Variant report

Variant	rs10053011
Chromosome Location	chr5:50129745-50129746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:50127786..50130617-chr5:50160573..50163072,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10035164	1.00[CHB][hapmap]
rs10036060	1.00[CHB][hapmap]
rs10044566	1.00[CHB][hapmap]
rs10054381	1.00[CHB][hapmap]
rs10056836	1.00[CHB][hapmap]
rs10059085	1.00[CHB][hapmap]
rs10075034	1.00[CHB][hapmap]
rs10085036	1.00[CHB][hapmap]
rs10755235	1.00[CHB][hapmap]
rs10940497	1.00[CHB][hapmap]
rs11750771	1.00[CHB][hapmap]
rs12188262	1.00[CHB][hapmap]
rs12188654	1.00[CHB][hapmap]
rs154137	1.00[CHB][hapmap]
rs154138	1.00[CHB][hapmap]
rs16884018	1.00[CHB][hapmap]
rs169497	0.85[CHB][hapmap]
rs182230	1.00[CHB][hapmap]
rs2354535	1.00[EUR][1000 genomes]
rs2548581	0.85[CHB][hapmap]
rs2548582	1.00[JPT][hapmap]
rs2548583	1.00[JPT][hapmap]
rs256340	1.00[CHB][hapmap]
rs256341	1.00[CHB][hapmap]
rs2594706	1.00[CHB][hapmap]
rs26062	1.00[CHB][hapmap]
rs26065	1.00[CHB][hapmap]
rs26069	1.00[CHB][hapmap]
rs26071	1.00[CHB][hapmap]
rs27156	0.82[ASN][1000 genomes]
rs27244	0.91[ASN][1000 genomes]
rs27389	1.00[CHB][hapmap]
rs27466	0.82[CHB][hapmap]
rs27467	1.00[CHB][hapmap]
rs27468	1.00[CHB][hapmap]
rs27469	1.00[CHB][hapmap]
rs27574	0.82[ASN][1000 genomes]
rs27627	1.00[CHB][hapmap]
rs282550	1.00[CHB][hapmap]
rs282553	1.00[CHB][hapmap]
rs282561	1.00[CHB][hapmap]
rs32376	1.00[CHB][hapmap]
rs32404	1.00[CHB][hapmap]
rs32425	1.00[CHB][hapmap]
rs34653722	1.00[EUR][1000 genomes]
rs39613	1.00[CHB][hapmap]
rs42284	1.00[CHB][hapmap]
rs4865628	1.00[CHB][hapmap]
rs57674462	1.00[EUR][1000 genomes]
rs59087322	1.00[EUR][1000 genomes]
rs59260728	1.00[EUR][1000 genomes]
rs59696604	1.00[EUR][1000 genomes]
rs61302972	1.00[EUR][1000 genomes]
rs6450423	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6861235	1.00[EUR][1000 genomes]
rs6861566	1.00[EUR][1000 genomes]
rs6862932	1.00[EUR][1000 genomes]
rs6872496	1.00[CHB][hapmap]
rs6890519	1.00[CHB][hapmap]
rs6890869	1.00[CHB][hapmap]
rs6894122	1.00[EUR][1000 genomes]
rs73104834	1.00[EUR][1000 genomes]
rs73104836	1.00[EUR][1000 genomes]
rs7700920	1.00[EUR][1000 genomes]
rs7723019	1.00[EUR][1000 genomes]
rs7728126	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50071600-50138200	Weak transcription	Placenta	Placenta
2	chr5:50078200-50140000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:50085400-50136200	Weak transcription	Thymus	Thymus
4	chr5:50091200-50130400	Weak transcription	Pancreas	Pancrea
5	chr5:50091200-50133600	Weak transcription	Lung	lung
6	chr5:50091200-50136000	Weak transcription	Gastric	stomach
7	chr5:50091200-50140600	Weak transcription	Small Intestine	intestine
8	chr5:50096000-50132200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:50100200-50139400	Weak transcription	Ovary	ovary
10	chr5:50104600-50136200	Weak transcription	NHEK	skin
11	chr5:50108000-50135000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:50108200-50142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:50109400-50141800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:50109800-50134400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:50109800-50136400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:50110000-50141800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:50110400-50133400	Strong transcription	Primary B cells from cord blood	blood
18	chr5:50110400-50143400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:50110400-50143600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:50110600-50134600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:50110800-50132000	Weak transcription	Brain Substantia Nigra	brain
22	chr5:50110800-50133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:50110800-50140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:50111000-50140800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:50111200-50141600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:50113000-50139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:50114800-50134000	Weak transcription	Fetal Intestine Small	intestine
28	chr5:50115000-50138000	Weak transcription	Fetal Stomach	stomach
29	chr5:50115400-50133200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:50115800-50133400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:50118200-50130600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:50118600-50139600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:50119200-50131000	Weak transcription	Aorta	Aorta
34	chr5:50119200-50139800	Weak transcription	Spleen	Spleen
35	chr5:50119200-50144200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:50119800-50132800	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:50120200-50133600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:50122200-50135000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:50122600-50130400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:50123200-50132800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:50123600-50132800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:50123800-50131600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:50123800-50137600	Strong transcription	Primary T cells from cord blood	blood
44	chr5:50124200-50145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:50124400-50129800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:50124400-50131000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:50124400-50133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:50124400-50141400	Weak transcription	Fetal Intestine Large	intestine
49	chr5:50124400-50141600	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:50124600-50132800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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