Variant report

Variant	rs73455782
Chromosome Location	chr6:56419314-56419315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56406262..56407921-chr6:56416925..56419390,3	K562	blood:
2	chr6:56413498..56416394-chr6:56417084..56419483,2	K562	blood:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1024196	0.94[EUR][1000 genomes]
rs11963288	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11966986	0.94[EUR][1000 genomes]
rs11967796	0.94[EUR][1000 genomes]
rs11970410	0.94[EUR][1000 genomes]
rs1407831	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1535609	1.00[EUR][1000 genomes]
rs1535611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16887928	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16888070	0.94[EUR][1000 genomes]
rs16888106	0.94[EUR][1000 genomes]
rs17830661	0.87[AFR][1000 genomes]
rs2144407	0.94[EUR][1000 genomes]
rs2180148	0.94[EUR][1000 genomes]
rs2207678	0.94[EUR][1000 genomes]
rs2397224	0.94[EUR][1000 genomes]
rs28633631	0.94[EUR][1000 genomes]
rs3800026	1.00[EUR][1000 genomes]
rs3924307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41267673	0.94[EUR][1000 genomes]
rs41271848	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41271850	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41271854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41271856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41271872	0.94[EUR][1000 genomes]
rs41271876	0.94[EUR][1000 genomes]
rs41271878	0.94[EUR][1000 genomes]
rs4256439	1.00[EUR][1000 genomes]
rs4288197	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs45442999	1.00[EUR][1000 genomes]
rs45553042	0.89[EUR][1000 genomes]
rs56273018	0.83[AFR][1000 genomes]
rs56851245	0.83[AFR][1000 genomes]
rs57289287	0.94[EUR][1000 genomes]
rs57350484	0.94[EUR][1000 genomes]
rs57790896	0.94[EUR][1000 genomes]
rs57822928	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58565063	0.94[EUR][1000 genomes]
rs58730144	1.00[EUR][1000 genomes]
rs59063378	0.87[AFR][1000 genomes]
rs59772940	0.94[EUR][1000 genomes]
rs59864125	1.00[EUR][1000 genomes]
rs62621210	1.00[EUR][1000 genomes]
rs6459167	0.94[EUR][1000 genomes]
rs6459168	0.94[EUR][1000 genomes]
rs6900572	0.94[EUR][1000 genomes]
rs6903517	0.81[EUR][1000 genomes]
rs6903815	0.94[EUR][1000 genomes]
rs6941626	0.94[EUR][1000 genomes]
rs73455767	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73455787	0.87[AFR][1000 genomes]
rs73465854	1.00[EUR][1000 genomes]
rs73745842	0.83[AFR][1000 genomes]
rs73746926	0.94[EUR][1000 genomes]
rs73746929	0.94[EUR][1000 genomes]
rs73747826	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73747832	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73749935	1.00[EUR][1000 genomes]
rs73749942	1.00[EUR][1000 genomes]
rs73749948	1.00[EUR][1000 genomes]
rs73749949	1.00[EUR][1000 genomes]
rs7749100	0.94[EUR][1000 genomes]
rs7759479	0.94[EUR][1000 genomes]
rs7760503	0.94[EUR][1000 genomes]
rs7760515	0.94[EUR][1000 genomes]
rs7760542	0.94[EUR][1000 genomes]
rs7760701	0.94[EUR][1000 genomes]
rs7761027	0.94[EUR][1000 genomes]
rs7769014	1.00[EUR][1000 genomes]
rs7775134	0.94[EUR][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56408200-56419400	Weak transcription	Placenta	Placenta
2	chr6:56408200-56419800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:56408200-56440400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:56408200-56440600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:56408400-56430800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:56411800-56419600	Weak transcription	A549	lung
8	chr6:56413200-56419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:56413800-56458400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:56414000-56419600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:56415400-56427000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:56415800-56419800	Weak transcription	NHEK	skin
13	chr6:56415800-56426000	Weak transcription	Ovary	ovary
14	chr6:56415800-56435200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:56416000-56419600	Weak transcription	Fetal Heart	heart
16	chr6:56416000-56420200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:56416000-56421000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:56416200-56419800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:56416200-56420800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:56416200-56423000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:56416400-56424200	Strong transcription	GM12878-XiMat	blood
22	chr6:56416400-56426800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:56416400-56427000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:56416800-56420600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:56417000-56419600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:56417000-56420400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr6:56417000-56427800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:56417000-56516400	Weak transcription	Pancreas	Pancrea
29	chr6:56417200-56419800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr6:56417200-56420200	Weak transcription	Small Intestine	intestine
31	chr6:56417200-56462000	Weak transcription	Lung	lung
32	chr6:56417200-56481400	Weak transcription	Esophagus	oesophagus
33	chr6:56417400-56419800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:56417400-56419800	Weak transcription	Right Ventricle	heart
35	chr6:56417400-56420600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:56417400-56420800	Strong transcription	Adipose Nuclei	Adipose
37	chr6:56417400-56422200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:56417400-56426400	Strong transcription	HMEC	breast
39	chr6:56417400-56430000	Weak transcription	Fetal Intestine Small	intestine
40	chr6:56417400-56435400	Weak transcription	HepG2	liver
41	chr6:56417600-56419400	Strong transcription	Left Ventricle	heart
42	chr6:56417600-56419800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:56417600-56420000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr6:56417600-56426800	Strong transcription	Liver	Liver
45	chr6:56417800-56419400	Weak transcription	Fetal Brain Female	brain
46	chr6:56417800-56419600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:56417800-56419800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:56417800-56420000	Weak transcription	Brain Germinal Matrix	brain
49	chr6:56417800-56420000	Strong transcription	Brain Substantia Nigra	brain
50	chr6:56417800-56420200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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