Variant report

Variant	rs56956173
Chromosome Location	chr8:54747684-54747685
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54740899..54743524-chr8:54747224..54749984,3	MCF-7	breast:
2	chr8:54747142..54748805-chr8:54751152..54752673,2	K562	blood:
3	chr8:54746433..54749959-chr8:54754654..54757655,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1031979	0.90[EUR][1000 genomes]
rs1031980	0.92[EUR][1000 genomes]
rs10435587	0.84[EUR][1000 genomes]
rs11996300	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12056486	0.80[EUR][1000 genomes]
rs12056719	0.89[EUR][1000 genomes]
rs12115070	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12234972	0.97[EUR][1000 genomes]
rs1552148	0.97[EUR][1000 genomes]
rs16919507	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16919508	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16919522	0.83[EUR][1000 genomes]
rs16919534	0.81[EUR][1000 genomes]
rs16919563	0.87[EUR][1000 genomes]
rs16919571	0.85[EUR][1000 genomes]
rs16919573	0.85[EUR][1000 genomes]
rs1872063	0.87[EUR][1000 genomes]
rs1905061	0.95[EUR][1000 genomes]
rs2128150	0.83[EUR][1000 genomes]
rs2170444	0.85[EUR][1000 genomes]
rs2376011	0.81[EUR][1000 genomes]
rs3735831	0.97[EUR][1000 genomes]
rs3757954	0.92[EUR][1000 genomes]
rs3824121	0.85[AFR][1000 genomes]
rs41321146	0.84[EUR][1000 genomes]
rs4236945	0.92[EUR][1000 genomes]
rs4737192	0.90[EUR][1000 genomes]
rs4737518	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4737753	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737761	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737764	0.92[EUR][1000 genomes]
rs4737765	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4737821	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4737974	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738025	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738027	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738701	0.81[ASN][1000 genomes]
rs4738916	0.83[EUR][1000 genomes]
rs55682919	0.81[ASN][1000 genomes]
rs56973376	0.83[EUR][1000 genomes]
rs57071607	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57550901	0.80[ASN][1000 genomes]
rs58558817	0.84[EUR][1000 genomes]
rs58970885	0.84[EUR][1000 genomes]
rs6473893	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984257	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986372	0.82[EUR][1000 genomes]
rs6987427	0.83[EUR][1000 genomes]
rs6988009	0.89[EUR][1000 genomes]
rs6988082	0.81[ASN][1000 genomes]
rs6988808	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6988812	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6994851	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997003	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997127	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6999454	0.83[EUR][1000 genomes]
rs7005696	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7006934	0.87[ASN][1000 genomes]
rs7009705	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7018162	0.90[EUR][1000 genomes]
rs73680316	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73680321	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73682549	0.83[EUR][1000 genomes]
rs73682551	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73682552	0.81[ASN][1000 genomes]
rs73682555	0.83[EUR][1000 genomes]
rs73682568	0.88[EUR][1000 genomes]
rs73682570	0.97[EUR][1000 genomes]
rs7843701	0.87[EUR][1000 genomes]
rs900163	0.83[EUR][1000 genomes]
rs958268	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9643480	0.84[EUR][1000 genomes]
rs9643819	0.84[EUR][1000 genomes]
rs9643820	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54687600-54753600	Weak transcription	A549	lung
2	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:54713000-54750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:54720600-54752400	Weak transcription	Small Intestine	intestine
6	chr8:54724800-54754800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:54728200-54752200	Weak transcription	Stomach Mucosa	stomach
8	chr8:54732600-54752800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:54734400-54748200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:54735200-54752800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:54735200-54753200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:54735800-54753600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:54736200-54752800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:54737600-54749400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:54737600-54752800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr8:54737800-54750400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:54737800-54752800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:54738000-54750200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:54738200-54749400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr8:54738200-54752600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr8:54738600-54750600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr8:54738600-54751600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:54738600-54751600	Strong transcription	Dnd41	blood
24	chr8:54738600-54751800	Strong transcription	Primary T cells from cord blood	blood
25	chr8:54738600-54753000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:54738600-54753800	Strong transcription	Fetal Thymus	thymus
27	chr8:54738800-54754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:54738800-54755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:54739200-54752800	Strong transcription	Fetal Intestine Large	intestine
30	chr8:54739400-54749000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:54741000-54750200	Weak transcription	Pancreas	Pancrea
32	chr8:54741200-54751800	Weak transcription	Fetal Heart	heart
33	chr8:54741200-54754000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:54741600-54753600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:54741600-54753800	Weak transcription	Right Ventricle	heart
36	chr8:54741800-54747800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:54741800-54748400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:54741800-54750200	Weak transcription	Esophagus	oesophagus
39	chr8:54741800-54751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:54741800-54751600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:54741800-54752200	Weak transcription	Aorta	Aorta
42	chr8:54741800-54753400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:54741800-54754800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:54742000-54753400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:54742000-54753600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:54742000-54753800	Weak transcription	Colonic Mucosa	Colon
47	chr8:54742600-54748200	Weak transcription	Brain Substantia Nigra	brain
48	chr8:54743000-54751800	Weak transcription	NHDF-Ad	bronchial
49	chr8:54743200-54753600	Strong transcription	Primary B cells from cord blood	blood
50	chr8:54743800-54753400	Weak transcription	HUVEC	blood vessel

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