Variant report

Variant	rs73032303
Chromosome Location	chr5:7849861-7849862
allele	G/T
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	SIN3A	chr5:7849859-7850600	H1-hESC	embryonic stem cell:	n/a	chr5:7850037-7850048
2	RAD21	chr5:7849688-7850320	H1-hESC	embryonic stem cell:	n/a	chr5:7849926-7849938 chr5:7850138-7850157 chr5:7850147-7850156 chr5:7850001-7850015
3	CTCF	chr5:7849720-7849870	HRE	kidney:	n/a	chr5:7849763-7849772
4	E2F6	chr5:7849741-7850257	H1-hESC	embryonic stem cell:	n/a	chr5:7849940-7849952 chr5:7849941-7849948 chr5:7849941-7849948 chr5:7849941-7849948 chr5:7850062-7850074
5	MAX	chr5:7849708-7850344	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:7849833-7849911	H1-hESC	embryonic stem cell:	n/a	chr5:7849883-7849896
7	RAD21	chr5:7849670-7850378	H1-hESC	embryonic stem cell:	n/a	chr5:7849926-7849938 chr5:7850138-7850157 chr5:7850147-7850156 chr5:7850001-7850015
8	E2F6	chr5:7849518-7850395	H1-hESC	embryonic stem cell:	n/a	chr5:7849940-7849952 chr5:7850372-7850381 chr5:7849941-7849948 chr5:7849941-7849948 chr5:7849941-7849948 chr5:7850062-7850074
9	CTCF	chr5:7849800-7849950	HAc	cerebellar:	n/a	chr5:7849883-7849896
10	MAX	chr5:7849735-7850194	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:7849836-7849886	K562	blood:	n/a
2	chr5:7849836-7849886	GM12878	blood:	n/a
3	chr5:7849836-7849886	IMR90	lung:	fetal
4	chr5:7849836-7849886	HIPEpiC	eye:	n/a
5	chr5:7849836-7849886	HMEC	breast:	n/a
6	chr5:7849836-7849886	HRPEpiC	eye:	n/a
7	chr5:7849836-7849886	GM12892	blood:	n/a
8	chr5:7849836-7849886	RPTEC	kidney:	n/a
9	chr5:7849836-7849886	MCF-7	breast:	n/a
10	chr5:7849836-7849886	BE2_C	brain:	n/a
11	chr5:7849836-7849886	GM06990	blood:	n/a
12	chr5:7849836-7849886	PFSK-1	brain:	n/a
13	chr5:7849836-7849886	NHBE	bronchial:	n/a
14	chr5:7849836-7849886	BJ	skin:	n/a
15	chr5:7849836-7849886	GM19239	blood:	n/a
16	chr5:7849836-7849886	SK-N-SH_RA	brain:	n/a
17	chr5:7849836-7849886	NHDF-neo	bronchial:	n/a
18	chr5:7849836-7849886	T-47D	breast:	n/a
19	chr5:7849836-7849886	HRCEpiC	kidney:	n/a
20	chr5:7849836-7849886	AoSMC	blood vessel:	n/a
21	chr5:7849836-7849886	ECC-1	luminal epithelium:	n/a
22	chr5:7849836-7849886	HCF	heart:	n/a
23	chr5:7849836-7849886	HRE	kidney:	n/a
24	chr5:7849836-7849886	SK-N-SH	brain:	n/a
25	chr5:7849836-7849886	Caco-2	colon:	n/a
26	chr5:7849836-7849886	SKMC	muscle:	n/a
27	chr5:7849836-7849886	NB4	blood:	n/a
28	chr5:7849836-7849886	AG09319	gingival:	n/a
29	chr5:7849836-7849886	AG09309	skin:	n/a
30	chr5:7849836-7849886	HCPEpiC	choroid plexus:	n/a
31	chr5:7849836-7849886	SK-N-MC	brain:	n/a
32	chr5:7849836-7849886	PrEC	prostate:	n/a
33	chr5:7849836-7849886	HepG2	liver:	n/a
34	chr5:7849836-7849886	AG04450	lung:	fetal
35	chr5:7849836-7849886	AG10803	skin:	n/a
36	chr5:7849836-7849886	PANC-1	pancreas:	n/a
37	chr5:7849836-7849886	HL-60	blood:	n/a
38	chr5:7849836-7849886	Hela-S3	cervix:	n/a
39	chr5:7849836-7849886	HEK293	kidney:	embryo
40	chr5:7849836-7849886	Jurkat	blood:	n/a
41	chr5:7849836-7849886	HUVEC	blood vessel:	n/a
42	chr5:7849836-7849886	SAEC	small airway:	n/a
43	chr5:7849836-7849886	CMK	blood:	n/a
44	chr5:7849836-7849886	HNPCEpiC	eye:	n/a
45	chr5:7849836-7849886	LNCaP	prostate:	n/a
46	chr5:7849836-7849886	A549	lung:	n/a
47	chr5:7849836-7849886	MCF10A-Er-Src	breast:	n/a
48	chr5:7849836-7849886	Hepatocyte	liver:	n/a
49	chr5:7849836-7849886	HCT-116	colon:	n/a
50	chr5:7849836-7849886	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:
2	chr5:7843515..7845259-chr5:7848179..7851160,2	MCF-7	breast:

Variant related genes	Relation type
MTRR	TF binding region
MTRR	CpG island
ENSG00000124275	Chromatin interaction
ENSG00000124279	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73032305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv461927	chr5:7757812-7854289	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv597004	chr5:7757812-7854289	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3436798	chr5:7849477-7852325	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3440712	chr5:7849552-7852150	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7849000-7850200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:7849000-7851000	Weak transcription	HSMM	muscle
3	chr5:7849400-7850000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:7849400-7850000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:7849400-7850400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:7849600-7850000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
7	chr5:7849600-7850000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
8	chr5:7849600-7850000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr5:7849600-7850000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr5:7849600-7850000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr5:7849600-7850000	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr5:7849600-7850000	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr5:7849600-7850000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:7849600-7850000	Flanking Active TSS	Fetal Brain Female	brain
15	chr5:7849600-7850000	Bivalent Enhancer	Placenta	Placenta
16	chr5:7849600-7850000	Enhancers	Pancreas	Pancrea
17	chr5:7849600-7850000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr5:7849600-7850000	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr5:7849600-7850000	Bivalent Enhancer	NH-A	brain
20	chr5:7849600-7850200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:7849600-7850200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:7849600-7850200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
23	chr5:7849600-7850200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr5:7849600-7850200	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr5:7849600-7850200	Enhancers	Fetal Heart	heart
26	chr5:7849600-7850400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:7849600-7850400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
28	chr5:7849600-7850400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr5:7849600-7850400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
30	chr5:7849600-7851400	Active TSS	Brain Angular Gyrus	brain
31	chr5:7849600-7851800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr5:7849600-7851800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr5:7849800-7850000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:7849800-7850000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:7849800-7850000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:7849800-7850000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr5:7849800-7850000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:7849800-7850000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
39	chr5:7849800-7850000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:7849800-7850000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:7849800-7850000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:7849800-7850000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:7849800-7850000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:7849800-7850000	Enhancers	Aorta	Aorta
45	chr5:7849800-7850000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
46	chr5:7849800-7850000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
47	chr5:7849800-7850000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
48	chr5:7849800-7850000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr5:7849800-7850000	Flanking Active TSS	Fetal Lung	lung
50	chr5:7849800-7850000	Bivalent Enhancer	Fetal Thymus	thymus

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