Variant report

Variant	rs544752220
Chromosome Location	chr2:111437623-111437624
allele	A/G
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	MAX	chr2:111436953-111437652	K562	blood:	n/a	chr2:111437521-111437531
2	TAL1	chr2:111435429-111437712	K562	blood:	n/a	n/a
3	POLR2A	chr2:111435163-111437997	K562	blood:	n/a	n/a
4	MAZ	chr2:111435295-111437989	K562	blood:	n/a	chr2:111437521-111437531 chr2:111437890-111437900
5	KAP1	chr2:111435662-111437833	HEK293	kidney:	n/a	n/a
6	POLR2A	chr2:111435205-111437655	K562	blood:	n/a	n/a
7	MAX	chr2:111436942-111437641	K562	blood:	n/a	chr2:111437521-111437531
8	ZMIZ1	chr2:111435040-111437653	K562	blood:	n/a	n/a
9	RCOR1	chr2:111436235-111437632	K562	blood:	n/a	n/a
10	BHLHE40	chr2:111435601-111437823	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111435750..111438683-chr2:111457735..111460578,3	K562	blood:

Variant related genes	Relation type
BUB1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008581	chr2:110826262-111487021	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv2751813	chr2:110834561-111447446	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv994221	chr2:110847086-111453103	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
4	nsv436279	chr2:110850697-111453448	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv435724	chr2:110851622-111453839	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3502444	chr2:110852415-111453435	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3460817	chr2:110852627-111453192	Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv3502445	chr2:110852643-111453216	Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv3460819	chr2:110852686-111453177	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv3460820	chr2:110852686-111453177	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	esv3502446	chr2:110852704-111453148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
12	esv3502447	chr2:110852704-111453148	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv874836	chr2:110983050-111463391	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv874837	chr2:111367727-111463391	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv582696	chr2:111367727-111469138	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv582697	chr2:111386233-111451816	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv582698	chr2:111387676-111452539	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers 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	3 gene(s)	inside rSNPs	diseases
19	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv963697	chr2:111436714-111437992	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111436400-111440800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:111436600-111438600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:111436800-111438000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:111436800-111438600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:111436800-111440600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:111436800-111441000	Weak transcription	Right Atrium	heart
7	chr2:111437000-111437800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:111437000-111437800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:111437000-111437800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:111437000-111438600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr2:111437000-111438600	Enhancers	Fetal Thymus	thymus
12	chr2:111437200-111437800	Flanking Active TSS	K562	blood
13	chr2:111437200-111438000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:111437200-111438000	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:111437200-111438000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr2:111437200-111438000	Enhancers	Ovary	ovary
17	chr2:111437200-111438400	Enhancers	Fetal Lung	lung
18	chr2:111437200-111440600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:111437400-111437800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:111437400-111437800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:111437400-111437800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:111437400-111438000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:111437400-111438000	Enhancers	Lung	lung
24	chr2:111437400-111438400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:111437400-111441000	Weak transcription	Aorta	Aorta
26	chr2:111437600-111437800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr2:111437600-111437800	Bivalent/Poised TSS	HepG2	liver
28	chr2:111437600-111438000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr2:111437600-111438200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr2:111437600-111438400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr2:111437600-111438400	Enhancers	Dnd41	blood
32	chr2:111437600-111440800	Weak transcription	GM12878-XiMat	blood
33	chr2:111437600-111443000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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