Variant report

Variant	rs1829980
Chromosome Location	chr2:9837183-9837184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9831651..9835437-chr2:9836987..9840306,5	K562	blood:
2	chr2:9693990..9696540-chr2:9834874..9837637,2	K562	blood:
3	chr2:9828760..9831117-chr2:9835245..9838030,2	K562	blood:

Variant related genes	Relation type
ENSG00000271855	Chromatin interaction
ENSG00000151694	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	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405388	1.00[ASN][1000 genomes]
rs4668635	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669420	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669422	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669423	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669425	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9833000-9838200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:9833200-9838000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:9833400-9838000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:9833400-9839400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:9833600-9838000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:9833600-9842400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:9833600-9842600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:9833800-9838000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:9833800-9838000	Weak transcription	GM12878-XiMat	blood
10	chr2:9833800-9839400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:9833800-9839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:9833800-9839800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:9834000-9837400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:9834000-9837800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:9834000-9839400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:9834000-9839400	Weak transcription	NHLF	lung
17	chr2:9834000-9839400	Weak transcription	Osteobl	bone
18	chr2:9834000-9842800	Weak transcription	HSMMtube	muscle
19	chr2:9834200-9837600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:9834200-9839200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:9834200-9839200	Weak transcription	NHDF-Ad	bronchial
22	chr2:9834200-9839400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:9834200-9839400	Weak transcription	Hela-S3	cervix
24	chr2:9834200-9839400	Weak transcription	HSMM	muscle
25	chr2:9835600-9837200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:9835600-9837200	Enhancers	K562	blood
27	chr2:9835800-9838800	Enhancers	Fetal Intestine Small	intestine
28	chr2:9836000-9837400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:9836000-9837800	Enhancers	NHEK	skin
30	chr2:9836000-9838800	Enhancers	Fetal Intestine Large	intestine
31	chr2:9836200-9837200	Enhancers	A549	lung
32	chr2:9836400-9837600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:9836400-9837600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:9836400-9838000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:9837000-9839200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:9837000-9843000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:9837000-9849600	Weak transcription	Pancreas	Pancrea

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