Variant report

Variant	rs6714484
Chromosome Location	chr2:46771134-46771135
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	SIN3A	chr2:46770178-46771433	H1-hESC	embryonic stem cell:	n/a	chr2:46770355-46770368
2	ZEB1	chr2:46770839-46771202	GM12878	blood:	n/a	n/a
3	CEBPB	chr2:46771125-46771619	IMR90	lung:	n/a	chr2:46771247-46771255
4	CEBPB	chr2:46771043-46771815	A549	lung:	n/a	chr2:46771247-46771255
5	POLR2A	chr2:46768784-46771617	GM18951	blood:	n/a	n/a
6	TBL1XR1	chr2:46771076-46771564	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:46770707-46771561	K562	blood:	n/a	n/a
8	NFYB	chr2:46770751-46771821	GM12878	blood:	n/a	chr2:46771351-46771366 chr2:46771352-46771362 chr2:46771318-46771333 chr2:46771243-46771255 chr2:46771319-46771329 chr2:46771244-46771257
9	ZBTB7A	chr2:46770227-46771455	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr2:46771133-46771299	MCF-7	breast:	n/a	n/a
11	EP300	chr2:46771068-46771508	SK-N-SH_RA	brain:	n/a	chr2:46771414-46771422 chr2:46771121-46771131 chr2:46771488-46771502
12	REST	chr2:46770461-46771647	H1-neurons	neurons:	n/a	n/a
13	MTA3	chr2:46770460-46771376	GM12878	blood:	n/a	n/a
14	NFYA	chr2:46771116-46771667	Hela-S3	cervix:	n/a	chr2:46771352-46771362 chr2:46771345-46771363 chr2:46771243-46771255 chr2:46771319-46771329 chr2:46771244-46771257
15	PML	chr2:46770733-46771686	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:46770983-46771565	U87	brain:	n/a	n/a
17	ZBTB7A	chr2:46770245-46771406	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr2:46771040-46771315	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr2:46771000-46771378	HCT-116	colon:	n/a	n/a
20	BRCA1	chr2:46771086-46771205	GM12878	blood:	n/a	n/a
21	RCOR1	chr2:46770927-46771592	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:46770764-46771808	GM12878	blood:	n/a	n/a
23	FOXM1	chr2:46770850-46771615	GM12878	blood:	n/a	n/a
24	EBF1	chr2:46770993-46771581	GM12878	blood:	n/a	chr2:46771521-46771530
25	POLR2A	chr2:46768678-46773017	GM12892	blood:	n/a	n/a
26	NFYB	chr2:46770887-46771860	K562	blood:	n/a	chr2:46771351-46771366 chr2:46771352-46771362 chr2:46771318-46771333 chr2:46771243-46771255 chr2:46771319-46771329 chr2:46771244-46771257
27	SP1	chr2:46771056-46771528	H1-hESC	embryonic stem cell:	n/a	n/a
28	MEF2A	chr2:46771011-46771543	GM12878	blood:	n/a	chr2:46771266-46771275
29	MXI1	chr2:46770537-46771776	GM12878	blood:	n/a	n/a
30	JUND	chr2:46771038-46771471	A549	lung:	n/a	n/a
31	POLR2A	chr2:46768782-46771856	GM18526	blood:	n/a	n/a
32	POLR2A	chr2:46770477-46777171	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:46770659-46771608	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr2:46771133-46771257	A549	lung:	n/a	n/a
35	RFX5	chr2:46770190-46772854	SK-N-SH	brain:	n/a	chr2:46770339-46770347
36	NFYA	chr2:46771042-46771589	K562	blood:	n/a	chr2:46771352-46771362 chr2:46771345-46771363 chr2:46771243-46771255 chr2:46771319-46771329 chr2:46771244-46771257
37	CUX1	chr2:46771110-46771505	GM12878	blood:	n/a	n/a
38	SP1	chr2:46771056-46771572	GM12878	blood:	n/a	n/a
39	ARID3A	chr2:46771023-46771512	K562	blood:	n/a	n/a
40	NFIC	chr2:46770980-46771549	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:46770565-46771912	GM12878	blood:	n/a	n/a
42	CTCF	chr2:46771100-46771250	HCPEpiC	choroid plexus:	n/a	n/a
43	CTBP2	chr2:46770225-46771435	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr2:46771116-46771251	A549	lung:	n/a	n/a
45	POLR2A	chr2:46770854-46771720	U87	brain:	n/a	n/a
46	FOXM1	chr2:46770980-46771630	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr2:46770993-46771426	MCF-7	breast:	n/a	n/a
48	JUND	chr2:46770981-46771492	H1-hESC	embryonic stem cell:	n/a	n/a
49	STAT5A	chr2:46770471-46771774	GM12878	blood:	n/a	n/a
50	ATF2	chr2:46771105-46771603	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:46724349..46729821-chr2:46769212..46772070,6	MCF-7	breast:
2	chr2:46770485..46772962-chr2:46842113..46844264,3	MCF-7	breast:
3	chr2:46769235..46772209-chr2:46814826..46816628,2	K562	blood:
4	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:
5	chr2:46770414..46772957-chr2:46801807..46804486,2	MCF-7	breast:
6	chr2:46768702..46771490-chr2:47403057..47405507,2	MCF-7	breast:
