Variant report

Variant	rs7646772
Chromosome Location	chr3:23847670-23847671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr3:23847311-23847746	K562	blood:	n/a	n/a
2	POLR2A	chr3:23847303-23847689	HUVEC	blood vessel:	n/a	n/a
3	ELF1	chr3:23847338-23847805	GM12878	blood:	n/a	chr3:23847473-23847486
4	ZBTB7A	chr3:23846976-23848886	ECC-1	luminal epithelium:	n/a	chr3:23847207-23847216
5	POLR2A	chr3:23847206-23847808	Gliobla	brain:	n/a	n/a
6	POLR2A	chr3:23847228-23847670	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr3:23847252-23847756	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:23847190-23847733	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr3:23847200-23847692	A549	lung:	n/a	n/a
10	POLR2A	chr3:23847356-23847692	MCF10A-Er-Src	breast:	n/a	n/a
11	ZBTB7A	chr3:23846979-23848956	K562	blood:	n/a	chr3:23847207-23847216
12	SMARCB1	chr3:23847167-23848809	Hela-S3	cervix:	n/a	n/a
13	MAX	chr3:23847177-23847712	A549	lung:	n/a	n/a
14	BHLHE40	chr3:23847053-23847799	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:23847270-23847863	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:23847329-23847700	GM12878	blood:	n/a	n/a
17	HEY1	chr3:23847312-23847699	K562	blood:	n/a	n/a
18	MAX	chr3:23847231-23847885	K562	blood:	n/a	chr3:23847810-23847820
19	RUNX3	chr3:23847241-23847699	GM12878	blood:	n/a	n/a
20	POLR2A	chr3:23847160-23847783	SK-N-MC	brain:	n/a	n/a
21	EBF1	chr3:23847443-23848095	GM12878	blood:	n/a	chr3:23847919-23847929 chr3:23847918-23847929
22	POLR2A	chr3:23847260-23847755	GM12878	blood:	n/a	n/a
23	HEY1	chr3:23847278-23847728	HepG2	liver:	n/a	n/a
24	CHD2	chr3:23847062-23847796	GM12878	blood:	n/a	n/a
25	MYC	chr3:23847067-23847705	K562	blood:	n/a	n/a
26	CHD2	chr3:23847336-23848315	K562	blood:	n/a	n/a
27	POLR2A	chr3:23847152-23847687	PFSK-1	brain:	n/a	n/a
28	CTCF	chr3:23847540-23847690	GM12869	blood:	n/a	n/a
29	POLR2A	chr3:23847113-23849021	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr3:23847344-23847684	GM12891	blood:	n/a	n/a
31	YY1	chr3:23847320-23847684	K562	blood:	n/a	n/a
32	GABPA	chr3:23847239-23847698	MCF-7	breast:	n/a	n/a
33	POLR2A	chr3:23847119-23847852	K562	blood:	n/a	n/a
34	POLR2A	chr3:23847317-23847758	HEK293	kidney:	n/a	n/a
35	BCLAF1	chr3:23847184-23847768	GM12878	blood:	n/a	n/a
36	JUND	chr3:23847343-23847739	A549	lung:	n/a	n/a
37	MYC	chr3:23847199-23847697	MCF-7	breast:	n/a	n/a
38	REST	chr3:23847291-23847688	HL-60	blood:	n/a	n/a
39	CREB1	chr3:23847162-23847775	GM12878	blood:	n/a	n/a
40	POLR2A	chr3:23847338-23847683	A549	lung:	n/a	n/a
41	POLR2A	chr3:23847264-23847756	IMR90	lung:	n/a	n/a
42	POLR2A	chr3:23847188-23847811	GM12892	blood:	n/a	n/a
43	POLR2A	chr3:23847171-23847780	GM12878	blood:	n/a	n/a
44	POLR2A	chr3:23847229-23847694	K562	blood:	n/a	n/a
45	TAF1	chr3:23847254-23847708	GM12878	blood:	n/a	n/a
46	POLR2A	chr3:23847230-23848839	GM12892	blood:	n/a	n/a
47	EGR1	chr3:23847262-23847686	GM12878	blood:	n/a	n/a
48	CCNT2	chr3:23847378-23848866	K562	blood:	n/a	chr3:23847925-23847934
49	TBP	chr3:23846849-23847693	K562	blood:	n/a	n/a
50	POLR2A	chr3:23847188-23847702	H1-neurons	neurons:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23846193..23848940-chr3:24535065..24537255,2	K562	blood:
2	chr3:23846380..23850116-chr3:23956700..23960461,6	MCF-7	breast:
3	chr3:23243031..23244851-chr3:23845499..23848237,2	MCF-7	breast:
4	chr3:23846531..23848270-chr3:23987055..23988984,2	MCF-7	breast:
5	chr3:23845112..23848622-chr3:23958029..23961906,4	K562	blood:
6	chr3:23845393..23848355-chr3:23958587..23960710,4	K562	blood:

