Variant report

Variant	rs73120805
Chromosome Location	chr5:74741871-74741872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
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	0.94[EUR][1000 genomes]
rs11953883	0.89[EUR][1000 genomes]
rs11954651	0.88[EUR][1000 genomes]
rs11955568	0.89[EUR][1000 genomes]
rs11955819	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	0.94[EUR][1000 genomes]
rs16872523	0.88[EUR][1000 genomes]
rs16872590	0.94[EUR][1000 genomes]
rs16872661	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	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56832737	0.89[EUR][1000 genomes]
rs57414757	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744617	0.94[EUR][1000 genomes]
rs5744720	0.94[EUR][1000 genomes]
rs57531042	0.89[EUR][1000 genomes]
rs57670471	0.89[EUR][1000 genomes]
rs58216239	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];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	0.94[EUR][1000 genomes]
rs61529616	0.87[EUR][1000 genomes]
rs6865606	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]
rs73120807	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120811	1.00[EUR][1000 genomes]
rs73120822	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120824	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120848	0.94[EUR][1000 genomes]
rs73120849	0.94[EUR][1000 genomes]
rs73120850	0.94[EUR][1000 genomes]
rs73122744	0.94[EUR][1000 genomes]
rs73122755	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: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:48 , 50 per page) page: 1

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	chr5:74708400-74746000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:74709600-74760200	Weak transcription	Gastric	stomach
5	chr5:74713200-74753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:74718800-74742200	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:74721400-74742600	Weak transcription	Thymus	Thymus
8	chr5:74721600-74742600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:74721800-74742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:74721800-74749600	Weak transcription	Adipose Nuclei	Adipose
11	chr5:74722200-74749800	Weak transcription	Liver	Liver
12	chr5:74722600-74742200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:74730400-74757400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:74731800-74742400	Weak transcription	Ovary	ovary
15	chr5:74731800-74757400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:74732000-74742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:74732000-74742600	Weak transcription	Lung	lung
18	chr5:74732000-74756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:74732000-74760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:74735400-74742200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:74737600-74749800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:74738400-74742600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:74738600-74756600	Weak transcription	Fetal Kidney	kidney
25	chr5:74739600-74756200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:74739800-74743800	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr5:74740000-74761600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:74740800-74743200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr5:74741000-74743200	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr5:74741000-74745000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:74741200-74742000	Weak transcription	A549	lung
32	chr5:74741200-74743200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:74741200-74743800	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr5:74741200-74746800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:74741200-74760200	Weak transcription	Left Ventricle	heart
36	chr5:74741400-74742200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
37	chr5:74741400-74743000	ZNF genes & repeats	Fetal Lung	lung
38	chr5:74741400-74743000	ZNF genes & repeats	GM12878-XiMat	blood
39	chr5:74741400-74743200	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr5:74741400-74743200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
41	chr5:74741400-74743200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
42	chr5:74741400-74743200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:74741400-74743200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr5:74741400-74743800	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr5:74741600-74742600	Weak transcription	Aorta	Aorta
46	chr5:74741800-74742600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
47	chr5:74741800-74742600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:74741800-74743000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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