Variant report

Variant	rs565211782
Chromosome Location	chr2:145081132-145081133
allele	C/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	EBF1	chr2:145081066-145081283	GM12878	blood:	n/a	chr2:145081171-145081182

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145072980..145076311-chr2:145078832..145082653,3	K562	blood:
2	chr2:145080448..145086688-chr2:145086871..145092825,10	K562	blood:

Variant related genes	Relation type
GTDC1	TF binding region
ENSG00000121964	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	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1004937	chr2:145079535-145159021	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145069000-145082000	Weak transcription	Fetal Heart	heart
2	chr2:145070800-145088000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:145074200-145081400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:145075000-145088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:145075200-145082400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:145076800-145081400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:145078400-145081600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:145078400-145082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:145078400-145082000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:145078400-145082600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:145078400-145084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:145078400-145088600	Weak transcription	Ovary	ovary
13	chr2:145078400-145088600	Weak transcription	Right Ventricle	heart
14	chr2:145078400-145089200	Weak transcription	Spleen	Spleen
15	chr2:145078600-145081200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:145078600-145081400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:145078600-145081600	ZNF genes & repeats	GM12878-XiMat	blood
18	chr2:145078600-145082000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:145078600-145082400	Weak transcription	Brain Substantia Nigra	brain
20	chr2:145078600-145082600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:145078600-145085400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:145078600-145088400	Weak transcription	HSMM	muscle
23	chr2:145078800-145082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:145078800-145082000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:145078800-145082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:145078800-145082200	Weak transcription	Primary T cells from cord blood	blood
27	chr2:145078800-145082600	Weak transcription	Osteobl	bone
28	chr2:145078800-145085200	Weak transcription	Psoas Muscle	Psoas
29	chr2:145078800-145088600	Weak transcription	HSMMtube	muscle
30	chr2:145079000-145081200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:145079000-145081400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:145079000-145081400	Weak transcription	NHEK	skin
33	chr2:145079000-145082000	Weak transcription	HMEC	breast
34	chr2:145079000-145082200	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:145079000-145082400	Weak transcription	Brain Angular Gyrus	brain
36	chr2:145079000-145082600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:145079000-145082600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:145079000-145088600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:145079200-145081800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:145079400-145082000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:145079600-145082800	Weak transcription	Right Atrium	heart
42	chr2:145079800-145082400	Weak transcription	Dnd41	blood
43	chr2:145079800-145082800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:145080400-145081600	ZNF genes & repeats	NHDF-Ad	bronchial
45	chr2:145080400-145088200	Weak transcription	Brain Germinal Matrix	brain
46	chr2:145080800-145081200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr2:145080800-145081400	ZNF genes & repeats	K562	blood
48	chr2:145080800-145082000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:145080800-145083000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:145080800-145089000	Weak transcription	Lung	lung

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