Variant report

Variant	rs35480874
Chromosome Location	chr2:64221458-64221459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10183479	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11558741	0.88[ASN][1000 genomes]
rs11674020	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11676710	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683408	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11691987	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11693906	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12713498	0.88[ASN][1000 genomes]
rs12996866	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13014371	0.81[AFR][1000 genomes]
rs13018690	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13431781	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1440002	0.90[ASN][1000 genomes]
rs17562177	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17562423	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs193031	0.91[ASN][1000 genomes]
rs2302808	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2439183	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2969395	1.00[ASN][1000 genomes]
rs329478	1.00[ASN][1000 genomes]
rs329488	0.91[ASN][1000 genomes]
rs34122334	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34765999	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34777730	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35002211	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35336851	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35697586	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35960986	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36033991	0.90[ASN][1000 genomes]
rs36123537	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4233930	0.83[ASN][1000 genomes]
rs4538187	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671071	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56904032	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546029	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6546030	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6546032	0.88[ASN][1000 genomes]
rs6546033	0.87[ASN][1000 genomes]
rs6546035	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66980330	0.88[ASN][1000 genomes]
rs6715992	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67308158	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6731508	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6732746	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6755646	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67615384	0.92[ASN][1000 genomes]
rs67765474	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68117986	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72808243	0.88[ASN][1000 genomes]
rs72893103	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74181291	0.90[ASN][1000 genomes]
rs7590399	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
3	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
2	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:64194000-64243200	Weak transcription	NHLF	lung
5	chr2:64198600-64228000	Weak transcription	Right Ventricle	heart
6	chr2:64202800-64232400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:64203200-64228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:64203400-64228000	Weak transcription	Ovary	ovary
9	chr2:64204200-64227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:64205600-64228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:64209000-64229200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:64209400-64244800	Weak transcription	HSMM	muscle
13	chr2:64210200-64222000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:64212600-64222200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:64212800-64228400	Weak transcription	NHEK	skin
17	chr2:64213000-64224200	Weak transcription	A549	lung
18	chr2:64213600-64222600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
20	chr2:64216000-64222600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:64217200-64227800	Weak transcription	Left Ventricle	heart
22	chr2:64217600-64222000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:64217800-64224000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:64217800-64224200	Weak transcription	Fetal Lung	lung
25	chr2:64217800-64225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:64218600-64221600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:64218800-64224000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:64219200-64224200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:64219200-64227800	Weak transcription	Fetal Stomach	stomach
30	chr2:64219200-64237000	Weak transcription	Placenta	Placenta
31	chr2:64219400-64238400	Weak transcription	Gastric	stomach
32	chr2:64220400-64222400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:64220600-64222400	Enhancers	Dnd41	blood
34	chr2:64220600-64222800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:64221000-64221600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:64221000-64221600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:64221000-64221600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:64221000-64222200	Weak transcription	Osteobl	bone
39	chr2:64221000-64222400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:64221000-64228000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:64221200-64221800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:64221200-64221800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr2:64221200-64222400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:64221200-64223400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:64221400-64221600	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:64221400-64221600	Enhancers	HMEC	breast
47	chr2:64221400-64222200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:64221400-64222200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:64221400-64222200	Enhancers	HepG2	liver
50	chr2:64221400-64222600	Enhancers	Hela-S3	cervix

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