Variant report

Variant	rs73120848
Chromosome Location	chr5:74831821-74831822
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:64)

rs_ID	r²[population]
rs11948350	0.94[EUR][1000 genomes]
rs11948442	0.94[EUR][1000 genomes]
rs11952534	0.94[EUR][1000 genomes]
rs11953173	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11953883	0.94[EUR][1000 genomes]
rs11954651	0.82[EUR][1000 genomes]
rs11955568	0.94[EUR][1000 genomes]
rs11955819	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11956111	0.94[EUR][1000 genomes]
rs11956112	0.94[EUR][1000 genomes]
rs11956755	0.94[EUR][1000 genomes]
rs11960741	0.94[EUR][1000 genomes]
rs11960747	0.94[EUR][1000 genomes]
rs11960771	0.94[EUR][1000 genomes]
rs1422441	0.94[EUR][1000 genomes]
rs1489	1.00[EUR][1000 genomes]
rs16872523	0.82[EUR][1000 genomes]
rs16872590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872661	1.00[EUR][1000 genomes]
rs16872677	0.94[EUR][1000 genomes]
rs16872683	0.94[EUR][1000 genomes]
rs16872693	0.94[EUR][1000 genomes]
rs17238540	0.82[EUR][1000 genomes]
rs1991450	0.94[EUR][1000 genomes]
rs2112348	0.94[EUR][1000 genomes]
rs2112349	0.89[EUR][1000 genomes]
rs2112350	0.94[EUR][1000 genomes]
rs4640773	0.88[EUR][1000 genomes]
rs56832737	0.94[EUR][1000 genomes]
rs57414757	0.94[EUR][1000 genomes]
rs5744617	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744720	1.00[EUR][1000 genomes]
rs57531042	0.94[EUR][1000 genomes]
rs57670471	0.94[EUR][1000 genomes]
rs58216239	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59427628	0.94[EUR][1000 genomes]
rs60385047	0.94[EUR][1000 genomes]
rs60609097	0.94[EUR][1000 genomes]
rs61516153	1.00[EUR][1000 genomes]
rs6865606	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6866607	0.82[EUR][1000 genomes]
rs6870090	0.94[EUR][1000 genomes]
rs6882452	0.94[EUR][1000 genomes]
rs6894068	0.94[EUR][1000 genomes]
rs6895148	0.94[EUR][1000 genomes]
rs6898308	0.82[EUR][1000 genomes]
rs73120804	0.94[EUR][1000 genomes]
rs73120805	0.94[EUR][1000 genomes]
rs73120807	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120811	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120822	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120824	0.94[EUR][1000 genomes]
rs73120849	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73122744	1.00[EUR][1000 genomes]
rs73122755	1.00[EUR][1000 genomes]
rs73122770	0.94[EUR][1000 genomes]
rs73122771	0.94[EUR][1000 genomes]
rs73122772	0.94[EUR][1000 genomes]
rs73124734	0.94[EUR][1000 genomes]
rs73124747	0.94[EUR][1000 genomes]
rs73124750	0.94[EUR][1000 genomes]
rs7722940	0.82[EUR][1000 genomes]
rs7724771	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
10	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
11	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
12	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
13	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
14	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74808800-74849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:74809600-74839400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
4	chr5:74815000-74832200	Weak transcription	Right Ventricle	heart
5	chr5:74818000-74832000	Weak transcription	Fetal Thymus	thymus
6	chr5:74818000-74832000	Weak transcription	Lung	lung
7	chr5:74818000-74832000	Weak transcription	Pancreas	Pancrea
8	chr5:74818000-74832200	Weak transcription	Esophagus	oesophagus
9	chr5:74818000-74832200	Weak transcription	HSMM	muscle
10	chr5:74818200-74832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
12	chr5:74819000-74832200	Weak transcription	Osteobl	bone
13	chr5:74819400-74846800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:74820400-74832000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:74820800-74832200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:74820800-74832200	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:74821600-74832400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:74822200-74832400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:74822800-74832000	Weak transcription	Spleen	Spleen
20	chr5:74822800-74832200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:74822800-74896000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:74823200-74832000	Weak transcription	Left Ventricle	heart
23	chr5:74825400-74832200	Weak transcription	Psoas Muscle	Psoas
24	chr5:74826000-74862400	Weak transcription	Fetal Heart	heart
25	chr5:74827600-74832800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr5:74828200-74832400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:74828400-74832400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:74829200-74833000	Enhancers	NHEK	skin
29	chr5:74829400-74832400	Weak transcription	NH-A	brain
30	chr5:74829800-74832000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr5:74830000-74833000	Enhancers	HMEC	breast
32	chr5:74830600-74832000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:74830800-74833000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:74831000-74832000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr5:74831000-74832000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:74831000-74832200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:74831000-74832200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:74831000-74832200	Weak transcription	Brain Anterior Caudate	brain
39	chr5:74831000-74832400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:74831000-74832400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:74831000-74848000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:74831000-74852600	Weak transcription	Aorta	Aorta
43	chr5:74831000-74859000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:74831000-74862400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:74831200-74832200	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:74831200-74832200	Weak transcription	NHDF-Ad	bronchial
47	chr5:74831200-74832800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:74831200-74835200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:74831200-74848200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:74831200-74848600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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