Variant report

Variant	rs7724741
Chromosome Location	chr5:112126328-112126329
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	chr5:112123801..112127041-chr5:112128309..112132302,4	K562	blood:
2	chr5:112123613..112127041-chr5:112129146..112132302,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11948681	1.00[EUR][1000 genomes]
rs11950732	1.00[EUR][1000 genomes]
rs11951744	1.00[AMR][1000 genomes]
rs11953322	1.00[EUR][1000 genomes]
rs11960216	0.92[ASN][1000 genomes]
rs17134903	1.00[AMR][1000 genomes]
rs17134945	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17134960	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2289485	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887380	1.00[EUR][1000 genomes]
rs60088629	1.00[EUR][1000 genomes]
rs62626346	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6867422	1.00[EUR][1000 genomes]
rs6868149	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874953	1.00[AMR][1000 genomes]
rs6876301	1.00[EUR][1000 genomes]
rs6882890	1.00[AMR][1000 genomes]
rs6888572	1.00[EUR][1000 genomes]
rs6892175	1.00[AMR][1000 genomes]
rs6895054	1.00[AMR][1000 genomes]
rs7703109	1.00[AMR][1000 genomes]
rs7731851	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
4	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:112093400-112128600	Weak transcription	Ovary	ovary
6	chr5:112093400-112128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:112094200-112128600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:112094200-112128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:112097800-112127000	Weak transcription	Esophagus	oesophagus
11	chr5:112098000-112128600	Weak transcription	HepG2	liver
12	chr5:112098200-112128600	Weak transcription	Aorta	Aorta
13	chr5:112098200-112129800	Weak transcription	Spleen	Spleen
14	chr5:112098400-112130000	Weak transcription	Fetal Heart	heart
15	chr5:112098600-112131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:112104600-112128600	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
20	chr5:112104800-112128000	Weak transcription	Hela-S3	cervix
21	chr5:112104800-112130800	Weak transcription	Stomach Mucosa	stomach
22	chr5:112105000-112128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:112105000-112128600	Weak transcription	Thymus	Thymus
24	chr5:112108200-112129200	Weak transcription	NH-A	brain
25	chr5:112108400-112130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:112110400-112128800	Weak transcription	Brain Angular Gyrus	brain
27	chr5:112111000-112128600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:112112200-112128400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:112112200-112128400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:112114000-112128400	Weak transcription	HSMMtube	muscle
31	chr5:112115600-112134600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr5:112115600-112140000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr5:112115800-112151200	Weak transcription	NHEK	skin
34	chr5:112116000-112128200	Weak transcription	HMEC	breast
35	chr5:112116000-112128200	Weak transcription	Osteobl	bone
36	chr5:112116200-112126800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:112116800-112129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:112117000-112130200	Weak transcription	K562	blood
39	chr5:112117800-112128400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:112118000-112126800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:112118000-112127000	Weak transcription	Left Ventricle	heart
42	chr5:112118000-112128400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr5:112118000-112128600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:112118200-112126600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:112118200-112126800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:112118200-112126800	Weak transcription	HSMM	muscle
47	chr5:112118200-112128400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:112118200-112128400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:112118200-112128600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr5:112118200-112128600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links