Variant report

Variant	rs1370389
Chromosome Location	chr2:64320235-64320236
allele	G/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	CUX1	chr2:64319555-64320308	GM12878	blood:	n/a	n/a
2	PML	chr2:64319374-64320329	GM12878	blood:	n/a	n/a
3	NFATC1	chr2:64319495-64320291	GM12878	blood:	n/a	n/a
4	NFIC	chr2:64319371-64320365	GM12878	blood:	n/a	n/a
5	PBX3	chr2:64319971-64320374	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64318344..64321014-chr2:64321909..64324036,3	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PELI1	hsa-miR-374b-5p	chr2:64320214-64320239

Variant related genes	Relation type
ENSG00000228079	TF binding region
PELI1	miRNA target site

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv961783	chr2:64320136-64321949	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv961784	chr2:64320136-64323699	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64304200-64321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:64309600-64320800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:64311400-64321800	Weak transcription	Small Intestine	intestine
4	chr2:64311800-64321200	Weak transcription	K562	blood
5	chr2:64311800-64321800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:64311800-64321800	Weak transcription	Brain Germinal Matrix	brain
7	chr2:64312800-64321200	Weak transcription	Psoas Muscle	Psoas
8	chr2:64313200-64321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:64313200-64321400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:64313200-64321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:64313200-64321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:64313400-64321800	Weak transcription	Brain Angular Gyrus	brain
14	chr2:64313400-64321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:64313600-64320600	Weak transcription	Fetal Lung	lung
16	chr2:64313600-64321800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:64313600-64323000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:64313800-64321800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:64313800-64321800	Weak transcription	NH-A	brain
20	chr2:64314200-64321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:64314200-64321800	Weak transcription	Pancreas	Pancrea
22	chr2:64314400-64321200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:64314400-64325000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:64315000-64321800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:64315200-64321800	Weak transcription	Stomach Mucosa	stomach
26	chr2:64315400-64321800	Weak transcription	HSMMtube	muscle
27	chr2:64315600-64320400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:64315600-64320600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:64315600-64321800	Weak transcription	Brain Anterior Caudate	brain
30	chr2:64315600-64321800	Weak transcription	Brain Substantia Nigra	brain
31	chr2:64315600-64322000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:64316000-64321800	Weak transcription	Aorta	Aorta
33	chr2:64316000-64321800	Weak transcription	HepG2	liver
34	chr2:64316000-64321800	Weak transcription	HMEC	breast
35	chr2:64316200-64321800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:64316200-64323200	Weak transcription	Fetal Kidney	kidney
37	chr2:64316400-64320600	Weak transcription	Colonic Mucosa	Colon
38	chr2:64316600-64324800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:64316800-64321800	Weak transcription	Gastric	stomach
40	chr2:64316800-64321800	Weak transcription	Left Ventricle	heart
41	chr2:64316800-64321800	Weak transcription	Dnd41	blood
42	chr2:64316800-64326200	Strong transcription	Primary T cells from cord blood	blood
43	chr2:64316800-64327400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:64316800-64327800	Strong transcription	Fetal Thymus	thymus
45	chr2:64317000-64320600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:64317000-64321800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:64317000-64321800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:64317000-64321800	Weak transcription	Esophagus	oesophagus
49	chr2:64317000-64321800	Weak transcription	Ovary	ovary
50	chr2:64317000-64322000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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