Variant report

Variant	rs235365
Chromosome Location	chr21:46198814-46198815
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr21:46198425-46199004	HCT-116	colon:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
2	ARID3A	chr21:46198332-46198817	HepG2	liver:	n/a	n/a
3	FOSL1	chr21:46198329-46199007	HCT-116	colon:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198649-46198658
4	FOXA1	chr21:46198415-46198827	HepG2	liver:	n/a	n/a
5	JUND	chr21:46198142-46198850	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
6	MAX	chr21:46198032-46198873	HCT-116	colon:	n/a	chr21:46198165-46198175 chr21:46198650-46198659
7	MYBL2	chr21:46198354-46198934	HepG2	liver:	n/a	n/a
8	JUND	chr21:46198435-46198838	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
9	GATA3	chr21:46198371-46198862	MCF-7	breast:	n/a	chr21:46198648-46198657 chr21:46198419-46198432
10	SP1	chr21:46198245-46198890	HCT-116	colon:	n/a	n/a
11	RXRA	chr21:46198496-46198842	HepG2	liver:	n/a	n/a
12	JUND	chr21:46198307-46198815	HCT-116	colon:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
13	JUND	chr21:46198192-46198822	K562	blood:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
14	FOSL2	chr21:46198404-46198843	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198649-46198660 chr21:46198649-46198658
15	FOSL2	chr21:46198407-46198835	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198649-46198660 chr21:46198649-46198658
16	MBD4	chr21:46198506-46198877	HepG2	liver:	n/a	n/a
17	NFIC	chr21:46198466-46198942	HepG2	liver:	n/a	n/a
18	CEBPB	chr21:46198010-46198925	HCT-116	colon:	n/a	chr21:46198566-46198579 chr21:46198566-46198577
19	JUN	chr21:46198465-46198840	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198649-46198658
20	MXI1	chr21:46198562-46198825	HepG2	liver:	n/a	n/a
21	FOXA2	chr21:46198483-46198837	HepG2	liver:	n/a	n/a
22	ELF1	chr21:46198522-46198817	HepG2	liver:	n/a	n/a
23	CEBPB	chr21:46198038-46198903	HCT-116	colon:	n/a	chr21:46198566-46198579 chr21:46198566-46198577
24	FOXA1	chr21:46198400-46198832	HepG2	liver:	n/a	n/a
25	FOSL1	chr21:46198315-46198979	HCT-116	colon:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198649-46198658

No.	Distal block	Cell Line	Cell type
1	chr21:46185600..46187229-chr21:46198465..46200138,2	MCF-7	breast:
2	chr21:46185007..46187777-chr21:46197158..46201208,5	MCF-7	breast:
3	chr21:46198042..46200426-chr21:46201214..46204112,4	K562	blood:
4	chr21:46197899..46200792-chr21:46212721..46215023,2	MCF-7	breast:
5	chr21:46191363..46195338-chr21:46195868..46201575,8	MCF-7	breast:
6	chr21:46191842..46194326-chr21:46197473..46199035,2	K562	blood:
7	chr21:46181840..46185418-chr21:46198665..46202269,4	MCF-7	breast:
8	chr21:46197791..46202676-chr21:46204066..46207240,6	MCF-7	breast:
9	chr21:46196931..46199903-chr21:46221899..46224131,2	K562	blood:
10	chr21:45928563..45930238-chr21:46198309..46199884,2	MCF-7	breast:

Variant related genes	Relation type
UBE2G2	TF binding region
ENSG00000184787	Chromatin interaction
ENSG00000236519	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs170959	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170964	1.00[AFR][1000 genomes]
rs173095	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173097	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184634	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235291	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235293	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235335	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235336	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235350	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235355	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235359	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235364	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235367	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235368	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34800103	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611462	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46185800-46199600	Weak transcription	Stomach Mucosa	stomach
2	chr21:46186200-46199400	Weak transcription	Right Atrium	heart
3	chr21:46187000-46213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:46187800-46199000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:46187800-46206200	Strong transcription	Fetal Thymus	thymus
6	chr21:46188000-46199000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:46188000-46201600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr21:46188000-46203000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr21:46188000-46203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:46188000-46208000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr21:46188200-46199000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:46188200-46199800	Strong transcription	Primary T cells from cord blood	blood
13	chr21:46188200-46201600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:46188400-46199400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:46188600-46200200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr21:46188600-46201600	Strong transcription	Fetal Stomach	stomach
17	chr21:46188600-46208000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr21:46189000-46199600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:46189000-46201400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr21:46189200-46203000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:46189600-46199000	Strong transcription	Left Ventricle	heart
23	chr21:46189600-46199200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr21:46189600-46199600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr21:46189600-46199800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr21:46189600-46201800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr21:46189600-46203600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:46189600-46207800	Strong transcription	Dnd41	blood
29	chr21:46190600-46199400	Weak transcription	Fetal Heart	heart
30	chr21:46190800-46199200	Strong transcription	Osteobl	bone
31	chr21:46190800-46209600	Weak transcription	Fetal Brain Male	brain
32	chr21:46191400-46199400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr21:46192800-46200400	Strong transcription	A549	lung
34	chr21:46193400-46212600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr21:46193800-46199000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr21:46193800-46199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:46193800-46206000	Weak transcription	Brain Hippocampus Middle	brain
38	chr21:46193800-46212800	Weak transcription	Psoas Muscle	Psoas
39	chr21:46194200-46200400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr21:46194800-46203200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr21:46195000-46200000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr21:46195000-46211200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr21:46195000-46212600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr21:46195000-46219800	Weak transcription	Small Intestine	intestine
45	chr21:46195200-46200600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr21:46195200-46204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:46195400-46199400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr21:46195400-46220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr21:46195600-46211400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr21:46195800-46203200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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