Variant report

Variant	rs73046783
Chromosome Location	chr1:184595513-184595514
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184595300..184598106-chr1:184610588..184612513,2	K562	blood:
2	chr1:184592564..184595965-chr1:184599184..184603170,4	MCF-7	breast:
3	chr1:184580848..184583559-chr1:184594169..184597015,2	MCF-7	breast:
4	chr1:184595106..184596755-chr1:184645371..184647352,2	MCF-7	breast:
5	chr1:184586812..184591239-chr1:184591803..184597596,5	K562	blood:
6	chr1:184593353..184595615-chr1:184598577..184600166,2	K562	blood:

Variant related genes	Relation type
ENSG00000252790	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs16823189	1.00[EUR][1000 genomes]
rs16823192	1.00[EUR][1000 genomes]
rs16823216	1.00[EUR][1000 genomes]
rs16823452	1.00[EUR][1000 genomes]
rs16823480	1.00[EUR][1000 genomes]
rs16823513	1.00[EUR][1000 genomes]
rs2181240	1.00[EUR][1000 genomes]
rs2224030	1.00[EUR][1000 genomes]
rs28521358	1.00[EUR][1000 genomes]
rs35543943	1.00[EUR][1000 genomes]
rs56385425	1.00[EUR][1000 genomes]
rs56707979	1.00[EUR][1000 genomes]
rs56796054	1.00[EUR][1000 genomes]
rs58307611	1.00[EUR][1000 genomes]
rs58814142	1.00[EUR][1000 genomes]
rs60807093	1.00[EUR][1000 genomes]
rs61372488	1.00[EUR][1000 genomes]
rs6664204	1.00[EUR][1000 genomes]
rs6668105	1.00[EUR][1000 genomes]
rs6670740	1.00[EUR][1000 genomes]
rs6694683	1.00[EUR][1000 genomes]
rs73046716	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs73048805	1.00[AMR][1000 genomes]
rs73063511	1.00[EUR][1000 genomes]
rs73063520	1.00[EUR][1000 genomes]
rs73063529	1.00[EUR][1000 genomes]
rs73063555	1.00[EUR][1000 genomes]
rs7413163	1.00[EUR][1000 genomes]
rs74131665	1.00[EUR][1000 genomes]
rs74131666	1.00[EUR][1000 genomes]
rs74131668	1.00[EUR][1000 genomes]
rs74132003	1.00[EUR][1000 genomes]
rs74132025	1.00[EUR][1000 genomes]
rs74132034	1.00[EUR][1000 genomes]
rs74132036	1.00[EUR][1000 genomes]
rs74132037	1.00[EUR][1000 genomes]
rs74132038	1.00[EUR][1000 genomes]
rs74132050	1.00[EUR][1000 genomes]
rs74134139	1.00[EUR][1000 genomes]
rs7521888	1.00[EUR][1000 genomes]
rs7526101	1.00[EUR][1000 genomes]
rs7528332	1.00[EUR][1000 genomes]
rs7541371	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1008237	chr1:184583205-184609820	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv528925	chr1:184583294-184596584	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184573600-184598800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:184578600-184598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:184580800-184605000	Weak transcription	Fetal Brain Female	brain
4	chr1:184581000-184598800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:184581000-184602200	Weak transcription	Brain Germinal Matrix	brain
6	chr1:184585000-184599600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:184585200-184597600	Weak transcription	Fetal Brain Male	brain
8	chr1:184585200-184611600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:184589200-184597200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:184589800-184596200	Enhancers	Psoas Muscle	Psoas
11	chr1:184589800-184598800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:184590600-184597200	Enhancers	Left Ventricle	heart
13	chr1:184590800-184596600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:184590800-184602200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:184590800-184602800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:184591000-184596600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:184591400-184596400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:184591600-184595800	Enhancers	Placenta	Placenta
19	chr1:184592000-184595600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:184592000-184596000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:184592000-184596200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:184592000-184596400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:184592000-184598800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:184592000-184602400	Weak transcription	Gastric	stomach
25	chr1:184592200-184598400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:184592200-184599600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:184592200-184602400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:184592200-184602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:184592200-184604800	Weak transcription	Brain Angular Gyrus	brain
30	chr1:184592200-184615800	Weak transcription	Aorta	Aorta
31	chr1:184592400-184595600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:184592400-184598800	Weak transcription	NHLF	lung
33	chr1:184592800-184597400	Strong transcription	Fetal Intestine Small	intestine
34	chr1:184592800-184598800	Weak transcription	Fetal Heart	heart
35	chr1:184593400-184595600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:184593400-184596400	Enhancers	Right Atrium	heart
37	chr1:184593400-184597800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:184593600-184597800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:184593800-184596400	Enhancers	NHEK	skin
40	chr1:184593800-184602600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:184594000-184598800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:184594200-184595600	Enhancers	Fetal Lung	lung
43	chr1:184594200-184595800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:184594200-184598400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:184594200-184598400	Weak transcription	NHDF-Ad	bronchial
46	chr1:184594200-184599000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:184594200-184599800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:184594400-184596000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:184594400-184601600	Weak transcription	HMEC	breast
50	chr1:184594600-184595600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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