Variant report

Variant	rs55860423
Chromosome Location	chr2:153197290-153197291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153196103..153199228-chr2:153200981..153204897,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12474703	0.82[AFR][1000 genomes]
rs13034665	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17326796	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17398676	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17398704	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2002558	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2003332	0.85[AMR][1000 genomes]
rs2003333	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2345878	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35953368	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3887026	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4519464	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5008216	0.81[AMR][1000 genomes]
rs56111292	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56187233	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56313461	0.85[AMR][1000 genomes]
rs6722740	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6725954	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6759036	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7557426	0.82[AFR][1000 genomes]
rs7583872	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7584000	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7585911	0.87[AMR][1000 genomes];0.81[EUR][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	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193600-153197600	Weak transcription	Fetal Heart	heart
2	chr2:153193800-153199200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
4	chr2:153194000-153200000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:153194000-153200200	Weak transcription	Fetal Intestine Large	intestine
6	chr2:153194000-153201200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:153194000-153203600	Weak transcription	Osteobl	bone
8	chr2:153194000-153206600	Weak transcription	Pancreas	Pancrea
9	chr2:153194200-153198000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
11	chr2:153194400-153197600	Weak transcription	Right Atrium	heart
12	chr2:153194400-153200600	Weak transcription	NHDF-Ad	bronchial
13	chr2:153194400-153201200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:153194400-153202800	Weak transcription	Fetal Intestine Small	intestine
15	chr2:153194600-153197400	Weak transcription	Placenta	Placenta
16	chr2:153194600-153197400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:153194600-153197600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:153194600-153197800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:153194600-153198000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:153194600-153198800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:153194600-153199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:153194600-153199000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:153194600-153199200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:153194600-153199600	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:153194600-153200200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:153194600-153200600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:153194600-153200600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:153194600-153204200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:153194600-153205800	Weak transcription	Left Ventricle	heart
30	chr2:153194600-153206200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:153194600-153206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:153194600-153206400	Weak transcription	Lung	lung
33	chr2:153194600-153206600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:153194600-153210400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:153194600-153210400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:153194600-153214600	Weak transcription	Gastric	stomach
37	chr2:153194800-153198800	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:153194800-153199200	Enhancers	Brain Substantia Nigra	brain
39	chr2:153194800-153199400	Weak transcription	Fetal Kidney	kidney
40	chr2:153194800-153203800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:153195000-153199000	Weak transcription	Hela-S3	cervix
42	chr2:153195000-153199200	Enhancers	Brain Angular Gyrus	brain
43	chr2:153195000-153199400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:153195000-153200800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:153195000-153204600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:153195400-153197600	Weak transcription	Ovary	ovary
47	chr2:153195400-153198000	Enhancers	HepG2	liver
48	chr2:153195400-153200000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:153195600-153198600	Enhancers	Fetal Lung	lung
50	chr2:153195800-153197400	Weak transcription	Psoas Muscle	Psoas

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