Variant report

Variant	rs7631423
Chromosome Location	chr3:47022143-47022144
allele	A/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	chr3:47022108-47022695	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:47022097-47022149	K562	blood:	n/a	n/a
3	POLR2A	chr3:47021713-47022639	MCF-7	breast:	n/a	n/a
4	FOS	chr3:47022078-47022315	MCF10A-Er-Src	breast:	n/a	chr3:47022187-47022199 chr3:47022189-47022197 chr3:47022188-47022198 chr3:47022188-47022198 chr3:47022188-47022198 chr3:47022190-47022201
5	RUNX3	chr3:47022108-47022317	GM12878	blood:	n/a	n/a
6	RCOR1	chr3:47022130-47022214	K562	blood:	n/a	n/a
7	FOS	chr3:47022053-47022374	MCF10A-Er-Src	breast:	n/a	chr3:47022187-47022199 chr3:47022189-47022197 chr3:47022188-47022198 chr3:47022188-47022198 chr3:47022188-47022198 chr3:47022190-47022201
8	JUND	chr3:47022066-47022322	K562	blood:	n/a	chr3:47022187-47022199 chr3:47022189-47022197 chr3:47022188-47022198 chr3:47022188-47022198 chr3:47022188-47022198 chr3:47022190-47022201
9	EGR1	chr3:47022021-47022342	K562	blood:	n/a	n/a
10	FOS	chr3:47022048-47022358	MCF10A-Er-Src	breast:	n/a	chr3:47022187-47022199 chr3:47022189-47022197 chr3:47022188-47022198 chr3:47022188-47022198 chr3:47022188-47022198 chr3:47022190-47022201
11	EGR1	chr3:47021812-47022345	K562	blood:	n/a	n/a
12	WRNIP1	chr3:47021770-47022416	GM12878	blood:	n/a	n/a
13	HEY1	chr3:47021989-47022416	K562	blood:	n/a	n/a
14	FOS	chr3:47022053-47022362	MCF10A-Er-Src	breast:	n/a	chr3:47022187-47022199 chr3:47022189-47022197 chr3:47022188-47022198 chr3:47022188-47022198 chr3:47022188-47022198 chr3:47022190-47022201
15	MTA3	chr3:47021921-47022309	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:47020574..47023054-chr3:47051075..47053218,2	MCF-7	breast:
2	chr3:47019689..47022693-chr3:47040941..47043835,3	MCF-7	breast:
3	chr3:47019697..47022640-chr3:47324324..47326151,2	K562	blood:

Variant related genes	Relation type
CCDC12	TF binding region
ENSG00000160796	Chromatin interaction
ENSG00000114648	Chromatin interaction
ENSG00000236409	Chromatin interaction
ENSG00000088727	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11706212	0.83[AFR][1000 genomes]
rs12487763	0.83[AFR][1000 genomes]
rs13062185	0.82[AFR][1000 genomes]
rs13079416	0.89[AFR][1000 genomes]
rs13082531	0.83[AFR][1000 genomes]
rs1473382	0.86[AFR][1000 genomes]
rs1563431	0.81[AFR][1000 genomes]
rs2385872	0.83[AFR][1000 genomes]
rs4682832	0.89[AFR][1000 genomes]
rs4682834	0.81[AFR][1000 genomes]
rs4682838	0.81[AFR][1000 genomes]
rs4683279	0.89[AFR][1000 genomes]
rs6442043	0.81[AFR][1000 genomes]
rs6809904	0.85[AFR][1000 genomes]
rs7643868	0.89[AFR][1000 genomes]
rs936177	0.85[AFR][1000 genomes]
rs936180	0.86[AFR][1000 genomes]
rs936181	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1009396	chr3:46994991-47048166	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	esv1800172	chr3:47013346-47049306	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv590209	chr3:47018214-47050784	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv876757	chr3:47018214-47058057	Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
11	esv3359860	chr3:47019973-47022521	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47020400-47022200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr3:47020400-47022200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr3:47020400-47022400	Active TSS	Fetal Kidney	kidney
4	chr3:47020400-47022600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr3:47020400-47022600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr3:47020600-47022200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:47020600-47022200	Active TSS	Left Ventricle	heart
8	chr3:47020600-47022200	Active TSS	Right Atrium	heart
9	chr3:47020600-47022400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:47020600-47022600	Flanking Active TSS	HMEC	breast
11	chr3:47020600-47023800	Active TSS	Rectal Smooth Muscle	rectum
12	chr3:47020800-47022200	Active TSS	Brain Anterior Caudate	brain
13	chr3:47020800-47022200	Active TSS	Stomach Mucosa	stomach
14	chr3:47020800-47022400	Active TSS	Brain Substantia Nigra	brain
15	chr3:47020800-47022400	Active TSS	A549	lung
16	chr3:47021000-47022200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:47021000-47022200	Active TSS	Fetal Lung	lung
18	chr3:47021000-47022200	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr3:47021000-47022400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr3:47021000-47022400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr3:47021000-47022400	Enhancers	Fetal Brain Male	brain
22	chr3:47021000-47022600	Enhancers	Fetal Heart	heart
23	chr3:47021000-47023000	Active TSS	Gastric	stomach
24	chr3:47021400-47022200	Flanking Active TSS	Liver	Liver
25	chr3:47021400-47022600	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr3:47021400-47024200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:47021600-47022200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:47021600-47022200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr3:47021600-47022400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:47021600-47022400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr3:47021600-47022400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr3:47021600-47022400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr3:47021600-47022400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr3:47021600-47022400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr3:47021600-47022400	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr3:47021600-47022400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr3:47021600-47022400	Flanking Active TSS	K562	blood
38	chr3:47021600-47022600	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr3:47021600-47022600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr3:47021600-47022600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr3:47021600-47022600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:47021600-47022600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr3:47021600-47022600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr3:47021600-47022600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:47021600-47022600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:47021600-47022600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:47021600-47022600	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr3:47021600-47022600	Flanking Active TSS	Fetal Thymus	thymus
49	chr3:47021600-47022600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr3:47021600-47022600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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