Variant report

Variant	rs6759975
Chromosome Location	chr2:183992657-183992658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183775532..183777640-chr2:183990491..183993127,2	K562	blood:
2	chr2:183992197..183994349-chr2:184006346..184008645,2	K562	blood:
3	chr2:183989126..183990874-chr2:183990952..183992681,2	MCF-7	breast:
4	chr2:183990685..183993122-chr2:184003291..184005876,2	K562	blood:
5	chr2:183942911..183945636-chr2:183991182..183993608,2	K562	blood:

Variant related genes	Relation type
ENSG00000162999	Chromatin interaction
ENSG00000163002	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11894093	0.95[ASN][1000 genomes]
rs11904060	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12105081	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12989618	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12992879	0.94[ASN][1000 genomes]
rs12993299	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12994342	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13008910	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13023488	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13023969	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13024949	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1316974	0.81[ASN][1000 genomes]
rs1829121	0.83[ASN][1000 genomes]
rs2254866	0.83[ASN][1000 genomes]
rs2705727	0.81[ASN][1000 genomes]
rs34100542	0.90[ASN][1000 genomes]
rs34424877	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34426887	0.81[ASN][1000 genomes]
rs34591399	0.89[EUR][1000 genomes]
rs34743637	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34767214	0.97[ASN][1000 genomes]
rs34921390	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34967913	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35290003	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35479161	0.87[ASN][1000 genomes]
rs35661877	0.94[ASN][1000 genomes]
rs35672629	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35799804	0.94[ASN][1000 genomes]
rs35873918	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36021851	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36054361	0.94[ASN][1000 genomes]
rs36100240	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3748884	0.90[ASN][1000 genomes]
rs3762477	0.94[ASN][1000 genomes]
rs6434007	0.90[ASN][1000 genomes]
rs6434008	0.91[ASN][1000 genomes]
rs6434009	0.91[ASN][1000 genomes]
rs6705625	0.84[ASN][1000 genomes]
rs6705795	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6709753	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6715963	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6724387	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6729425	0.90[ASN][1000 genomes]
rs6730009	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6732406	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6740679	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6748218	0.90[ASN][1000 genomes]
rs6754901	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6754938	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6758182	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71427875	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs71427877	0.94[ASN][1000 genomes]
rs71427878	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71427880	0.83[ASN][1000 genomes]
rs73977848	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7571226	0.81[ASN][1000 genomes]
rs7587081	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7592910	0.97[ASN][1000 genomes]
rs7597557	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9917390	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-183996200	Weak transcription	Lung	lung
2	chr2:183990000-184003600	Weak transcription	Left Ventricle	heart
3	chr2:183990000-184008600	Weak transcription	Esophagus	oesophagus
4	chr2:183990000-184008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
7	chr2:183990200-183993600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:183990200-183995000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:183990200-184008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:183990200-184014200	Weak transcription	HSMMtube	muscle
11	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
12	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:183990600-183994400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:183990600-183995400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:183990600-183995600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:183990600-183995800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:183990600-184010200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
19	chr2:183990800-183993000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:183990800-183994400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:183990800-183994400	Weak transcription	Primary B cells from cord blood	blood
22	chr2:183990800-183995600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:183990800-184000000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
25	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:183991000-183993000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:183991000-183993000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:183991000-183993000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:183991000-183993000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:183991000-183993000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:183991000-183993000	Weak transcription	HSMM	muscle
32	chr2:183991000-183993200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:183991000-183993200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:183991000-183993200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:183991000-183993400	Weak transcription	Psoas Muscle	Psoas
36	chr2:183991000-183993600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:183991000-183993600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:183991000-183993800	Weak transcription	NH-A	brain
39	chr2:183991000-183994200	Weak transcription	Adipose Nuclei	Adipose
40	chr2:183991000-183994400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:183991000-183995000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:183991000-183995200	Weak transcription	Thymus	Thymus
43	chr2:183991000-183995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:183991000-183995600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:183991000-183996000	Weak transcription	Fetal Heart	heart
46	chr2:183991000-184008000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:183991000-184008400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:183991000-184013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:183991000-184018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:183991000-184018400	Weak transcription	Gastric	stomach

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