No data

Variant related genes	Relation type
UBE2E1	TF binding region
ENSG00000151090	Chromatin interaction
ENSG00000233153	Chromatin interaction
ENSG00000182247	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000228791	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3378886	chr3:23846373-23849821	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	9 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	chr3:23846800-23847800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:23846800-23848400	Active TSS	Brain Germinal Matrix	brain
3	chr3:23846800-23848600	Active TSS	Fetal Stomach	stomach
4	chr3:23846800-23848600	Active TSS	NH-A	brain
5	chr3:23846800-23848800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:23846800-23848800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:23846800-23848800	Active TSS	Primary T cells from cord blood	blood
8	chr3:23846800-23848800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:23846800-23848800	Active TSS	Adipose Nuclei	Adipose
10	chr3:23846800-23848800	Active TSS	Brain Anterior Caudate	brain
11	chr3:23846800-23848800	Active TSS	Fetal Brain Female	brain
12	chr3:23846800-23848800	Active TSS	HSMMtube	muscle
13	chr3:23846800-23848800	Active TSS	HUVEC	blood vessel
14	chr3:23846800-23849000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:23846800-23849000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr3:23846800-23849000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:23846800-23849000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:23846800-23849000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:23846800-23849000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr3:23846800-23849000	Active TSS	Brain Hippocampus Middle	brain
21	chr3:23846800-23849000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:23846800-23849000	Active TSS	Colonic Mucosa	Colon
23	chr3:23846800-23849000	Active TSS	Stomach Smooth Muscle	stomach
24	chr3:23846800-23849000	Active TSS	NHLF	lung
25	chr3:23846800-23849200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:23846800-23849200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr3:23846800-23849200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:23846800-23849200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr3:23846800-23849200	Active TSS	Aorta	Aorta
30	chr3:23846800-23849200	Active TSS	Brain Angular Gyrus	brain
31	chr3:23846800-23849200	Active TSS	Brain Cingulate Gyrus	brain
32	chr3:23846800-23849200	Active TSS	Colon Smooth Muscle	Colon
33	chr3:23846800-23849200	Active TSS	Fetal Muscle Trunk	muscle
34	chr3:23846800-23849200	Active TSS	Left Ventricle	heart
35	chr3:23846800-23849200	Active TSS	Psoas Muscle	Psoas
36	chr3:23846800-23849200	Active TSS	Right Ventricle	heart
37	chr3:23846800-23849400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:23846800-23849400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr3:23846800-23849400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr3:23847000-23847800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr3:23847000-23848600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:23847000-23848600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr3:23847000-23848600	Active TSS	Placenta	Placenta
44	chr3:23847000-23848800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr3:23847000-23848800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr3:23847000-23848800	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr3:23847000-23848800	Active TSS	HSMM	muscle
48	chr3:23847000-23849000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr3:23847000-23849000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:23847000-23849000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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