Variant report

Variant	rs7569448
Chromosome Location	chr2:9834465-9834466
allele	G/T
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	chr2:9769691..9771995-chr2:9834079..9836573,2	K562	blood:
3	chr2:9695765..9698212-chr2:9833271..9835203,2	K562	blood:
4	chr2:9765530..9767539-chr2:9832292..9835222,2	K562	blood:
5	chr2:9823750..9829762-chr2:9830969..9835098,7	K562	blood:

Variant related genes	Relation type
ENSG00000151694	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000271855	Chromatin interaction

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

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

rs_ID	r²[population]
rs10495567	0.83[EUR][1000 genomes]
rs4669420	0.83[EUR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9831800-9835600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:9832800-9835000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:9833000-9834800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:9833000-9835000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:9833000-9838200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:9833200-9835000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:9833200-9835000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:9833200-9835000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:9833200-9835800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:9833200-9836000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:9833200-9838000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:9833400-9836000	Weak transcription	Fetal Intestine Large	intestine
13	chr2:9833400-9836200	Weak transcription	A549	lung
14	chr2:9833400-9838000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:9833400-9839400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:9833600-9834800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:9833600-9836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:9833600-9838000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:9833600-9842400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:9833600-9842600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:9833800-9835000	Weak transcription	HMEC	breast
22	chr2:9833800-9835000	Weak transcription	K562	blood
23	chr2:9833800-9836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:9833800-9836000	Weak transcription	NHEK	skin
25	chr2:9833800-9838000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:9833800-9838000	Weak transcription	GM12878-XiMat	blood
27	chr2:9833800-9839400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:9833800-9839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:9833800-9839800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:9834000-9836000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:9834000-9837400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:9834000-9837800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:9834000-9839400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:9834000-9839400	Weak transcription	NHLF	lung
35	chr2:9834000-9839400	Weak transcription	Osteobl	bone
36	chr2:9834000-9842800	Weak transcription	HSMMtube	muscle
37	chr2:9834200-9835000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:9834200-9835800	Weak transcription	Psoas Muscle	Psoas
39	chr2:9834200-9836000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:9834200-9836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:9834200-9836000	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:9834200-9836000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:9834200-9836200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:9834200-9837600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr2:9834200-9839200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:9834200-9839200	Weak transcription	NHDF-Ad	bronchial
47	chr2:9834200-9839400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:9834200-9839400	Weak transcription	Hela-S3	cervix
49	chr2:9834200-9839400	Weak transcription	HSMM	muscle

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