Variant report

Variant	rs2680673
Chromosome Location	chr3:140699922-140699923
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140693357..140695155-chr3:140699773..140701643,2	K562	blood:
2	chr3:140688365..140690590-chr3:140697692..140700351,3	K562	blood:
3	chr3:140692439..140694857-chr3:140699902..140701643,2	K562	blood:
4	chr3:140659978..140660506-chr3:140699204..140700016,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114120	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2680674	0.92[AFR][1000 genomes]
rs72991044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9829128	0.96[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591865	chr3:140396022-140728850	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140664200-140703800	Weak transcription	Aorta	Aorta
2	chr3:140672800-140700000	Weak transcription	Small Intestine	intestine
3	chr3:140673400-140700200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:140695600-140700600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:140695800-140700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:140695800-140701200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:140696000-140701000	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:140696000-140702800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:140696400-140700200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:140697200-140700600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:140697400-140700200	Weak transcription	Adipose Nuclei	Adipose
12	chr3:140697400-140700200	Weak transcription	NH-A	brain
13	chr3:140697400-140700400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:140697400-140700400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:140697400-140700800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:140697400-140701200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:140697400-140701200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:140697600-140700400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:140697600-140700800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:140697600-140701400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:140697600-140701600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:140697800-140700000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:140697800-140700000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:140698200-140700000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:140698600-140700200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:140698800-140700400	Weak transcription	Hela-S3	cervix
27	chr3:140699000-140701400	Weak transcription	HSMM	muscle
28	chr3:140699000-140701600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:140699600-140700800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:140699800-140700000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:140699800-140700000	Weak transcription	Left Ventricle	heart
32	chr3:140699800-140700400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr3:140699800-140701600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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