Variant report

Variant	rs73034472
Chromosome Location	chr1:179997804-179997805
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179995799..179998188-chr1:180047230..180050117,2	MCF-7	breast:
2	chr1:179836382..179837126-chr1:179997727..179998609,3	MCF-7	breast:
3	chr1:179988661..179990796-chr1:179997546..179999054,2	K562	blood:
4	chr1:179994934..179997849-chr1:180033158..180035390,2	MCF-7	breast:
5	chr1:179997743..179998695-chr1:180147682..180148528,2	MCF-7	breast:
6	chr1:179997127..180001716-chr1:180009044..180014069,5	MCF-7	breast:
7	chr1:179980682..179985119-chr1:179997024..179999746,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135837	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs3842887	0.88[AFR][1000 genomes]
rs57875912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58605404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59265893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59508309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60065834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60495007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60594364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61371401	0.84[AFR][1000 genomes]
rs61554984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032356	0.84[AFR][1000 genomes]
rs73032361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036413	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036436	1.00[AFR][1000 genomes]
rs73036437	1.00[AFR][1000 genomes]
rs73036439	0.96[AFR][1000 genomes]
rs73036466	0.88[AFR][1000 genomes]
rs73039980	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73039985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73039997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv872573	chr1:179929388-180093066	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv466228	chr1:179944901-180067988	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv548340	chr1:179944901-180067988	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv520322	chr1:179944901-180071987	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv548341	chr1:179945390-180067914	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv520278	chr1:179945390-180093066	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv548342	chr1:179958809-180067988	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv548343	chr1:179958809-180071987	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv548344	chr1:179960787-180071987	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179941400-180031800	Weak transcription	Spleen	Spleen
2	chr1:179964000-180014200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:179965800-180013200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:179970800-180076800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:179973000-180010800	Weak transcription	Psoas Muscle	Psoas
6	chr1:179976200-180063600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:179979400-179999600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:179979600-180002000	Strong transcription	Fetal Intestine Large	intestine
9	chr1:179979800-179998000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:179979800-179998600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:179979800-179999000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:179979800-179999400	Strong transcription	Fetal Thymus	thymus
13	chr1:179979800-180008400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:179980200-180007800	Strong transcription	Primary B cells from cord blood	blood
15	chr1:179980400-179998200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:179980400-180027400	Strong transcription	Dnd41	blood
17	chr1:179980600-179999000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:179980600-179999200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr1:179980600-179999800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:179980600-180008000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:179981000-180027200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr1:179981000-180059000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:179981600-179998000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:179981600-180012000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:179982400-179998000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:179982400-179999000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:179983000-179998800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:179983000-179999000	Strong transcription	Primary T cells from cord blood	blood
29	chr1:179983200-179998000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:179983600-180083400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:179985600-180024800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:179989000-180000000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:179989000-180008800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:179989200-179999800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:179989800-179998000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:179989800-180034200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:179990000-180010200	Weak transcription	NHEK	skin
38	chr1:179990000-180012000	Weak transcription	Gastric	stomach
39	chr1:179990000-180012200	Weak transcription	Stomach Mucosa	stomach
40	chr1:179990000-180025600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:179990200-180025400	Weak transcription	Pancreas	Pancrea
42	chr1:179990600-180002600	Weak transcription	A549	lung
43	chr1:179990800-180003600	Weak transcription	Small Intestine	intestine
44	chr1:179992000-179998000	Strong transcription	Fetal Intestine Small	intestine
45	chr1:179992400-180001000	Weak transcription	Left Ventricle	heart
46	chr1:179992400-180009200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:179992400-180009200	Weak transcription	HMEC	breast
48	chr1:179992400-180012000	Weak transcription	Right Ventricle	heart
49	chr1:179992400-180031400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:179992400-180032200	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links