Variant report

Variant	rs59173114
Chromosome Location	chr1:223972370-223972371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223970124..223971708-chr1:223972032..223973610,2	K562	blood:
2	chr1:223900176..223902216-chr1:223970691..223973184,2	MCF-7	breast:
3	chr1:223962795..223965332-chr1:223971942..223974529,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12038706	1.00[AMR][1000 genomes]
rs16842157	1.00[AMR][1000 genomes]
rs16842168	1.00[AMR][1000 genomes]
rs16842198	1.00[AMR][1000 genomes]
rs28370148	1.00[AMR][1000 genomes]
rs28370168	1.00[AMR][1000 genomes]
rs28370180	1.00[AMR][1000 genomes]
rs28370183	1.00[AMR][1000 genomes]
rs56831338	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57108544	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57153784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58391315	1.00[AMR][1000 genomes]
rs60245976	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60799191	0.89[AFR][1000 genomes]
rs60956486	1.00[AMR][1000 genomes]
rs73114404	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114482	1.00[AMR][1000 genomes]
rs73114500	1.00[AMR][1000 genomes]
rs73115632	1.00[AMR][1000 genomes]
rs73116433	1.00[AMR][1000 genomes]
rs73116444	1.00[AMR][1000 genomes]
rs73116448	1.00[AMR][1000 genomes]
rs73127419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127431	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73128039	1.00[AMR][1000 genomes]
rs73128040	1.00[AMR][1000 genomes]
rs73128044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131132	1.00[AMR][1000 genomes]
rs73131150	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131162	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131164	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:223956800-223974200	Strong transcription	Primary T cells from cord blood	blood
4	chr1:223956800-223974200	Strong transcription	Liver	Liver
5	chr1:223957000-223983400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:223957200-223972800	Strong transcription	Primary B cells from peripheral blood	blood
7	chr1:223959800-223977600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:223960200-223998600	Strong transcription	Fetal Thymus	thymus
9	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:223960600-223986800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:223960600-223995200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:223960600-224001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:223960800-223995400	Weak transcription	GM12878-XiMat	blood
14	chr1:223961800-223977200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:223961800-224004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:223962000-223975000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:223962600-223983600	Weak transcription	Psoas Muscle	Psoas
18	chr1:223962800-223972600	Strong transcription	Primary B cells from cord blood	blood
19	chr1:223963400-223983800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:223964000-223985600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:223964200-223974200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:223964200-223980000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:223964400-223972400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:223964400-223972600	Weak transcription	Right Atrium	heart
25	chr1:223964400-223977200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:223964400-223979600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:223964600-223976800	Weak transcription	Stomach Mucosa	stomach
29	chr1:223964600-223977000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:223965000-223973400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:223965400-223974200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:223965400-223977200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:223965400-223983800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:223966400-223976200	Weak transcription	NHEK	skin
35	chr1:223966600-223983600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:223967800-223979800	Weak transcription	Fetal Brain Male	brain
37	chr1:223968400-223972600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:223968400-223979800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:223968400-223984000	Weak transcription	Colonic Mucosa	Colon
40	chr1:223968600-223983000	Weak transcription	Small Intestine	intestine
41	chr1:223968800-223976000	Weak transcription	Hela-S3	cervix
42	chr1:223969000-223983400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:223969200-223973800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:223969200-223975400	Weak transcription	Brain Germinal Matrix	brain
45	chr1:223969200-223983400	Weak transcription	HepG2	liver
46	chr1:223969800-223972400	Genic enhancers	Brain Substantia Nigra	brain
47	chr1:223969800-223974400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:223969800-223995200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:223970000-223975000	Strong transcription	Fetal Brain Female	brain
50	chr1:223970000-223995200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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