Variant report

Variant	rs73164248
Chromosome Location	chr2:9831696-9831697
allele	C/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	chr2:9819937..9821738-chr2:9829641..9832067,2	MCF-7	breast:
3	chr2:9825009..9828236-chr2:9829697..9833325,6	K562	blood:
4	chr2:9830401..9832024-chr2:9844409..9846965,2	K562	blood:
5	chr2:9830906..9832831-chr2:9861895..9863810,2	K562	blood:
6	chr2:9823750..9829762-chr2:9830969..9835098,7	K562	blood:

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

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

rs_ID	r²[population]
rs57786001	1.00[AMR][1000 genomes]
rs58542786	1.00[AMR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9821800-9833000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:9826800-9832800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:9829600-9831800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:9830200-9831800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:9830200-9832400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:9830400-9832600	Weak transcription	NHLF	lung
7	chr2:9830400-9834200	Enhancers	Fetal Muscle Leg	muscle
8	chr2:9830800-9832200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:9830800-9832200	Weak transcription	HSMM	muscle
10	chr2:9830800-9832600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:9830800-9832600	Weak transcription	Esophagus	oesophagus
12	chr2:9830800-9832600	Weak transcription	Placenta	Placenta
13	chr2:9830800-9832600	Weak transcription	GM12878-XiMat	blood
14	chr2:9830800-9832800	Weak transcription	Fetal Thymus	thymus
15	chr2:9831000-9832200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:9831000-9832200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:9831000-9832200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:9831000-9832200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:9831000-9832200	Weak transcription	NHDF-Ad	bronchial
20	chr2:9831000-9832400	Weak transcription	Adipose Nuclei	Adipose
21	chr2:9831000-9832400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:9831000-9832400	Weak transcription	Osteobl	bone
23	chr2:9831000-9832600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:9831000-9832600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:9831000-9832600	Weak transcription	K562	blood
26	chr2:9831200-9832200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:9831200-9832200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:9831200-9832400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:9831200-9832400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:9831200-9832400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:9831200-9832400	Weak transcription	Left Ventricle	heart
32	chr2:9831200-9832600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:9831200-9832600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:9831200-9832600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:9831200-9832600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:9831200-9832600	Weak transcription	Right Atrium	heart
37	chr2:9831200-9832800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:9831200-9833000	Weak transcription	Spleen	Spleen
39	chr2:9831400-9832200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:9831400-9832800	Weak transcription	HMEC	breast
41	chr2:9831600-9832000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:9831600-9832000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:9831600-9832400	Weak transcription	Stomach Smooth Muscle	stomach

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