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:11879400-11883800	Weak transcription	Brain Anterior Caudate	brain
30	chr2:11879400-11883800	Weak transcription	Left Ventricle	heart
31	chr2:11879400-11884000	Weak transcription	Adipose Nuclei	Adipose
32	chr2:11879600-11882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:11879600-11882800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:11879600-11883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:11879600-11883200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:11879600-11883600	Weak transcription	Colonic Mucosa	Colon
37	chr2:11879600-11883800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:11879600-11884000	Weak transcription	Osteobl	bone
39	chr2:11879800-11883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:11879800-11883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:11879800-11883800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:11879800-11884400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:11880000-11883800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:11880400-11883600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:11881400-11883200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:11881600-11884800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:11882000-11883400	Enhancers	K562	blood
48	chr2:11882000-11883600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:11882000-11884200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:11882000-11884400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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