Variant report

Variant	rs10474482
Chromosome Location	chr5:75867210-75867211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75861596..75864384-chr5:75866146..75868439,3	K562	blood:
2	chr5:75826263..75829016-chr5:75865983..75867633,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10041515	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10043064	0.82[AMR][1000 genomes]
rs10044688	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10051729	0.87[AMR][1000 genomes]
rs10065424	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10073592	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10080190	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10942784	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13355881	0.81[AMR][1000 genomes]
rs1501690	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2134190	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2173926	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2202114	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2840106	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3776768	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3797380	0.80[ASN][1000 genomes]
rs4704326	0.81[AMR][1000 genomes]
rs4704330	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4704332	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4704333	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4704336	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6453231	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6453232	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6869692	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6889411	0.83[ASN][1000 genomes]
rs7713954	0.81[AMR][1000 genomes]
rs905162	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs905163	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs905164	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9654416	0.93[AMR][1000 genomes];0.93[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	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS 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	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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	2 gene(s)	inside rSNPs	diseases
8	nsv598681	chr5:75863987-75902533	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75835600-75871200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:75843800-75884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:75845400-75876600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:75846800-75902600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:75851800-75892000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:75852800-75877800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:75852800-75877800	Weak transcription	Small Intestine	intestine
8	chr5:75853200-75896400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:75856400-75873000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:75858800-75876600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:75859000-75873200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:75859000-75878600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:75860800-75872000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:75861200-75872200	Weak transcription	Fetal Lung	lung
15	chr5:75861200-75889600	Weak transcription	Fetal Stomach	stomach
16	chr5:75861400-75878600	Weak transcription	Pancreas	Pancrea
17	chr5:75862200-75885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:75862400-75867600	Weak transcription	Fetal Brain Male	brain
19	chr5:75862600-75873600	Weak transcription	HepG2	liver
20	chr5:75862600-75877800	Weak transcription	K562	blood
21	chr5:75862800-75880200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:75863400-75872800	Weak transcription	Gastric	stomach
23	chr5:75864600-75867400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:75864600-75876200	Weak transcription	Stomach Mucosa	stomach
25	chr5:75864600-75876600	Weak transcription	Fetal Intestine Small	intestine
26	chr5:75864600-75878200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:75864800-75878200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:75865400-75885800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:75865600-75868000	Strong transcription	Placenta	Placenta
30	chr5:75866000-75867800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:75866000-75873400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:75866200-75868000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:75866200-75868000	Strong transcription	Liver	Liver
34	chr5:75866200-75869000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:75866400-75868200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:75866600-75867600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:75866600-75867600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:75866600-75867600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:75866600-75868400	Enhancers	Primary B cells from peripheral blood	blood
40	chr5:75866800-75867600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:75866800-75871000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr5:75867000-75867400	Weak transcription	Primary T cells from cord blood	blood
43	chr5:75867000-75867400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:75867000-75868000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr5:75867000-75868000	Enhancers	Primary B cells from cord blood	blood
46	chr5:75867000-75868000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr5:75867000-75868200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr5:75867200-75867400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:75867200-75868000	Genic enhancers	Primary hematopoietic stem cells	blood
50	chr5:75867200-75868000	Enhancers	GM12878-XiMat	blood

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