Variant report

Variant	rs73737651
Chromosome Location	chr5:7869900-7869901
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	POLR2A	chr5:7868759-7869987	GM12878	blood:	n/a	n/a
2	ELK1	chr5:7869747-7869940	GM12878	blood:	n/a	n/a
3	ZNF263	chr5:7868593-7870261	HEK293-T-REx	kidney:	n/a	n/a
4	POLR2A	chr5:7868733-7869946	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:7868431-7870081	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:7868367-7870981	K562	blood:	n/a	n/a
7	CHD2	chr5:7868598-7869957	Hela-S3	cervix:	n/a	chr5:7868953-7868963
8	HMGN3	chr5:7868896-7869910	K562	blood:	n/a	n/a
9	POLR2A	chr5:7868453-7869910	K562	blood:	n/a	n/a
10	MAX	chr5:7868629-7869991	GM12878	blood:	n/a	chr5:7868883-7868890
11	CUX1	chr5:7869880-7870053	GM12878	blood:	n/a	n/a
12	MAZ	chr5:7868569-7870021	K562	blood:	n/a	chr5:7868883-7868890
13	HA-E2F1	chr5:7868597-7870069	MCF-7	breast:	n/a	chr5:7869163-7869175 chr5:7869196-7869205 chr5:7869468-7869477 chr5:7869680-7869689
14	POLR2A	chr5:7868458-7870040	K562	blood:	n/a	n/a
15	POLR2A	chr5:7868187-7870260	K562	blood:	n/a	n/a
16	UBTF	chr5:7869432-7869956	K562	blood:	n/a	n/a
17	CCNT2	chr5:7868903-7870169	K562	blood:	n/a	n/a
18	POLR2A	chr5:7868767-7869906	K562	blood:	n/a	n/a
19	POLR2A	chr5:7868831-7870016	GM12892	blood:	n/a	n/a
20	POLR2A	chr5:7868539-7870032	Hela-S3	cervix:	n/a	n/a
21	MAX	chr5:7868706-7870014	Hela-S3	cervix:	n/a	chr5:7868883-7868890
22	ELK4	chr5:7869518-7869967	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:7868822-7870098	GM18505	blood:	n/a	n/a
24	UBTF	chr5:7868882-7869958	K562	blood:	n/a	n/a
25	SMARCB1	chr5:7868605-7870027	Hela-S3	cervix:	n/a	n/a
26	ELF1	chr5:7868859-7869950	K562	blood:	n/a	chr5:7869783-7869792 chr5:7869803-7869815 chr5:7869772-7869781 chr5:7869782-7869795 chr5:7869119-7869132
27	POLR2A	chr5:7868335-7870230	GM12891	blood:	n/a	n/a
28	MXI1	chr5:7867903-7870446	SK-N-SH	brain:	n/a	n/a
29	MXI1	chr5:7868446-7869973	HepG2	liver:	n/a	n/a
30	HCFC1	chr5:7868144-7871042	Hela-S3	cervix:	n/a	n/a
31	MAZ	chr5:7868377-7869973	IMR90	lung:	n/a	chr5:7868883-7868890
32	SIN3A	chr5:7868545-7870188	H1-hESC	embryonic stem cell:	n/a	chr5:7869683-7869696
33	POLR2A	chr5:7868618-7869962	GM19099	blood:	n/a	n/a
34	CHD1	chr5:7868911-7870128	GM12878	blood:	n/a	chr5:7868953-7868963
35	MAX	chr5:7868571-7869912	K562	blood:	n/a	chr5:7868883-7868890
36	HA-E2F1	chr5:7868778-7869910	Hela-S3	cervix:	n/a	chr5:7869163-7869175 chr5:7869196-7869205 chr5:7869468-7869477 chr5:7869680-7869689
37	MYC	chr5:7868625-7870342	K562	blood:	n/a	chr5:7868883-7868890
38	MXI1	chr5:7868424-7870235	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:7868875-7869902	GM15510	blood:	n/a	n/a
40	MAX	chr5:7868493-7869939	Hela-S3	cervix:	n/a	chr5:7868883-7868890
41	SMARCC1	chr5:7868499-7870109	Hela-S3	cervix:	n/a	n/a
42	ELF1	chr5:7869541-7869959	K562	blood:	n/a	chr5:7869783-7869792 chr5:7869803-7869815 chr5:7869772-7869781 chr5:7869782-7869795
43	POLR2A	chr5:7868294-7870616	MCF10A-Er-Src	breast:	n/a	n/a
44	SMARCC2	chr5:7868389-7870186	Hela-S3	cervix:	n/a	n/a
45	SIN3A	chr5:7868914-7870136	GM12878	blood:	n/a	chr5:7869683-7869696
46	POLR2A	chr5:7868892-7869913	GM10847	blood:	n/a	n/a
47	POLR2A	chr5:7868314-7870583	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr5:7868539-7870208	PBDE	blood:	n/a	n/a
49	POLR2A	chr5:7868417-7869941	HepG2	liver:	n/a	n/a
50	JUND	chr5:7869783-7870024	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:7867721..7870602-chr5:7899852..7901700,2	MCF-7	breast:
2	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:
3	chr5:7867651..7870301-chr5:7886397..7888680,2	MCF-7	breast:
4	chr11:62572858..62573490-chr5:7869198..7869969,2	NB4	blood:
5	chr5:7867976..7870362-chr5:7899262..7901515,2	K562	blood:

Variant related genes	Relation type
FASTKD3	TF binding region
MTRR	TF binding region
