Variant report

Variant	rs71324987
Chromosome Location	chr3:49723750-49723751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr3:49723750-49724734	H1-hESC	embryonic stem cell:	n/a	n/a
2	EBF1	chr3:49723704-49723971	GM12878	blood:	n/a	n/a
3	TAF1	chr3:49723221-49724844	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:49723711-49724551	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr3:49723738-49724212	HepG2	liver:	n/a	n/a
6	POLR2A	chr3:49723697-49724625	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:49721456-49727648	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr3:49723734-49725129	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:49717503-49727239	HepG2	liver:	n/a	n/a
10	EBF1	chr3:49723738-49723908	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:49720128-49724935	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:49722602-49725401	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZBTB33	chr3:49723668-49724629	K562	blood:	n/a	n/a
14	POLR2A	chr3:49716580-49724829	HepG2	liver:	n/a	n/a
15	POLR2A	chr3:49723657-49724615	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr3:49723681-49723795	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:49723668-49724165	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr3:49723747-49724071	HCT-116	colon:	n/a	n/a
19	POLR2A	chr3:49723743-49724205	U87	brain:	n/a	n/a
20	POU2F2	chr3:49723701-49724861	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:49723134-49724607	A549	lung:	n/a	n/a
22	TAF1	chr3:49723406-49724769	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr3:49723739-49724949	H1-hESC	embryonic stem cell:	n/a	n/a
24	CBX3	chr3:49723474-49724174	K562	blood:	n/a	n/a
25	GABPA	chr3:49723735-49724080	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr3:49723743-49723998	U87	brain:	n/a	n/a
27	HEY1	chr3:49718256-49727412	HepG2	liver:	n/a	n/a
28	POLR2A	chr3:49722625-49725083	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr3:49723674-49724099	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr3:49721241-49724664	GM12892	blood:	n/a	n/a
31	TEAD4	chr3:49723603-49724557	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr3:49721694-49724714	GM12878	blood:	n/a	n/a
33	FOSL2	chr3:49723695-49727217	HepG2	liver:	n/a	n/a
34	POLR2A	chr3:49723741-49724547	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49715211..49719699-chr3:49722366..49724649,4	K562	blood:
2	chr3:49722536..49724153-chr3:49724898..49727146,2	MCF-7	breast:
3	chr3:49710552..49715225-chr3:49718907..49727364,14	MCF-7	breast:
4	chr1:17086818..17089262-chr3:49723617..49726310,2	MCF-7	breast:
5	chr3:49711727..49717769-chr3:49722772..49726950,7	K562	blood:
6	chr1:16964923..16974624-chr3:49722461..49732046,16	K562	blood:
7	chr3:49720877..49722933-chr3:49723247..49725096,3	K562	blood:
8	chr3:49719726..49722448-chr3:49723596..49725872,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259970	TF binding region
MST1	TF binding region
RNF123	TF binding region
ENSG00000164068	Chromatin interaction
ENSG00000186715	Chromatin interaction
ENSG00000173531	Chromatin interaction
ENSG00000215908	Chromatin interaction
ENSG00000259970	Chromatin interaction
ENSG00000164062	Chromatin interaction
ENSG00000186301	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13061156	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13071087	0.87[AMR][1000 genomes]
rs13100791	0.87[AMR][1000 genomes]
rs3206653	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35620248	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs36116071	0.87[AMR][1000 genomes]
rs61745903	1.00[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	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1825898	chr3:49688948-49764849	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv1808511	chr3:49689880-49744825	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv820990	chr3:49720651-49735911	Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv12377	chr3:49720751-49735851	Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv11877	chr3:49721171-49727086	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv471425	chr3:49721381-49726196	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv482080	chr3:49721381-49726196	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv822077	chr3:49721400-49734526	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1825475	chr3:49722732-49734243	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49712200-49723800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:49712800-49726200	Weak transcription	Small Intestine	intestine
3	chr3:49713000-49723800	Weak transcription	Fetal Heart	heart
4	chr3:49714600-49723800	Strong transcription	Liver	Liver
5	chr3:49717400-49723800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:49717600-49723800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:49719000-49726200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:49719800-49724400	Weak transcription	NHDF-Ad	bronchial
9	chr3:49720200-49723800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:49720600-49726200	Weak transcription	A549	lung
11	chr3:49721000-49726200	Weak transcription	HSMM	muscle
12	chr3:49721400-49723800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:49721400-49723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:49721400-49724400	Weak transcription	Brain Angular Gyrus	brain
15	chr3:49721400-49725800	Weak transcription	Hela-S3	cervix
16	chr3:49721400-49725800	Weak transcription	K562	blood
17	chr3:49721400-49726400	Weak transcription	Aorta	Aorta
18	chr3:49721600-49723800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:49721600-49723800	Weak transcription	GM12878-XiMat	blood
20	chr3:49721600-49726200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:49721800-49723800	Weak transcription	Primary T cells from cord blood	blood
22	chr3:49722000-49723800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:49722000-49724600	Weak transcription	Brain Anterior Caudate	brain
24	chr3:49722000-49724600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:49722200-49723800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:49722200-49723800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:49722400-49723800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:49722400-49726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:49723000-49723800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr3:49723000-49723800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:49723000-49723800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:49723000-49723800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:49723000-49723800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:49723000-49724200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
35	chr3:49723000-49724400	Active TSS	Pancreas	Pancrea
36	chr3:49723000-49724600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:49723000-49724600	Active TSS	Fetal Kidney	kidney
38	chr3:49723000-49725000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:49723200-49723800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:49723200-49723800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:49723200-49723800	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr3:49723200-49723800	Bivalent Enhancer	Fetal Thymus	thymus
43	chr3:49723200-49723800	Bivalent Enhancer	Left Ventricle	heart
44	chr3:49723200-49723800	Enhancers	Ovary	ovary
45	chr3:49723200-49723800	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr3:49723200-49723800	Enhancers	Right Ventricle	heart
47	chr3:49723200-49723800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr3:49723200-49723800	Enhancers	HMEC	breast
49	chr3:49723200-49724000	Active TSS	Brain Hippocampus Middle	brain
50	chr3:49723200-49724000	Bivalent Enhancer	Stomach Mucosa	stomach

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