Variant report

Variant	rs72746967
Chromosome Location	chr5:41838576-41838577
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41837142..41840023-chr5:41841015..41842990,3	K562	blood:
2	chr5:41835392..41837022-chr5:41838545..41840862,2	K562	blood:

Variant related genes	Relation type
ENSG00000083720	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11738956	0.89[AMR][1000 genomes]
rs72746926	1.00[AMR][1000 genomes]
rs72746928	0.84[AMR][1000 genomes]
rs72746930	0.84[AMR][1000 genomes]
rs72746932	1.00[AMR][1000 genomes]
rs72746933	0.84[AMR][1000 genomes]
rs72746952	0.84[AMR][1000 genomes]
rs72746962	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72746966	1.00[AMR][1000 genomes]
rs72746968	0.84[AMR][1000 genomes]
rs72746974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72746975	0.84[AMR][1000 genomes]
rs72746995	0.84[AMR][1000 genomes]
rs72746997	1.00[AMR][1000 genomes]
rs72747001	0.84[AMR][1000 genomes]
rs72748620	1.00[AMR][1000 genomes]
rs72748626	0.89[AMR][1000 genomes]
rs72748630	0.89[AMR][1000 genomes]
rs72761834	0.88[AMR][1000 genomes]
rs9686665	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41800800-41838600	Weak transcription	Fetal Stomach	stomach
2	chr5:41801000-41849200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:41801200-41849200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:41801200-41849200	Weak transcription	Fetal Brain Male	brain
5	chr5:41814000-41842200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:41816200-41838600	Weak transcription	NHEK	skin
7	chr5:41818400-41852000	Weak transcription	Small Intestine	intestine
8	chr5:41819200-41852800	Weak transcription	Pancreas	Pancrea
9	chr5:41822600-41849200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:41824600-41859400	Weak transcription	Spleen	Spleen
11	chr5:41825800-41849200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:41827800-41849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:41828600-41849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:41828800-41849000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:41829000-41838800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:41829400-41851000	Weak transcription	Fetal Intestine Small	intestine
17	chr5:41830000-41843400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:41830800-41849200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:41830800-41849800	Weak transcription	Gastric	stomach
20	chr5:41831200-41849200	Weak transcription	Brain Germinal Matrix	brain
21	chr5:41831200-41854400	Weak transcription	Colonic Mucosa	Colon
22	chr5:41831400-41849200	Weak transcription	Placenta	Placenta
23	chr5:41832200-41849200	Weak transcription	Fetal Kidney	kidney
24	chr5:41832400-41842400	Weak transcription	Fetal Lung	lung
25	chr5:41832400-41842600	Weak transcription	K562	blood
26	chr5:41832600-41838800	Weak transcription	Lung	lung
27	chr5:41832800-41838800	Weak transcription	Thymus	Thymus
28	chr5:41832800-41849200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:41832800-41850000	Weak transcription	Esophagus	oesophagus
30	chr5:41832800-41869200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:41833400-41849200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:41833600-41838800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:41833800-41839000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:41834000-41849200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:41834200-41839600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:41834600-41849200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:41835800-41843200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:41835800-41845600	Strong transcription	Dnd41	blood
39	chr5:41836000-41857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr5:41836200-41839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:41836200-41839800	Weak transcription	HMEC	breast
42	chr5:41836200-41849200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:41836400-41838600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:41836400-41838600	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:41836400-41841200	Weak transcription	Aorta	Aorta
46	chr5:41836400-41841200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:41836400-41841400	Weak transcription	NHLF	lung
48	chr5:41836400-41842600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:41836400-41843600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:41836400-41849200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links