Variant report

Variant	rs2546633
Chromosome Location	chr5:177896044-177896045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177885956..177889656-chr5:177894667..177897889,3	MCF-7	breast:
2	chr5:177894292..177896063-chr5:177897258..177899224,2	K562	blood:
3	chr5:177861063..177863215-chr5:177895852..177898464,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1546222	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17052428	0.97[ASN][1000 genomes]
rs17081346	0.99[ASN][1000 genomes]
rs2133280	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2546632	0.87[ASN][1000 genomes]
rs2546634	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2546635	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2546636	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2546637	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2546638	0.87[ASN][1000 genomes]
rs2546639	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2546641	0.90[EUR][1000 genomes]
rs2647697	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2647698	0.91[ASN][1000 genomes]
rs2647700	0.90[EUR][1000 genomes]
rs2647701	0.90[EUR][1000 genomes]
rs2672823	0.87[ASN][1000 genomes]
rs2672824	0.87[ASN][1000 genomes]
rs2672831	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2672832	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2672833	0.90[EUR][1000 genomes]
rs2672834	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2672835	0.87[ASN][1000 genomes]
rs2672837	0.86[ASN][1000 genomes]
rs2672842	0.90[EUR][1000 genomes]
rs4280893	0.83[EUR][1000 genomes]
rs59608037	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61562605	0.85[ASN][1000 genomes]
rs61693781	0.99[ASN][1000 genomes]
rs66934098	0.95[ASN][1000 genomes]
rs67085711	0.99[ASN][1000 genomes]
rs6868472	0.84[ASN][1000 genomes]
rs6868991	0.84[ASN][1000 genomes]
rs6874551	0.90[EUR][1000 genomes]
rs6887137	0.90[EUR][1000 genomes]
rs72648838	0.84[ASN][1000 genomes]
rs72648839	0.97[ASN][1000 genomes]
rs7706759	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv883213	chr5:177811754-177947771	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1029822	chr5:177872333-177931889	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1033039	chr5:177873974-177926244	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv537971	chr5:177873974-177926244	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1030915	chr5:177880081-177934927	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177887200-177896600	Enhancers	Fetal Stomach	stomach
2	chr5:177887800-177897600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:177890600-177901600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:177891000-177897600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:177892800-177896800	Weak transcription	Fetal Heart	heart
6	chr5:177893400-177897600	Enhancers	Lung	lung
7	chr5:177893600-177896200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:177893600-177896200	Enhancers	Pancreas	Pancrea
9	chr5:177893600-177896400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr5:177893600-177898000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr5:177894000-177896200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:177894000-177897200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:177894200-177896200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:177894200-177896200	Enhancers	Right Ventricle	heart
15	chr5:177894200-177896200	Enhancers	Spleen	Spleen
16	chr5:177894200-177896600	Enhancers	Primary B cells from cord blood	blood
17	chr5:177894400-177896400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:177894400-177899400	Weak transcription	Fetal Intestine Small	intestine
19	chr5:177894600-177897000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:177894600-177902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:177895000-177896400	Enhancers	Duodenum Mucosa	Duodenum
22	chr5:177895200-177901600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:177895400-177896400	Bivalent Enhancer	Placenta	Placenta
24	chr5:177895400-177900400	Weak transcription	Fetal Thymus	thymus
25	chr5:177895600-177896200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr5:177895600-177896200	Weak transcription	Gastric	stomach
27	chr5:177895600-177896600	Enhancers	Stomach Smooth Muscle	stomach
28	chr5:177895600-177896600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:177895600-177896800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:177895600-177896800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:177895600-177897600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr5:177895600-177898000	Enhancers	Fetal Lung	lung
33	chr5:177895800-177898600	Weak transcription	Esophagus	oesophagus
34	chr5:177895800-177901200	Weak transcription	Liver	Liver
35	chr5:177896000-177896200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:177896000-177897200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:177896000-177900600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:177896000-177903600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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