Variant report

Variant	rs2049429
Chromosome Location	chr2:9820799-9820800
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9815419..9817026-chr2:9820698..9822791,2	K562	blood:
2	chr2:9819937..9821738-chr2:9829641..9832067,2	MCF-7	breast:
3	chr2:9770904..9772891-chr2:9820670..9822823,2	K562	blood:
4	chr2:9814066..9817606-chr2:9819607..9826005,6	MCF-7	breast:
5	chr2:9819036..9822364-chr2:9822409..9826364,4	K562	blood:
6	chr2:9814367..9816792-chr2:9820023..9823010,2	K562	blood:

Variant related genes	Relation type
ENSG00000244260	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2049431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73164226	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	70 gene(s)	inside rSNPs	diseases
2	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr2:9816600-9820800	Weak transcription	HUVEC	blood vessel
2	chr2:9816600-9821200	Weak transcription	HSMMtube	muscle
3	chr2:9817000-9820800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:9817000-9820800	Weak transcription	NHLF	lung
5	chr2:9817000-9821400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:9817000-9821400	Weak transcription	A549	lung
7	chr2:9817200-9821000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:9817200-9821000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:9817200-9821000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:9817400-9821000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:9819000-9821800	Enhancers	K562	blood
12	chr2:9819200-9823000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:9819400-9820800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:9819400-9821800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:9819400-9822200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:9819600-9821400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:9819600-9822400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:9819800-9821000	Weak transcription	Placenta	Placenta
19	chr2:9820000-9821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:9820200-9822600	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:9820400-9822000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:9820400-9822000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:9820600-9821800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:9820600-9822000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:9820600-9822200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:9820600-9822200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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