Variant report

Variant	rs4527230
Chromosome Location	chr2:73216087-73216088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10166058	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10166220	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10176939	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10177159	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10178854	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10178944	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10180720	0.81[EUR][1000 genomes]
rs10189744	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10191665	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10192077	0.81[EUR][1000 genomes]
rs10197305	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10209859	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1036512	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12233055	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13385994	0.81[EUR][1000 genomes]
rs13388404	0.94[EUR][1000 genomes]
rs13390072	0.82[EUR][1000 genomes]
rs13393567	0.80[EUR][1000 genomes]
rs13424057	0.89[EUR][1000 genomes]
rs1370383	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17008571	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17008611	0.96[EUR][1000 genomes]
rs17008631	0.81[EUR][1000 genomes]
rs4144837	0.85[EUR][1000 genomes]
rs55974516	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57536428	0.81[EUR][1000 genomes]
rs57937746	0.81[EUR][1000 genomes]
rs58993488	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61161134	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61164794	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61650913	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62147721	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62147724	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62147732	0.96[EUR][1000 genomes]
rs6546794	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546796	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6546797	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6709938	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710739	0.81[EUR][1000 genomes]
rs6713655	0.82[EUR][1000 genomes]
rs6717553	0.92[EUR][1000 genomes]
rs6719333	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6726940	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727269	0.81[EUR][1000 genomes]
rs6732369	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6750069	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6754779	0.82[EUR][1000 genomes]
rs6754858	0.82[EUR][1000 genomes]
rs6757131	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6759243	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6759733	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732178	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs732179	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs732180	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7566904	0.81[EUR][1000 genomes]
rs7570876	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7578757	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7579770	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7580216	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7597032	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs893258	0.92[ASN][1000 genomes]
rs893259	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9309467	0.98[EUR][1000 genomes];0.85[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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73168800-73226800	Weak transcription	NHLF	lung
2	chr2:73176600-73227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:73183200-73228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:73193600-73221200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:73198600-73220000	Weak transcription	Small Intestine	intestine
8	chr2:73203200-73218400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:73208000-73247600	Weak transcription	Primary B cells from cord blood	blood
11	chr2:73208200-73217000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:73208200-73218000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:73208200-73227000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:73208400-73217200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:73208400-73227400	Weak transcription	A549	lung
16	chr2:73208400-73227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:73208600-73217200	Weak transcription	NHEK	skin
18	chr2:73208600-73217800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:73208600-73227200	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:73209000-73227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:73209000-73227200	Weak transcription	HSMM	muscle
22	chr2:73209400-73218800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:73209400-73219200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:73209600-73217000	Weak transcription	HMEC	breast
25	chr2:73209600-73217200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:73209600-73217600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:73209600-73219600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:73210000-73217400	Strong transcription	Fetal Stomach	stomach
29	chr2:73210200-73217000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:73210400-73227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:73210600-73225400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:73210800-73217000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:73211000-73217800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
35	chr2:73211600-73221800	Weak transcription	Fetal Brain Male	brain
36	chr2:73211600-73235800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:73212000-73223000	Weak transcription	Brain Angular Gyrus	brain
38	chr2:73212000-73225400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:73212200-73247400	Weak transcription	HSMMtube	muscle
40	chr2:73212400-73216400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:73212400-73216400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:73212400-73217000	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:73212400-73227400	Weak transcription	Adipose Nuclei	Adipose
44	chr2:73212400-73236000	Weak transcription	Esophagus	oesophagus
45	chr2:73212800-73238800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:73213200-73216800	Strong transcription	Primary T cells from cord blood	blood
47	chr2:73213600-73216400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:73213800-73216800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:73213800-73219800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:73213800-73220400	Weak transcription	K562	blood

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