Variant report

Variant	rs7592230
Chromosome Location	chr2:189940902-189940903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10165260	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10176287	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10194618	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3923384	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4128538	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666770	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6434322	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6717231	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6750027	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420715	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7422106	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7422861	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7423494	0.86[AMR][1000 genomes]
rs7424947	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592439	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv3074	chr2:189931263-189976124	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
3	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:189900800-189964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:189901200-189947400	Weak transcription	Fetal Brain Male	brain
6	chr2:189904400-189951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:189912400-189961600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:189914800-189946800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:189915000-189950600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:189915400-189951000	Strong transcription	Osteobl	bone
11	chr2:189916200-189947600	Weak transcription	Spleen	Spleen
12	chr2:189922800-189980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:189929400-189941000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:189929600-189951400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:189931200-189941200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:189933000-189941000	Weak transcription	Ovary	ovary
17	chr2:189933000-189960400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:189933000-189980200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:189933200-189946800	Weak transcription	Fetal Kidney	kidney
20	chr2:189933800-189941200	Weak transcription	Aorta	Aorta
21	chr2:189933800-189947400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:189933800-189947400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:189933800-189957800	Weak transcription	Fetal Intestine Small	intestine
24	chr2:189935000-189945800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:189935000-189946000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:189935200-189947200	Strong transcription	A549	lung
27	chr2:189935400-189941000	Weak transcription	Fetal Stomach	stomach
28	chr2:189936600-189969200	Weak transcription	Liver	Liver
29	chr2:189938000-189941000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr2:189938200-189951200	Strong transcription	NH-A	brain
31	chr2:189938400-189951800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:189938600-189947200	Strong transcription	Adipose Nuclei	Adipose
33	chr2:189939000-189942000	Strong transcription	NHLF	lung
34	chr2:189939000-189944800	Strong transcription	HUVEC	blood vessel
35	chr2:189939000-189946000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:189939200-189945400	Strong transcription	Fetal Lung	lung
37	chr2:189939200-189945800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:189939400-189944400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:189939400-189945800	Strong transcription	Fetal Muscle Leg	muscle
40	chr2:189940000-189945800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:189940000-189948000	Weak transcription	Placenta	Placenta
42	chr2:189940600-189941000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:189940600-189941200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:189940600-189941400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:189940600-189941400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:189940600-189941400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:189940600-189941600	Genic enhancers	HSMMtube	muscle
48	chr2:189940600-189941800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:189940600-189941800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:189940600-189941800	Genic enhancers	Colon Smooth Muscle	Colon

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