Variant report

Variant	rs2049431
Chromosome Location	chr2:9819812-9819813
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9814066..9817606-chr2:9819607..9826005,6	MCF-7	breast:
2	chr2:9819036..9822364-chr2:9822409..9826364,4	K562	blood:
3	chr2:9818042..9820407-chr2:9822826..9824372,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244260	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10495567	1.00[CHB][hapmap]
rs11676974	1.00[CHB][hapmap]
rs2049429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669465	1.00[CHB][hapmap]
rs4669466	1.00[CHB][hapmap]
rs73164226	1.00[ASN][1000 genomes]
rs908292	1.00[CHB][hapmap]

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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9816200-9820600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:9816600-9820400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:9816600-9820800	Weak transcription	HUVEC	blood vessel
4	chr2:9816600-9821200	Weak transcription	HSMMtube	muscle
5	chr2:9817000-9820800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:9817000-9820800	Weak transcription	NHLF	lung
7	chr2:9817000-9821400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:9817000-9821400	Weak transcription	A549	lung
9	chr2:9817200-9821000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:9817200-9821000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:9817200-9821000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:9817400-9821000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:9819000-9821800	Enhancers	K562	blood
14	chr2:9819200-9823000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:9819400-9820800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:9819400-9821800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:9819400-9822200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:9819600-9820000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:9819600-9820400	Enhancers	HMEC	breast
20	chr2:9819600-9820600	Enhancers	NHEK	skin
21	chr2:9819600-9821400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:9819600-9822400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:9819800-9820000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:9819800-9820400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:9819800-9821000	Weak transcription	Placenta	Placenta

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