Variant report

Variant	rs4704219
Chromosome Location	chr5:74748505-74748506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10045497	0.92[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs11748027	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11749783	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12654264	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12916	0.80[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2126736	0.92[CEU][hapmap]
rs2878417	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs3843480	0.88[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs3843481	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3846662	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs3846663	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4549504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4604177	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4704200	0.92[CEU][hapmap]
rs4704220	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4704221	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4704223	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4704227	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744552	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5744672	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs5744680	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5744696	0.87[YRI][hapmap]
rs6873472	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6878990	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6896136	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7703051	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7733436	0.89[EUR][1000 genomes]
rs984976	0.92[CEU][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.93[EUR][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	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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
2	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:74709600-74760200	Weak transcription	Gastric	stomach
4	chr5:74713200-74753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:74721800-74749600	Weak transcription	Adipose Nuclei	Adipose
6	chr5:74722200-74749800	Weak transcription	Liver	Liver
7	chr5:74730400-74757400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:74731800-74757400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:74732000-74756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:74732000-74760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:74737600-74749800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:74738600-74756600	Weak transcription	Fetal Kidney	kidney
14	chr5:74739600-74756200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:74740000-74761600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:74741200-74760200	Weak transcription	Left Ventricle	heart
17	chr5:74742400-74749200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:74742400-74794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:74742600-74764200	Weak transcription	HSMM	muscle
20	chr5:74743000-74749400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:74743000-74749800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:74743000-74749800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:74743000-74750000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:74743000-74750200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:74743000-74752600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:74743000-74754800	Weak transcription	Fetal Lung	lung
27	chr5:74743000-74757000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:74743000-74760000	Weak transcription	Lung	lung
29	chr5:74743000-74761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr5:74743000-74761600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:74743000-74763400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:74743000-74764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:74743200-74749600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:74743200-74749600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:74743200-74749600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:74743200-74749800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:74743200-74749800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:74743200-74750400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr5:74743200-74752600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr5:74743200-74753600	Weak transcription	Dnd41	blood
41	chr5:74743200-74754800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:74743200-74756200	Weak transcription	A549	lung
43	chr5:74743200-74758000	Weak transcription	Fetal Stomach	stomach
44	chr5:74743200-74764200	Weak transcription	Aorta	Aorta
45	chr5:74743600-74755400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr5:74743800-74750400	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:74743800-74753600	Weak transcription	Fetal Intestine Large	intestine
48	chr5:74743800-74754800	Weak transcription	Ovary	ovary
49	chr5:74743800-74761400	Weak transcription	Fetal Thymus	thymus
50	chr5:74743800-74761400	Weak transcription	Thymus	Thymus

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