Variant report

Variant	rs4869541
Chromosome Location	chr5:37672806-37672807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10805627	0.95[ASN][1000 genomes]
rs10941358	0.93[ASN][1000 genomes]
rs10941359	0.99[ASN][1000 genomes]
rs11739400	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740897	0.96[ASN][1000 genomes]
rs11742904	0.92[ASN][1000 genomes]
rs11745980	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747548	0.99[ASN][1000 genomes]
rs11747900	0.99[ASN][1000 genomes]
rs11749563	0.88[ASN][1000 genomes]
rs11750837	0.96[ASN][1000 genomes]
rs11750840	0.96[ASN][1000 genomes]
rs12189078	0.92[ASN][1000 genomes]
rs12332088	0.96[ASN][1000 genomes]
rs12516955	0.96[ASN][1000 genomes]
rs12520944	1.00[ASN][1000 genomes]
rs12521063	1.00[ASN][1000 genomes]
rs1356433	0.94[ASN][1000 genomes]
rs1400854	1.00[ASN][1000 genomes]
rs1517786	0.97[ASN][1000 genomes]
rs1589119	0.95[ASN][1000 genomes]
rs1996427	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2176479	0.95[ASN][1000 genomes]
rs4242251	0.89[ASN][1000 genomes]
rs4257799	0.89[ASN][1000 genomes]
rs4343860	0.95[ASN][1000 genomes]
rs4371784	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4451075	0.92[ASN][1000 genomes]
rs4482927	0.95[ASN][1000 genomes]
rs4516881	0.95[ASN][1000 genomes]
rs4516882	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4541680	0.91[ASN][1000 genomes]
rs4582305	0.87[ASN][1000 genomes]
rs4594879	0.92[ASN][1000 genomes]
rs4608942	0.96[ASN][1000 genomes]
rs4618454	0.95[ASN][1000 genomes]
rs4869543	0.95[ASN][1000 genomes]
rs55708822	0.96[ASN][1000 genomes]
rs55732996	0.94[ASN][1000 genomes]
rs55742744	0.94[ASN][1000 genomes]
rs55849485	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56007806	0.97[ASN][1000 genomes]
rs56051431	0.96[ASN][1000 genomes]
rs56051756	0.96[ASN][1000 genomes]
rs56100322	0.94[ASN][1000 genomes]
rs56412589	0.96[ASN][1000 genomes]
rs56832651	0.99[ASN][1000 genomes]
rs57214650	0.89[EUR][1000 genomes]
rs59378089	0.94[ASN][1000 genomes]
rs59409868	0.99[ASN][1000 genomes]
rs59829323	0.96[ASN][1000 genomes]
rs60589722	0.94[ASN][1000 genomes]
rs61492379	0.92[ASN][1000 genomes]
rs62360907	0.91[ASN][1000 genomes]
rs62360910	0.96[ASN][1000 genomes]
rs6451329	0.94[ASN][1000 genomes]
rs6451330	0.93[ASN][1000 genomes]
rs6451331	0.93[ASN][1000 genomes]
rs6451333	0.97[ASN][1000 genomes]
rs6451337	0.96[ASN][1000 genomes]
rs6451339	0.96[ASN][1000 genomes]
rs6863936	0.96[ASN][1000 genomes]
rs6864924	0.88[ASN][1000 genomes]
rs6868428	0.97[ASN][1000 genomes]
rs6884551	0.94[ASN][1000 genomes]
rs6884569	0.94[ASN][1000 genomes]
rs6885057	0.96[ASN][1000 genomes]
rs6885329	0.96[ASN][1000 genomes]
rs6887215	0.97[ASN][1000 genomes]
rs6887613	0.97[ASN][1000 genomes]
rs72743184	0.89[ASN][1000 genomes]
rs7702644	0.95[ASN][1000 genomes]
rs7703775	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7725465	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37669600-37680000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:37671400-37673000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr5:37671400-37673600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:37671800-37673000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:37671800-37673000	Enhancers	Primary B cells from peripheral blood	blood
6	chr5:37671800-37673000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:37671800-37673000	Enhancers	Fetal Heart	heart
8	chr5:37671800-37673000	Enhancers	K562	blood
9	chr5:37671800-37673000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:37671800-37673400	Enhancers	Dnd41	blood
11	chr5:37671800-37673600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:37672000-37673000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:37672000-37673200	Enhancers	Psoas Muscle	Psoas
14	chr5:37672200-37673000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:37672200-37673000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:37672200-37673000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:37672200-37673000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:37672200-37673000	Enhancers	Lung	lung
19	chr5:37672200-37673000	Enhancers	Right Ventricle	heart
20	chr5:37672200-37673000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:37672200-37673000	Enhancers	Spleen	Spleen
22	chr5:37672200-37673400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:37672200-37674000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr5:37672400-37673000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:37672400-37673000	Enhancers	Primary B cells from cord blood	blood
26	chr5:37672400-37673000	Enhancers	Primary T cells from cord blood	blood
27	chr5:37672400-37673000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:37672400-37673000	Enhancers	Adipose Nuclei	Adipose
29	chr5:37672400-37673000	Enhancers	Placenta	Placenta
30	chr5:37672400-37673000	Enhancers	Left Ventricle	heart
31	chr5:37672400-37673000	Enhancers	GM12878-XiMat	blood
32	chr5:37672400-37674000	Enhancers	Primary hematopoietic stem cells	blood
33	chr5:37672400-37674000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:37672600-37673000	Enhancers	NH-A	brain
35	chr5:37672800-37673000	Enhancers	Rectal Smooth Muscle	rectum

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