Variant report

Variant	rs57822928
Chromosome Location	chr6:56414642-56414643
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56406850..56409641-chr6:56410586..56415474,8	K562	blood:
2	chr6:56406220..56410337-chr6:56413126..56418049,5	MCF-7	breast:
3	chr6:56413498..56416394-chr6:56417084..56419483,2	K562	blood:
4	chr6:56414327..56416748-chr6:56421847..56423517,2	K562	blood:
5	chr6:56410167..56412439-chr6:56412999..56414699,2	K562	blood:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

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	0.84[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]
rs4585566	0.92[AFR][1000 genomes]
rs56273018	0.81[AFR][1000 genomes]
rs56851245	0.88[AFR][1000 genomes]
rs57289287	0.94[EUR][1000 genomes]
rs57350484	0.94[EUR][1000 genomes]
rs57790896	0.94[EUR][1000 genomes]
rs58565063	0.94[EUR][1000 genomes]
rs58633665	0.92[AFR][1000 genomes]
rs58730144	1.00[EUR][1000 genomes]
rs59063378	0.84[AFR][1000 genomes]
rs59772940	0.94[EUR][1000 genomes]
rs59864125	1.00[EUR][1000 genomes]
rs59948116	0.92[AFR][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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73455782	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73465854	1.00[EUR][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]
rs73749957	0.92[AFR][1000 genomes]
rs73749958	0.92[AFR][1000 genomes]
rs73749960	0.92[AFR][1000 genomes]
rs73749980	0.92[AFR][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:5 , 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	nsv1016868	chr6:56376165-56417631	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56408200-56415200	Weak transcription	Right Atrium	heart
2	chr6:56408200-56415400	Weak transcription	Ovary	ovary
3	chr6:56408200-56416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:56408200-56416600	Weak transcription	Left Ventricle	heart
5	chr6:56408200-56416800	Weak transcription	Brain Germinal Matrix	brain
6	chr6:56408200-56416800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:56408200-56417000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:56408200-56417000	Weak transcription	Fetal Brain Female	brain
9	chr6:56408200-56417200	Weak transcription	Fetal Brain Male	brain
10	chr6:56408200-56417400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:56408200-56419400	Weak transcription	Placenta	Placenta
12	chr6:56408200-56419800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:56408200-56440400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:56408200-56440600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:56408400-56414800	Weak transcription	Adipose Nuclei	Adipose
17	chr6:56408400-56415600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:56408400-56416200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:56408400-56416200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:56408400-56416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:56408400-56416400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:56408400-56416600	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:56408400-56416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:56408400-56416800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:56408400-56416800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:56408400-56416800	Weak transcription	Fetal Stomach	stomach
27	chr6:56408400-56417400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:56408400-56417400	Weak transcription	HMEC	breast
29	chr6:56408400-56430800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:56408600-56415200	Weak transcription	HSMMtube	muscle
31	chr6:56408600-56417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:56408600-56417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:56409000-56415200	Weak transcription	NHEK	skin
34	chr6:56409000-56416000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:56409000-56416200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:56409000-56416800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:56409400-56416000	Weak transcription	HepG2	liver
38	chr6:56409400-56416000	Weak transcription	NH-A	brain
39	chr6:56409400-56416400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:56409600-56415400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:56409600-56416200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:56410000-56415400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:56410200-56417000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:56410800-56415400	Enhancers	Colon Smooth Muscle	Colon
45	chr6:56411400-56417400	Enhancers	Brain Substantia Nigra	brain
46	chr6:56411800-56419600	Weak transcription	A549	lung
47	chr6:56412000-56417600	Enhancers	Brain Anterior Caudate	brain
48	chr6:56412200-56414800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:56412800-56415200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:56412800-56418000	Enhancers	Rectal Smooth Muscle	rectum

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