Variant report

Variant	rs73120833
Chromosome Location	chr5:74814772-74814773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10038723	0.86[ASN][1000 genomes]
rs10043621	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10044053	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10060260	0.82[EUR][1000 genomes]
rs10067641	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10075139	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10434644	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10462517	0.85[ASN][1000 genomes]
rs10474436	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1051795	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10942739	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11957913	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12234032	0.80[ASN][1000 genomes]
rs13354407	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1427924	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17739580	0.83[EUR][1000 genomes]
rs1863934	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1863935	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1995267	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287711	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28609217	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2878519	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2878520	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3213801	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3761742	0.80[ASN][1000 genomes]
rs3761743	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3846665	0.80[ASN][1000 genomes]
rs3846666	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4045166	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4385188	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4440336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4703670	0.83[ASN][1000 genomes]
rs4703674	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4704214	0.85[ASN][1000 genomes]
rs4704224	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4704228	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57149337	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57312935	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5744533	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5744555	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5744575	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5744595	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5744598	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744601	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744621	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5744663	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5744703	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59506842	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61430233	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6453134	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67969809	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6861279	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6863398	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6872314	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6874781	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6886841	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6891949	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs698912	0.85[ASN][1000 genomes]
rs7356637	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7445415	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs767676	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7700468	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7706857	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7709282	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7717505	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7723531	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7737959	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs924452	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9293656	0.83[EUR][1000 genomes]
rs9332464	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9885386	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882200	chr5:74781439-74830808	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3385195	chr5:74810245-74843686	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv882203	chr5:74811497-74832919	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv882204	chr5:74811497-74856142	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv882205	chr5:74811497-74862921	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74808200-74814800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74808200-74817600	Weak transcription	Esophagus	oesophagus
3	chr5:74808600-74817600	Weak transcription	Thymus	Thymus
4	chr5:74808600-74819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:74808800-74816200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:74808800-74816200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:74808800-74817600	Weak transcription	Aorta	Aorta
8	chr5:74808800-74817600	Weak transcription	Fetal Thymus	thymus
9	chr5:74808800-74817800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:74808800-74849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:74809000-74815600	Weak transcription	Fetal Intestine Large	intestine
12	chr5:74809000-74816200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:74809000-74816200	Weak transcription	Small Intestine	intestine
14	chr5:74809000-74819600	Weak transcription	Placenta	Placenta
15	chr5:74809000-74820000	Weak transcription	Colonic Mucosa	Colon
16	chr5:74809400-74814800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:74809400-74815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:74809400-74815800	Weak transcription	Primary T cells from cord blood	blood
19	chr5:74809400-74816200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:74809400-74816200	Weak transcription	Ovary	ovary
21	chr5:74809400-74816400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:74809400-74816400	Weak transcription	Osteobl	bone
23	chr5:74809400-74817600	Weak transcription	HSMM	muscle
24	chr5:74809400-74817800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:74809400-74830600	Weak transcription	Fetal Kidney	kidney
26	chr5:74809600-74814800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:74809600-74814800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:74809600-74816200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:74809600-74816200	Weak transcription	Liver	Liver
30	chr5:74809600-74816600	Weak transcription	NHDF-Ad	bronchial
31	chr5:74809600-74817600	Weak transcription	HMEC	breast
32	chr5:74809600-74820600	Weak transcription	Brain Angular Gyrus	brain
33	chr5:74809600-74830200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:74809600-74839400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:74809800-74815200	Weak transcription	K562	blood
36	chr5:74809800-74815400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:74809800-74815600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:74809800-74816000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:74809800-74816400	Weak transcription	A549	lung
40	chr5:74809800-74817600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:74809800-74817600	Weak transcription	NHLF	lung
42	chr5:74810000-74816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:74810000-74816600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:74810200-74816200	Weak transcription	Adipose Nuclei	Adipose
45	chr5:74810400-74816200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:74810400-74816200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
48	chr5:74810600-74816000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr5:74810600-74816400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:74810600-74816400	Weak transcription	Duodenum Mucosa	Duodenum

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