Variant report

Variant	rs41444751
Chromosome Location	chr2:46941227-46941228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46930002..46931505-chr2:46938996..46941968,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs41468249	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41481545	1.00[AMR][1000 genomes]
rs41533648	1.00[AMR][1000 genomes]
rs59115499	1.00[AMR][1000 genomes]
rs60426444	1.00[AMR][1000 genomes]
rs6715737	1.00[AMR][1000 genomes]
rs72881382	1.00[AMR][1000 genomes]
rs72881388	1.00[AMR][1000 genomes]
rs72881392	1.00[AMR][1000 genomes]
rs72881398	1.00[AMR][1000 genomes]
rs72882805	1.00[AMR][1000 genomes]
rs72882817	1.00[AMR][1000 genomes]
rs72882819	1.00[AMR][1000 genomes]
rs72882829	1.00[AMR][1000 genomes]
rs7598569	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46928000-46943600	Weak transcription	Thymus	Thymus
2	chr2:46928600-46944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:46928800-46946200	Weak transcription	NHEK	skin
4	chr2:46932600-46944200	Weak transcription	Aorta	Aorta
5	chr2:46933000-46943600	Weak transcription	Left Ventricle	heart
6	chr2:46934000-46944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:46934000-46947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:46934400-46943600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:46934600-46946400	Weak transcription	HSMM	muscle
10	chr2:46935200-46944000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:46936000-46941400	Weak transcription	Liver	Liver
12	chr2:46936000-46945000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:46936400-46942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:46936400-46943600	Weak transcription	Pancreas	Pancrea
15	chr2:46936600-46943600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:46936800-46942800	Weak transcription	NH-A	brain
17	chr2:46936800-46946200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:46937000-46943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:46937000-46944000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:46937000-46944200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:46937600-46943600	Weak transcription	Ovary	ovary
22	chr2:46938600-46942600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:46938600-46943600	Weak transcription	NHLF	lung
24	chr2:46939000-46944000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:46940000-46943800	Weak transcription	NHDF-Ad	bronchial
26	chr2:46940400-46944000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:46940600-46941400	Weak transcription	Psoas Muscle	Psoas
28	chr2:46940600-46943600	Weak transcription	Fetal Stomach	stomach
29	chr2:46940600-46946400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:46941200-46941400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:46941200-46941400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:46941200-46941400	Genic enhancers	Osteobl	bone
33	chr2:46941200-46944800	ZNF genes & repeats	A549	lung
34	chr2:46941200-46945400	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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