Variant report

Variant	rs6433316
Chromosome Location	chr2:172742056-172742057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10177679	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10179020	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10191399	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10196521	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10201520	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1022358	0.81[AMR][1000 genomes]
rs10432474	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930493	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10930501	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1105264	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11676484	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11677573	0.87[AMR][1000 genomes]
rs11903123	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11903410	0.88[AMR][1000 genomes]
rs12464262	0.80[ASN][1000 genomes]
rs12467010	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12471160	0.80[ASN][1000 genomes]
rs12473516	0.86[EUR][1000 genomes]
rs12479374	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12619137	0.81[AFR][1000 genomes]
rs13012103	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13031370	0.88[AMR][1000 genomes]
rs13399316	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1400816	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1443699	0.82[AMR][1000 genomes]
rs1515812	0.80[ASN][1000 genomes]
rs1517678	0.84[ASN][1000 genomes]
rs1543168	0.84[ASN][1000 genomes]
rs1554165	0.80[ASN][1000 genomes]
rs1607253	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16859721	0.80[ASN][1000 genomes]
rs17580984	0.80[ASN][1000 genomes]
rs17614989	0.80[ASN][1000 genomes]
rs17615013	0.80[ASN][1000 genomes]
rs1850031	0.80[ASN][1000 genomes]
rs1878583	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1982288	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1996425	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2028670	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2028671	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2028672	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2037164	0.80[ASN][1000 genomes]
rs2138873	0.81[AFR][1000 genomes]
rs2292813	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2357064	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2357207	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2357208	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28372952	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3770443	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770444	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3770457	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3791343	0.86[EUR][1000 genomes]
rs3821092	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821094	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3821096	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4507064	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4668416	0.81[AFR][1000 genomes]
rs4668417	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58565148	0.80[ASN][1000 genomes]
rs60706248	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6433313	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6433315	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6433317	0.80[AFR][1000 genomes]
rs6433318	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6433322	0.88[AMR][1000 genomes]
rs6707142	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6708365	0.83[AFR][1000 genomes]
rs6714214	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6726050	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6726991	0.83[AFR][1000 genomes]
rs6733123	0.86[AMR][1000 genomes]
rs6736159	0.84[AFR][1000 genomes]
rs6742905	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6753551	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6753859	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7371631	0.88[AMR][1000 genomes]
rs7583860	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7588025	0.80[AFR][1000 genomes]
rs7588351	0.80[ASN][1000 genomes]
rs7597525	0.95[EUR][1000 genomes]
rs7598232	0.88[AMR][1000 genomes]
rs7604933	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs949548	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs970948	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS 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	12 gene(s)	inside rSNPs	diseases
4	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases
5	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172709600-172749600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:172709600-172749600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:172710800-172747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:172712200-172749200	Weak transcription	Hela-S3	cervix
6	chr2:172721200-172749600	Weak transcription	Thymus	Thymus
7	chr2:172724000-172749600	Weak transcription	Small Intestine	intestine
8	chr2:172724800-172749600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:172725400-172749800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:172725800-172749600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:172731400-172746400	Weak transcription	Fetal Lung	lung
12	chr2:172731600-172749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:172731800-172746400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:172732000-172746000	Weak transcription	Fetal Brain Female	brain
15	chr2:172732000-172746400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:172732000-172746400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:172732000-172746600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:172732000-172748800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:172732000-172749400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:172732000-172749400	Weak transcription	A549	lung
21	chr2:172732000-172749600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:172732000-172749800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:172732000-172749800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:172732000-172750000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:172732200-172746400	Weak transcription	Primary B cells from cord blood	blood
26	chr2:172732200-172749600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:172732400-172749600	Weak transcription	Fetal Kidney	kidney
28	chr2:172732400-172749800	Weak transcription	Fetal Thymus	thymus
29	chr2:172732600-172747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:172733000-172746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:172733000-172749200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:172733000-172749400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:172735200-172749600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:172735400-172746600	Weak transcription	HSMM	muscle
35	chr2:172735400-172748200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:172735400-172748400	Weak transcription	Brain Anterior Caudate	brain
37	chr2:172735400-172749400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:172735400-172749400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:172735400-172749400	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:172735400-172749600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:172735400-172749600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:172735400-172749600	Weak transcription	NHDF-Ad	bronchial
43	chr2:172735400-172749600	Weak transcription	NHEK	skin
44	chr2:172735600-172746400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:172735600-172749600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:172735600-172749600	Weak transcription	Adipose Nuclei	Adipose
47	chr2:172735600-172749600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:172735600-172749600	Weak transcription	Brain Substantia Nigra	brain
49	chr2:172735600-172749600	Weak transcription	HMEC	breast
50	chr2:172735600-172749600	Weak transcription	NHLF	lung

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