Variant report

Variant	rs554964063
Chromosome Location	chr2:40573585-40573586
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40569259..40571407-chr2:40573018..40575519,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873914	chr2:40573350-40586022	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:40566200-40575600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:40568600-40575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:40569800-40573600	Enhancers	Osteobl	bone
7	chr2:40570200-40575600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:40570400-40574600	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:40570400-40576800	Enhancers	NHDF-Ad	bronchial
10	chr2:40570600-40574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:40571000-40573800	Enhancers	Fetal Stomach	stomach
12	chr2:40571000-40577000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:40571400-40574600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr2:40571400-40576000	Enhancers	Right Atrium	heart
15	chr2:40571400-40576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:40571600-40573600	Weak transcription	NH-A	brain
17	chr2:40571600-40575600	Weak transcription	HMEC	breast
18	chr2:40571600-40582600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:40571800-40573600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:40571800-40574600	Enhancers	Right Ventricle	heart
21	chr2:40572400-40573600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:40573000-40573600	Weak transcription	Left Ventricle	heart
23	chr2:40573000-40574400	Flanking Active TSS	Fetal Heart	heart
24	chr2:40573200-40574000	Enhancers	Colon Smooth Muscle	Colon
25	chr2:40573200-40574800	Enhancers	Dnd41	blood
26	chr2:40573200-40577000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:40573400-40573600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:40573400-40573600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr2:40573400-40573800	Enhancers	Aorta	Aorta
30	chr2:40573400-40574000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:40573400-40574200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:40573400-40574400	Enhancers	Fetal Muscle Leg	muscle
33	chr2:40573400-40574600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:40573400-40574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:40573400-40574600	Enhancers	Adipose Nuclei	Adipose
36	chr2:40573400-40574600	Enhancers	Ovary	ovary
37	chr2:40573400-40574600	Enhancers	HSMMtube	muscle
38	chr2:40573400-40576800	Enhancers	NHLF	lung
39	chr2:40573400-40577200	Enhancers	HSMM	muscle

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