Variant report

Variant	rs72646718
Chromosome Location	chr1:9617682-9617683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9597734..9599433-chr1:9617661..9619736,2	K562	blood:
2	chr1:9605132..9607144-chr1:9615539..9618272,2	K562	blood:
3	chr1:9598531..9601721-chr1:9616337..9618858,3	MCF-7	breast:
4	chr1:9594867..9596553-chr1:9616924..9619437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171612	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10864429	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12022881	0.80[ASN][1000 genomes]
rs12023288	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12037667	0.80[ASN][1000 genomes]
rs12040542	0.80[ASN][1000 genomes]
rs12045459	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12045493	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12070568	0.97[EUR][1000 genomes]
rs28719694	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3923984	0.88[EUR][1000 genomes]
rs4073710	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4423053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4926482	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55655211	0.80[ASN][1000 genomes]
rs55780537	0.80[ASN][1000 genomes]
rs55986711	0.80[ASN][1000 genomes]
rs56026893	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56053581	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57272167	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61782983	0.84[EUR][1000 genomes]
rs6540961	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6540962	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6675436	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6698575	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72646706	0.91[ASN][1000 genomes]
rs72646708	0.91[ASN][1000 genomes]
rs72646709	0.80[ASN][1000 genomes]
rs72646711	0.91[ASN][1000 genomes]
rs72646712	0.80[ASN][1000 genomes]
rs72646713	0.80[ASN][1000 genomes]
rs72646715	0.92[EUR][1000 genomes]
rs7411273	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7544083	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9430152	0.96[EUR][1000 genomes]
rs9430153	0.94[EUR][1000 genomes]
rs9430174	0.92[EUR][1000 genomes]
rs9430180	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9430181	0.88[ASN][1000 genomes]
rs9430183	0.87[ASN][1000 genomes]
rs9430184	0.86[ASN][1000 genomes]
rs9430273	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9430274	0.97[EUR][1000 genomes];0.86[ASN][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	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9600800-9619200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:9601000-9617800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:9601000-9618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:9601000-9621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:9601000-9621400	Weak transcription	A549	lung
6	chr1:9602600-9618200	Weak transcription	Fetal Brain Male	brain
7	chr1:9602600-9621600	Weak transcription	Small Intestine	intestine
8	chr1:9603000-9618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:9603000-9621400	Weak transcription	HUVEC	blood vessel
10	chr1:9608800-9621400	Weak transcription	HSMMtube	muscle
11	chr1:9609400-9618600	Weak transcription	Aorta	Aorta
12	chr1:9609400-9621200	Weak transcription	Colonic Mucosa	Colon
13	chr1:9610200-9620200	Strong transcription	Dnd41	blood
14	chr1:9612000-9617800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:9612800-9618200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:9612800-9621400	Weak transcription	Fetal Brain Female	brain
17	chr1:9613200-9619200	Strong transcription	K562	blood
18	chr1:9613200-9621000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:9613600-9617800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:9613600-9618200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:9613600-9619000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:9613800-9619000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr1:9613800-9619200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:9613800-9619200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:9613800-9619400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr1:9613800-9619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:9613800-9619400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:9613800-9619600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:9613800-9619600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:9613800-9620000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:9613800-9620000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:9613800-9620400	Strong transcription	Fetal Stomach	stomach
33	chr1:9613800-9622400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:9613800-9622600	Strong transcription	Fetal Intestine Small	intestine
35	chr1:9614000-9619000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr1:9614800-9619600	Genic enhancers	HepG2	liver
37	chr1:9615200-9618800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:9615200-9620000	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:9615200-9620200	Strong transcription	Fetal Intestine Large	intestine
40	chr1:9615400-9618800	Strong transcription	Fetal Lung	lung
41	chr1:9615400-9619000	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr1:9615400-9619200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:9615400-9619400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:9615400-9619800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:9615600-9618200	Active TSS	Right Atrium	heart
46	chr1:9615600-9619600	Strong transcription	Primary B cells from cord blood	blood
47	chr1:9615600-9619600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:9615600-9621200	Weak transcription	NHLF	lung
49	chr1:9615800-9618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:9615800-9619200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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