Variant report

Variant	rs73465854
Chromosome Location	chr6:56361851-56361852
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	chr6:56359297..56362081-chr6:56378593..56380440,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1024196	0.94[EUR][1000 genomes]
rs11963288	0.90[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	0.94[EUR][1000 genomes]
rs1535609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1535611	1.00[EUR][1000 genomes]
rs16887928	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16888070	0.94[EUR][1000 genomes]
rs16888106	0.94[EUR][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[EUR][1000 genomes]
rs41267673	0.94[EUR][1000 genomes]
rs41271848	0.94[EUR][1000 genomes]
rs41271850	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41271854	1.00[EUR][1000 genomes]
rs41271856	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	0.89[EUR][1000 genomes]
rs45442999	1.00[EUR][1000 genomes]
rs45553042	0.89[EUR][1000 genomes]
rs57289287	0.94[EUR][1000 genomes]
rs57350484	0.94[EUR][1000 genomes]
rs57790896	0.94[EUR][1000 genomes]
rs57822928	1.00[EUR][1000 genomes]
rs58565063	0.94[EUR][1000 genomes]
rs58730144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59772940	0.94[EUR][1000 genomes]
rs59864125	1.00[AMR][1000 genomes];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	1.00[EUR][1000 genomes]
rs73455782	1.00[EUR][1000 genomes]
rs73746926	0.94[EUR][1000 genomes]
rs73746929	0.94[EUR][1000 genomes]
rs73747826	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73747832	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73749935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73749942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73749948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73749949	1.00[AMR][1000 genomes];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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7775134	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56308800-56373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:56315600-56371000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:56328600-56362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:56329200-56373800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:56330000-56372400	Weak transcription	Lung	lung
6	chr6:56337600-56364600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:56337600-56376000	Weak transcription	Gastric	stomach
8	chr6:56341800-56407400	Weak transcription	Spleen	Spleen
9	chr6:56344200-56371600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:56344800-56362000	Strong transcription	Fetal Lung	lung
11	chr6:56344800-56372200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:56345000-56384200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:56345800-56362000	Weak transcription	Colonic Mucosa	Colon
14	chr6:56346000-56372400	Weak transcription	Psoas Muscle	Psoas
15	chr6:56347000-56362000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:56347600-56362200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:56347600-56372200	Weak transcription	Right Ventricle	heart
18	chr6:56347800-56362000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:56348200-56371000	Weak transcription	Small Intestine	intestine
20	chr6:56348200-56373400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:56348600-56374600	Strong transcription	Fetal Intestine Large	intestine
22	chr6:56348800-56373400	Weak transcription	Stomach Mucosa	stomach
23	chr6:56349600-56364200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:56350200-56367000	Strong transcription	Liver	Liver
25	chr6:56350400-56370800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:56351800-56386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:56352000-56372600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:56352000-56373600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:56352200-56373800	Weak transcription	Fetal Thymus	thymus
30	chr6:56355000-56362000	Weak transcription	Fetal Kidney	kidney
31	chr6:56355400-56363200	Strong transcription	GM12878-XiMat	blood
32	chr6:56357000-56382600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:56357000-56383600	Strong transcription	NH-A	brain
34	chr6:56357000-56384000	Strong transcription	HSMM	muscle
35	chr6:56357200-56362000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:56357200-56384200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:56357400-56371000	Weak transcription	Fetal Heart	heart
38	chr6:56357600-56362000	Weak transcription	Brain Germinal Matrix	brain
39	chr6:56357600-56365800	Weak transcription	Aorta	Aorta
40	chr6:56357600-56372200	Weak transcription	A549	lung
41	chr6:56357600-56372400	Weak transcription	NHEK	skin
42	chr6:56357800-56362000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:56357800-56362000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:56357800-56362000	Weak transcription	Fetal Intestine Small	intestine
45	chr6:56357800-56362000	Weak transcription	Fetal Stomach	stomach
46	chr6:56357800-56362000	Weak transcription	NHLF	lung
47	chr6:56357800-56362200	Weak transcription	Esophagus	oesophagus
48	chr6:56357800-56372000	Weak transcription	K562	blood
49	chr6:56357800-56372400	Weak transcription	Pancreas	Pancrea
50	chr6:56358000-56362000	Weak transcription	H1 Cell Line	embryonic stem cell

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