Variant report

Variant	rs544638210
Chromosome Location	chr2:38861817-38861818
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38860089..38863428-chr2:38976891..38979875,4	K562	blood:
2	chr2:38853457..38857426-chr2:38859030..38862948,5	K562	blood:
3	chr2:38861742..38863889-chr2:38865469..38867826,3	K562	blood:
4	chr2:38841845..38846119-chr2:38859783..38862280,3	K562	blood:
5	chr2:38829210..38832278-chr2:38859055..38864456,6	K562	blood:
6	chr2:38826787..38832652-chr2:38859055..38867252,11	K562	blood:
7	chr2:38861742..38863266-chr2:38865469..38867826,2	K562	blood:

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000235586	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000143889	Chromatin interaction

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

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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats 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 target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
6	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv2762495	chr2:38861095-38886391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38861000-38862200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:38861000-38862200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:38861000-38862400	Enhancers	Dnd41	blood
5	chr2:38861000-38862600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:38861000-38862600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:38861000-38862600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:38861000-38862800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:38861000-38863600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:38861200-38862000	Enhancers	Primary T cells from cord blood	blood
11	chr2:38861200-38862000	Enhancers	Hela-S3	cervix
12	chr2:38861200-38862000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:38861200-38862600	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:38861200-38862800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:38861400-38862200	Enhancers	HepG2	liver
16	chr2:38861400-38862800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:38861400-38863000	Enhancers	K562	blood
18	chr2:38861600-38862000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:38861600-38862000	Active TSS	GM12878-XiMat	blood
20	chr2:38861600-38862200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:38861600-38862200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr2:38861800-38862000	Enhancers	Thymus	Thymus
23	chr2:38861800-38862600	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:38861800-38862600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:38861800-38862600	Enhancers	Fetal Thymus	thymus

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