Variant report

Variant	rs721475
Chromosome Location	chr6:56348730-56348731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr6:56348483-56349258	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr6:56348553-56349241	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr6:56348547-56349174	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr6:56348622-56348799	ProgFib	skin:	n/a	n/a
5	FOSL2	chr6:56348590-56349248	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr6:56348558-56349259	SK-N-SH	brain:	n/a	n/a
7	JUND	chr6:56348573-56349106	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr6:56348647-56349153	SK-N-SH	brain:	n/a	n/a
9	FOS	chr6:56348729-56349102	MCF10A-Er-Src	breast:	n/a	n/a
10	PBX3	chr6:56348664-56349108	SK-N-SH	brain:	n/a	n/a
11	EP300	chr6:56348565-56349295	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr6:56348706-56348773	GM12878	blood:	n/a	n/a
13	JUND	chr6:56348623-56349162	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr6:56348622-56349085	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr6:56348598-56349133	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56347410..56349603-chr6:56406568..56408277,2	K562	blood:
2	chr6:56340912..56343256-chr6:56347717..56349911,2	MCF-7	breast:
3	chr6:56347192..56349659-chr6:56354834..56357164,3	K562	blood:
4	chr6:56347192..56349659-chr6:56354834..56357986,4	K562	blood:

No data

Variant related genes	Relation type
DST	TF binding region
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs11753813	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758339	0.92[ASN][1000 genomes]
rs11759493	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11961668	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12174955	0.88[ASN][1000 genomes]
rs12527139	0.83[ASN][1000 genomes]
rs13194746	0.81[EUR][1000 genomes]
rs13204556	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1359068	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1359070	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535612	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1570492	0.94[ASN][1000 genomes]
rs16887974	0.81[EUR][1000 genomes]
rs2273972	0.88[ASN][1000 genomes]
rs2273973	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273974	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2397226	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34954984	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35671304	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35926142	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3927453	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4130060	0.86[ASN][1000 genomes]
rs4143827	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4236139	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4236141	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4236142	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4236143	0.81[ASN][1000 genomes]
rs4283892	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4329120	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4331988	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4346846	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4454141	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4466244	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4472350	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4473850	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4499917	0.85[ASN][1000 genomes]
rs4544910	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45486696	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4715625	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4715626	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4715627	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4715628	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4715629	0.83[EUR][1000 genomes]
rs4715631	0.81[EUR][1000 genomes]
rs59101638	0.87[ASN][1000 genomes]
rs6459161	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6459163	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6904202	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6906792	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6907917	0.83[ASN][1000 genomes]
rs6913572	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6914184	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6919608	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6922770	0.84[EUR][1000 genomes]
rs6927258	0.89[ASN][1000 genomes]
rs6928601	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72877350	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7741295	0.85[ASN][1000 genomes]
rs7743011	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7746753	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755220	0.82[ASN][1000 genomes]
rs7755361	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7755573	0.81[ASN][1000 genomes]
rs7758054	0.83[ASN][1000 genomes]
rs7759875	0.83[EUR][1000 genomes]
rs7760640	0.83[EUR][1000 genomes]
rs7762629	0.83[ASN][1000 genomes]
rs9296848	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9296849	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9296850	0.83[ASN][1000 genomes]
rs9349822	0.81[ASN][1000 genomes]
rs9349823	0.89[ASN][1000 genomes]
rs9349824	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9349825	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9349826	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9357921	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9357922	0.83[ASN][1000 genomes]
rs9370531	0.92[ASN][1000 genomes]
rs9370534	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9370535	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9382631	0.94[ASN][1000 genomes]
rs9382635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9396211	0.81[ASN][1000 genomes]
rs9396213	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9396214	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9396215	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9396218	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9464389	0.87[ASN][1000 genomes]
rs9475709	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9475713	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9475714	0.82[AMR][1000 genomes];0.89[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	chr6:56315000-56349800	Strong transcription	HSMM	muscle
3	chr6:56315600-56371000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:56322200-56349200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:56327200-56351400	Weak transcription	Fetal Thymus	thymus
6	chr6:56328600-56362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:56329200-56373800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:56330000-56351400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:56330000-56372400	Weak transcription	Lung	lung
10	chr6:56330200-56357400	Weak transcription	Esophagus	oesophagus
11	chr6:56332800-56349200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:56333000-56350000	Strong transcription	HMEC	breast
13	chr6:56334400-56359400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:56337600-56350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:56337600-56351400	Weak transcription	Aorta	Aorta
16	chr6:56337600-56351400	Weak transcription	Pancreas	Pancrea
17	chr6:56337600-56364600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:56337600-56376000	Weak transcription	Gastric	stomach
19	chr6:56339800-56354400	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:56339800-56355800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:56341600-56351400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:56341800-56407400	Weak transcription	Spleen	Spleen
23	chr6:56342400-56353200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:56343200-56351400	Weak transcription	Brain Angular Gyrus	brain
25	chr6:56343600-56349400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:56344200-56371600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:56344600-56348800	Strong transcription	HSMMtube	muscle
28	chr6:56344600-56351800	Weak transcription	A549	lung
29	chr6:56344600-56354200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:56344800-56351400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:56344800-56352800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:56344800-56354400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:56344800-56362000	Strong transcription	Fetal Lung	lung
34	chr6:56344800-56372200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:56345000-56351400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:56345000-56384200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:56345400-56349400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:56345400-56350000	Weak transcription	Fetal Brain Female	brain
39	chr6:56345600-56349400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:56345600-56356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:56345800-56362000	Weak transcription	Colonic Mucosa	Colon
42	chr6:56346000-56349600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr6:56346000-56372400	Weak transcription	Psoas Muscle	Psoas
44	chr6:56346200-56351200	Weak transcription	Ovary	ovary
45	chr6:56346400-56350400	Strong transcription	Fetal Brain Male	brain
46	chr6:56346600-56348800	Genic enhancers	Duodenum Mucosa	Duodenum
47	chr6:56347000-56348800	Enhancers	Stomach Mucosa	stomach
48	chr6:56347000-56362000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:56347400-56351400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr6:56347400-56351400	Weak transcription	Brain Germinal Matrix	brain

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