Variant report

Variant	rs73970604
Chromosome Location	chr2:153206236-153206237
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10497100	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931062	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185697	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004494	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005848	0.87[ASN][1000 genomes]
rs13022422	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13023506	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023659	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029981	0.87[ASN][1000 genomes]
rs16830878	0.87[ASN][1000 genomes]
rs16830885	0.87[ASN][1000 genomes]
rs16830964	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830971	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830977	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831007	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16831009	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16831018	0.81[AMR][1000 genomes]
rs16831034	0.81[AMR][1000 genomes]
rs2345902	0.85[EUR][1000 genomes]
rs34104978	0.87[ASN][1000 genomes]
rs34288092	0.91[ASN][1000 genomes]
rs34581620	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34635752	0.92[EUR][1000 genomes]
rs35403838	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35589946	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35771051	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35886923	0.87[ASN][1000 genomes]
rs35937195	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664101	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664104	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664107	0.81[AMR][1000 genomes]
rs4664571	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664574	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664576	0.81[AMR][1000 genomes]
rs57720755	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417219	0.87[EUR][1000 genomes]
rs71417220	0.85[EUR][1000 genomes]
rs73967829	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73967831	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573890	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574699	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7588008	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7602756	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602975	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606289	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606397	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv2436407	chr2:153204888-153206437	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
2	chr2:153194000-153206600	Weak transcription	Pancreas	Pancrea
3	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
4	chr2:153194600-153206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:153194600-153206400	Weak transcription	Lung	lung
6	chr2:153194600-153206600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:153194600-153210400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:153194600-153210400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:153194600-153214600	Weak transcription	Gastric	stomach
10	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:153196600-153211800	Weak transcription	Small Intestine	intestine
12	chr2:153197000-153207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:153198000-153207400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
16	chr2:153199400-153212200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:153199800-153211800	Weak transcription	Fetal Kidney	kidney
18	chr2:153200400-153211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:153200600-153210400	Weak transcription	Ovary	ovary
21	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:153200800-153209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:153200800-153210000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:153200800-153210400	Weak transcription	NHDF-Ad	bronchial
25	chr2:153200800-153210600	Weak transcription	Psoas Muscle	Psoas
26	chr2:153200800-153212600	Weak transcription	Fetal Intestine Large	intestine
27	chr2:153200800-153215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
29	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:153201600-153208400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:153201600-153216000	Weak transcription	Fetal Lung	lung
32	chr2:153202000-153206400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:153202400-153211000	Weak transcription	NHEK	skin
34	chr2:153202400-153219800	Weak transcription	Hela-S3	cervix
35	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:153203000-153206800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
38	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:153203200-153206600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:153203200-153207200	Weak transcription	Fetal Intestine Small	intestine
41	chr2:153203600-153206800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr2:153203600-153207000	Enhancers	Brain Angular Gyrus	brain
43	chr2:153203600-153207000	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:153203600-153207200	Enhancers	Brain Anterior Caudate	brain
45	chr2:153204400-153207200	Enhancers	Brain Substantia Nigra	brain
46	chr2:153204400-153209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:153205000-153207000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:153205200-153206800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:153205200-153209600	Weak transcription	A549	lung
50	chr2:153205200-153210600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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