ENSG00000215217	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000124275	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16879236	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16879248	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16879259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3733781	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3776463	0.86[AMR][1000 genomes]
rs3776464	0.86[AMR][1000 genomes]
rs3822444	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822445	0.98[ASN][1000 genomes]
rs73737646	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73737647	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr5:7867800-7870400	Active TSS	A549	lung
2	chr5:7867800-7870800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:7868000-7870000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:7868000-7870000	Active TSS	HSMM	muscle
5	chr5:7868000-7870200	Active TSS	GM12878-XiMat	blood
6	chr5:7868000-7870400	Active TSS	Fetal Intestine Large	intestine
7	chr5:7868000-7870400	Active TSS	K562	blood
8	chr5:7868000-7870400	Active TSS	NHDF-Ad	bronchial
9	chr5:7868200-7870000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:7868200-7870000	Active TSS	Brain Angular Gyrus	brain
11	chr5:7868200-7870000	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr5:7868200-7870200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr5:7868200-7870200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:7868200-7870200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:7868200-7870200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr5:7868200-7870200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:7868200-7870200	Active TSS	Fetal Muscle Leg	muscle
18	chr5:7868200-7870400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:7868200-7870400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:7868200-7870400	Active TSS	HMEC	breast
21	chr5:7868200-7870400	Active TSS	NHLF	lung
22	chr5:7868200-7870600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:7868200-7870600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr5:7868200-7870600	Active TSS	Right Atrium	heart
25	chr5:7868200-7870800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr5:7868200-7870800	Active TSS	Psoas Muscle	Psoas
27	chr5:7868200-7870800	Active TSS	Right Ventricle	heart
28	chr5:7868200-7871000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:7868400-7870000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:7868400-7870000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:7868400-7870000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:7868400-7870000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:7868400-7870000	Active TSS	Brain Germinal Matrix	brain
34	chr5:7868400-7870000	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr5:7868400-7870200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:7868400-7870200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr5:7868400-7870200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:7868400-7870200	Active TSS	Aorta	Aorta
39	chr5:7868400-7870200	Active TSS	Esophagus	oesophagus
40	chr5:7868400-7870200	Active TSS	Fetal Muscle Trunk	muscle
41	chr5:7868400-7870200	Active TSS	Placenta	Placenta
42	chr5:7868400-7870200	Active TSS	Gastric	stomach
43	chr5:7868400-7870200	Active TSS	Left Ventricle	heart
44	chr5:7868400-7870200	Active TSS	Lung	lung
45	chr5:7868400-7870200	Active TSS	Pancreas	Pancrea
46	chr5:7868400-7870200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr5:7868400-7870400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr5:7868400-7870400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr5:7868400-7870400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:7868400-7870400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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