Variant report

Variant	rs72843793
Chromosome Location	chr17:60131044-60131045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60099767..60102259-chr17:60130440..60133314,2	MCF-7	breast:
2	chr17:60125809..60127843-chr17:60128789..60132797,3	MCF-7	breast:
3	chr17:60128527..60131258-chr3:15246063..15247729,2	MCF-7	breast:
4	chr17:60123757..60127581-chr17:60130272..60133772,4	K562	blood:

Variant related genes	Relation type
ENSG00000131375	Chromatin interaction
ENSG00000230524	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10221202	0.87[ASN][1000 genomes]
rs1045196	0.86[ASN][1000 genomes]
rs10512491	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16945724	0.86[ASN][1000 genomes]
rs16945762	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16945785	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16945823	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28500646	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4280312	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66685667	0.84[EUR][1000 genomes]
rs72843762	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72843767	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843769	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843770	0.87[ASN][1000 genomes]
rs72843771	0.87[ASN][1000 genomes]
rs72843772	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72843775	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843778	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843782	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843785	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843788	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72843791	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72843797	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72843801	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72845403	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72845404	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72845405	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72845406	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72845408	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72845420	0.84[AMR][1000 genomes]
rs72845434	0.84[AMR][1000 genomes]
rs72845437	0.84[AMR][1000 genomes]
rs9910451	0.90[EUR][1000 genomes];0.92[ASN][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	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
2	chr17:60098600-60139200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:60098800-60135000	Strong transcription	Dnd41	blood
4	chr17:60099000-60134200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:60099400-60139000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:60108000-60141400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:60108800-60139000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:60109000-60141200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:60110600-60135200	Weak transcription	Aorta	Aorta
10	chr17:60110600-60139800	Weak transcription	Spleen	Spleen
11	chr17:60111000-60133800	Weak transcription	Pancreas	Pancrea
12	chr17:60111200-60140200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:60111400-60138400	Weak transcription	Fetal Brain Male	brain
14	chr17:60111400-60140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:60111400-60141400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:60115000-60140000	Weak transcription	Gastric	stomach
17	chr17:60115400-60131400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:60115400-60135000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr17:60116000-60139800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:60116200-60139800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr17:60116400-60133800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:60116600-60139000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:60117200-60133800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:60117200-60136800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr17:60117400-60139200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:60118000-60135000	Strong transcription	Placenta	Placenta
27	chr17:60118200-60131200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:60119800-60136800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr17:60120000-60133600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:60120600-60136800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:60121000-60133600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:60121600-60136800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:60123400-60133800	Weak transcription	HSMMtube	muscle
34	chr17:60124000-60134000	Weak transcription	Brain Hippocampus Middle	brain
35	chr17:60124000-60136800	Weak transcription	Fetal Heart	heart
36	chr17:60124200-60133000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:60124200-60135400	Weak transcription	Right Atrium	heart
38	chr17:60124200-60139200	Weak transcription	Right Ventricle	heart
39	chr17:60125000-60133800	Weak transcription	Psoas Muscle	Psoas
40	chr17:60125800-60131400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:60126200-60132600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr17:60126200-60133000	Weak transcription	Lung	lung
43	chr17:60126200-60133800	Weak transcription	Left Ventricle	heart
44	chr17:60126200-60141600	Weak transcription	Esophagus	oesophagus
45	chr17:60126400-60131200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr17:60126600-60136600	Weak transcription	Colonic Mucosa	Colon
47	chr17:60127200-60132600	Weak transcription	Ovary	ovary
48	chr17:60127600-60133600	Strong transcription	HSMM	muscle
49	chr17:60127800-60132400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:60128400-60131200	Genic enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links