Variant report

Variant	rs73780530
Chromosome Location	chr6:144652839-144652840
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144651662..144654238-chr6:144661982..144664850,2	MCF-7	breast:
2	chr6:144651682..144653859-chr6:144654087..144657651,4	MCF-7	breast:
3	chr6:144641867..144643569-chr6:144651499..144653037,2	MCF-7	breast:
4	chr6:144605652..144608306-chr6:144651410..144654181,2	MCF-7	breast:
5	chr6:144652090..144653631-chr6:144659810..144661477,2	MCF-7	breast:
6	chr6:144604459..144608309-chr6:144650515..144653848,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225311	Chromatin interaction
ENSG00000152818	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55751309	0.84[AFR][1000 genomes]
rs55842866	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57632768	1.00[AMR][1000 genomes]
rs57945244	1.00[AMR][1000 genomes]
rs58244219	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58476463	1.00[AMR][1000 genomes]
rs58595212	1.00[AMR][1000 genomes]
rs58683489	0.84[AFR][1000 genomes]
rs60593456	1.00[AMR][1000 genomes]
rs60800156	1.00[AMR][1000 genomes]
rs61128349	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61224948	1.00[AMR][1000 genomes]
rs73780542	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780543	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780545	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780546	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7766619	0.92[AFR][1000 genomes];1.00[AMR][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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144636000-144656200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:144636600-144654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:144636800-144654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:144636800-144656400	Weak transcription	Brain Substantia Nigra	brain
5	chr6:144639600-144660200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:144642200-144654800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:144642200-144655200	Weak transcription	Thymus	Thymus
8	chr6:144642200-144659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:144643600-144656400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:144643800-144663000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:144646400-144655200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:144646800-144654600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:144648200-144661200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
15	chr6:144649400-144660000	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:144650000-144653400	Enhancers	Ovary	ovary
17	chr6:144650200-144653200	Enhancers	Adipose Nuclei	Adipose
18	chr6:144650400-144653200	Enhancers	Fetal Heart	heart
19	chr6:144650600-144653400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:144650600-144653600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:144650800-144653400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:144650800-144653400	Enhancers	Left Ventricle	heart
23	chr6:144650800-144653400	Enhancers	Stomach Mucosa	stomach
24	chr6:144650800-144653600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:144650800-144653600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:144651000-144653000	Enhancers	Fetal Muscle Leg	muscle
27	chr6:144651000-144653200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:144651000-144653200	Enhancers	Right Atrium	heart
29	chr6:144651000-144653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:144651200-144653000	Enhancers	Right Ventricle	heart
31	chr6:144651200-144653200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr6:144651200-144653400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:144651200-144653400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:144651200-144654600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr6:144651400-144653200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:144651400-144654600	Weak transcription	HUVEC	blood vessel
37	chr6:144651400-144655800	Weak transcription	Liver	Liver
38	chr6:144651400-144656600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:144651600-144653000	Weak transcription	Gastric	stomach
40	chr6:144651600-144653200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:144651600-144653600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:144651600-144659800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:144651800-144653000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr6:144651800-144653000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:144651800-144653000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:144651800-144653200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr6:144651800-144653200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr6:144651800-144653200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr6:144651800-144653200	Flanking Active TSS	NHEK	skin
50	chr6:144651800-144654800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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