Variant report

Variant	rs2069073
Chromosome Location	chr2:54715749-54715750
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54711498..54713391-chr2:54714675..54717364,2	K562	blood:
2	chr2:54715431..54717877-chr2:54722811..54726356,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs41426349	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1004645	chr2:54686497-54718440	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv817939	chr2:54693204-54718181	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54707600-54717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:54707800-54720800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:54710600-54725000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:54711200-54718800	Weak transcription	Aorta	Aorta
6	chr2:54711600-54724400	Weak transcription	HSMMtube	muscle
7	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:54711800-54717800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:54711800-54721000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:54712000-54717800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:54712000-54717800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:54712000-54721000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:54712400-54717800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:54712400-54719600	Weak transcription	Lung	lung
16	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:54712600-54716200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:54713800-54717000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:54714000-54715800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:54714000-54715800	Enhancers	NHDF-Ad	bronchial
24	chr2:54714000-54716000	Enhancers	Brain Hippocampus Middle	brain
25	chr2:54714400-54715800	Genic enhancers	HSMM	muscle
26	chr2:54714400-54716000	Genic enhancers	Fetal Lung	lung
27	chr2:54714600-54724200	Weak transcription	A549	lung
28	chr2:54714800-54719400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:54714800-54720000	Enhancers	Fetal Heart	heart
30	chr2:54715200-54715800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:54715200-54715800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:54715200-54715800	Enhancers	Ovary	ovary
33	chr2:54715200-54715800	Enhancers	Right Ventricle	heart
34	chr2:54715200-54715800	Enhancers	Spleen	Spleen
35	chr2:54715200-54715800	Genic enhancers	HepG2	liver
36	chr2:54715200-54715800	Enhancers	NHLF	lung
37	chr2:54715200-54716000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:54715200-54716000	Enhancers	NH-A	brain
39	chr2:54715200-54716000	Enhancers	Osteobl	bone
40	chr2:54715200-54716400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:54715200-54716400	Enhancers	Fetal Muscle Leg	muscle
42	chr2:54715200-54716600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:54715200-54717000	Enhancers	Fetal Brain Male	brain
44	chr2:54715400-54715800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:54715400-54715800	Enhancers	Brain Substantia Nigra	brain
46	chr2:54715400-54715800	Enhancers	Fetal Stomach	stomach
47	chr2:54715400-54716000	Enhancers	Brain Anterior Caudate	brain
48	chr2:54715400-54716000	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:54715400-54716000	Enhancers	Fetal Kidney	kidney
50	chr2:54715400-54716000	Enhancers	Skeletal Muscle Male	skeletal muscle

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