Variant report

Variant	rs73120811
Chromosome Location	chr5:74762578-74762579
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11948350	0.89[EUR][1000 genomes]
rs11948442	0.89[EUR][1000 genomes]
rs11952534	0.89[EUR][1000 genomes]
rs11953173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11953883	0.89[EUR][1000 genomes]
rs11954651	0.88[EUR][1000 genomes]
rs11955568	0.89[EUR][1000 genomes]
rs11955819	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956111	0.89[EUR][1000 genomes]
rs11956112	0.89[EUR][1000 genomes]
rs11956755	0.89[EUR][1000 genomes]
rs11960741	0.89[EUR][1000 genomes]
rs11960747	0.89[EUR][1000 genomes]
rs11960771	0.89[EUR][1000 genomes]
rs1422441	0.89[EUR][1000 genomes]
rs1489	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16872523	0.88[EUR][1000 genomes]
rs16872590	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16872661	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16872677	0.89[EUR][1000 genomes]
rs16872683	0.89[EUR][1000 genomes]
rs16872693	0.89[EUR][1000 genomes]
rs17238540	0.88[EUR][1000 genomes]
rs1991450	0.89[EUR][1000 genomes]
rs2112348	0.89[EUR][1000 genomes]
rs2112349	0.84[EUR][1000 genomes]
rs2112350	0.89[EUR][1000 genomes]
rs4640773	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56832737	0.89[EUR][1000 genomes]
rs57414757	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744617	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5744720	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57531042	0.89[EUR][1000 genomes]
rs57670471	0.89[EUR][1000 genomes]
rs58216239	1.00[EUR][1000 genomes]
rs59427628	1.00[EUR][1000 genomes]
rs60385047	0.89[EUR][1000 genomes]
rs60609097	0.89[EUR][1000 genomes]
rs60630022	0.88[EUR][1000 genomes]
rs61165632	0.88[EUR][1000 genomes]
rs61516153	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61529616	0.87[EUR][1000 genomes]
rs6865606	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6866607	0.88[EUR][1000 genomes]
rs6870090	0.89[EUR][1000 genomes]
rs6882452	0.89[EUR][1000 genomes]
rs6894068	0.89[EUR][1000 genomes]
rs6895148	0.89[EUR][1000 genomes]
rs6898308	0.88[EUR][1000 genomes]
rs73118846	0.88[EUR][1000 genomes]
rs73118860	0.88[EUR][1000 genomes]
rs73118876	0.81[EUR][1000 genomes]
rs73118877	0.81[EUR][1000 genomes]
rs73118880	0.81[EUR][1000 genomes]
rs73120804	1.00[EUR][1000 genomes]
rs73120805	1.00[EUR][1000 genomes]
rs73120807	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120822	1.00[EUR][1000 genomes]
rs73120824	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120848	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120849	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120850	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73122744	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73122755	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73122770	0.89[EUR][1000 genomes]
rs73122771	0.89[EUR][1000 genomes]
rs73122772	0.89[EUR][1000 genomes]
rs73124734	0.89[EUR][1000 genomes]
rs73124747	0.89[EUR][1000 genomes]
rs73124750	0.89[EUR][1000 genomes]
rs7722940	0.88[EUR][1000 genomes]
rs7724771	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:74742400-74794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:74742600-74764200	Weak transcription	HSMM	muscle
4	chr5:74743000-74763400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:74743000-74764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:74743200-74764200	Weak transcription	Aorta	Aorta
7	chr5:74748600-74770400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:74750600-74763600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:74751600-74769000	Weak transcription	Liver	Liver
10	chr5:74754600-74762800	Weak transcription	Fetal Intestine Large	intestine
11	chr5:74754600-74764000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:74756800-74764000	Weak transcription	Fetal Kidney	kidney
13	chr5:74757200-74763000	Weak transcription	Stomach Mucosa	stomach
14	chr5:74757800-74764200	Weak transcription	A549	lung
15	chr5:74758400-74764000	Weak transcription	NHDF-Ad	bronchial
16	chr5:74758400-74764600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:74758600-74764200	Weak transcription	Fetal Stomach	stomach
18	chr5:74759400-74762800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr5:74759600-74763000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:74759800-74764200	Weak transcription	Fetal Brain Male	brain
21	chr5:74760000-74762600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:74760000-74763000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:74760200-74762600	Enhancers	Left Ventricle	heart
24	chr5:74760200-74763200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:74760200-74764000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:74760200-74764000	Weak transcription	HMEC	breast
27	chr5:74760400-74764000	Weak transcription	Primary B cells from cord blood	blood
28	chr5:74760400-74764200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:74760400-74764200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:74760400-74764200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:74760400-74776800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:74760400-74792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:74760600-74764200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:74760800-74762800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:74761000-74762600	Enhancers	HUVEC	blood vessel
36	chr5:74761000-74762800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:74761000-74762800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:74761200-74762600	Enhancers	Primary T cells from cord blood	blood
39	chr5:74761200-74762800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:74761400-74762600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr5:74761400-74762600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:74761400-74762600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:74761400-74762600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:74761400-74762600	Enhancers	Brain Angular Gyrus	brain
45	chr5:74761400-74762600	Enhancers	Brain Substantia Nigra	brain
46	chr5:74761400-74762600	Enhancers	Fetal Thymus	thymus
47	chr5:74761400-74762600	Enhancers	Thymus	Thymus
48	chr5:74761400-74762800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:74761400-74762800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr5:74761400-74762800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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