Variant report

Variant	rs386645144
Chromosome Location	chr2:38872065-38872066
allele	AC/GT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38828500..38834187-chr2:38868147..38872142,7	K562	blood:
2	chr2:38865694..38869051-chr2:38869356..38872589,6	K562	blood:
3	chr2:38862386..38864039-chr2:38870726..38872820,2	K562	blood:
4	chr2:38825926..38832179-chr2:38868147..38876106,18	K562	blood:
5	chr2:38822264..38824489-chr2:38870337..38872562,2	K562	blood:
6	chr2:38838640..38841229-chr2:38869315..38872620,3	K562	blood:
7	chr2:38856981..38859644-chr2:38870744..38873095,2	K562	blood:
8	chr2:38850061..38855322-chr2:38870938..38874508,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235586	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
5	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
6	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
7	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
8	esv3457549	chr2:38871768-38882574	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3457553	chr2:38871805-38882546	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3457551	chr2:38871805-38882561	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3457550	chr2:38871849-38882546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv14023	chr2:38871950-38882521	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38869600-38872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:38870200-38872200	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:38870400-38872200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:38870600-38872400	Enhancers	Thymus	Thymus
5	chr2:38870800-38877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:38870800-38881600	Weak transcription	Spleen	Spleen
7	chr2:38871200-38872200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:38871200-38872200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:38871200-38874400	Weak transcription	HepG2	liver
10	chr2:38871200-38880800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:38871400-38872200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:38871400-38872200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:38871400-38872200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:38871400-38872200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:38871400-38872200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:38871400-38872200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:38871400-38872200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:38871400-38872200	Enhancers	Fetal Thymus	thymus
19	chr2:38871400-38872400	Enhancers	Dnd41	blood
20	chr2:38871400-38873400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:38871600-38875000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:38871800-38872200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr2:38871800-38875000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:38872000-38873200	Weak transcription	K562	blood
25	chr2:38872000-38875000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:38872000-38875200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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