Variant report

Variant	rs72843797
Chromosome Location	chr17:60138914-60138915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60078768..60080759-chr17:60137398..60140129,2	MCF-7	breast:
2	chr17:60117240..60120020-chr17:60137315..60140366,3	MCF-7	breast:
3	chr17:60138388..60140363-chr17:60151078..60153588,2	K562	blood:

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	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16945724	0.86[ASN][1000 genomes]
rs16945762	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16945785	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16945823	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28500646	0.88[ASN][1000 genomes]
rs4280312	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66685667	0.88[EUR][1000 genomes]
rs72843762	0.81[ASN][1000 genomes]
rs72843767	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843769	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843770	0.87[ASN][1000 genomes]
rs72843771	0.87[ASN][1000 genomes]
rs72843772	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72843775	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843778	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843782	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72843785	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72843788	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843791	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72843793	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72843801	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72845403	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72845404	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72845405	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72845406	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72845408	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72845420	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72845434	0.89[AMR][1000 genomes]
rs72845437	0.89[AMR][1000 genomes]
rs9910451	0.86[EUR][1000 genomes];0.90[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60098600-60139200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr17:60099400-60139000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:60108000-60141400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:60108800-60139000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:60109000-60141200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:60110600-60139800	Weak transcription	Spleen	Spleen
7	chr17:60111200-60140200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:60111400-60140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:60111400-60141400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:60115000-60140000	Weak transcription	Gastric	stomach
11	chr17:60116000-60139800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:60116200-60139800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:60116600-60139000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr17:60117400-60139200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:60124200-60139200	Weak transcription	Right Ventricle	heart
16	chr17:60126200-60141600	Weak transcription	Esophagus	oesophagus
17	chr17:60129600-60139000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:60129800-60139000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:60129800-60139000	Weak transcription	Fetal Kidney	kidney
20	chr17:60130000-60139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:60130600-60139200	Weak transcription	HUVEC	blood vessel
22	chr17:60133600-60140200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr17:60133800-60140000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:60133800-60140000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr17:60134000-60140000	Weak transcription	Small Intestine	intestine
26	chr17:60134200-60139600	Genic enhancers	HepG2	liver
27	chr17:60134200-60141000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr17:60134600-60140800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr17:60134800-60139200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:60134800-60140000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr17:60135200-60139000	Weak transcription	NHLF	lung
32	chr17:60135200-60139600	Weak transcription	Stomach Mucosa	stomach
33	chr17:60135200-60139800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr17:60135400-60139200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:60135400-60139200	Weak transcription	Adipose Nuclei	Adipose
36	chr17:60135600-60139200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:60135600-60140000	Weak transcription	HSMMtube	muscle
38	chr17:60135800-60139200	Strong transcription	HSMM	muscle
39	chr17:60135800-60139800	Weak transcription	Aorta	Aorta
40	chr17:60136000-60139000	Strong transcription	Fetal Intestine Large	intestine
41	chr17:60136000-60139200	Genic enhancers	Liver	Liver
42	chr17:60136200-60139000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr17:60136200-60139000	Strong transcription	NH-A	brain
44	chr17:60136200-60139200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr17:60136200-60139200	Weak transcription	NHDF-Ad	bronchial
46	chr17:60136400-60139400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr17:60137000-60139000	Strong transcription	Fetal Lung	lung
48	chr17:60137000-60140800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:60137200-60139000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:60137200-60139000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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