7	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:
8	chr2:46767796..46769414-chr2:46769669..46772927,3	MCF-7	breast:
9	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
10	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:

Variant related genes	Relation type
ATP6V1E2	TF binding region
ENSG00000119878	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000253515	Chromatin interaction
ENSG00000151665	Chromatin interaction
ENSG00000250565	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1376405	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053900	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3754552	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952832	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6747288	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7565377	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7568909	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS 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	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3376216	chr2:46768673-46771221	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3327037	chr2:46768973-46771821	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3411568	chr2:46768998-46771471	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3374486	chr2:46768998-46771796	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	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	chr2:46768400-46771800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:46768600-46771200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:46768600-46771400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:46768600-46771400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:46768600-46771600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:46768800-46771200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:46768800-46771200	Active TSS	Ovary	ovary
8	chr2:46768800-46771400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:46768800-46771400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:46768800-46771400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:46768800-46771400	Active TSS	Brain Angular Gyrus	brain
12	chr2:46768800-46771400	Active TSS	Colon Smooth Muscle	Colon
13	chr2:46768800-46771400	Active TSS	Fetal Kidney	kidney
14	chr2:46769000-46771200	Active TSS	Psoas Muscle	Psoas
15	chr2:46769000-46771400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:46769000-46771400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:46769000-46771400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:46769000-46771400	Active TSS	Primary T cells from cord blood	blood
19	chr2:46769000-46771400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:46769000-46771400	Active TSS	Brain Anterior Caudate	brain
21	chr2:46769000-46771400	Active TSS	Brain Hippocampus Middle	brain
22	chr2:46769000-46771400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:46769000-46771400	Active TSS	Fetal Lung	lung
24	chr2:46769000-46771400	Active TSS	Pancreas	Pancrea
25	chr2:46769000-46771400	Active TSS	Rectal Smooth Muscle	rectum
26	chr2:46769000-46771400	Active TSS	Osteobl	bone
27	chr2:46769000-46771600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:46769000-46771600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:46769000-46771600	Active TSS	Right Atrium	heart
30	chr2:46769000-46771600	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:46769000-46772000	Active TSS	Brain Substantia Nigra	brain
32	chr2:46769200-46771200	Active TSS	Placenta Amnion	Placenta Amnion
33	chr2:46769200-46771200	Active TSS	A549	lung
34	chr2:46769200-46771400	Active TSS	Brain Cingulate Gyrus	brain
35	chr2:46769200-46771400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr2:46769200-46771400	Active TSS	Fetal Intestine Large	intestine
37	chr2:46769200-46771400	Active TSS	HSMM	muscle
38	chr2:46769200-46771600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:46769200-46771600	Active TSS	Left Ventricle	heart
40	chr2:46769200-46771600	Active TSS	HSMMtube	muscle
41	chr2:46769200-46771600	Active TSS	NHDF-Ad	bronchial
42	chr2:46769200-46771800	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr2:46769200-46771800	Active TSS	Aorta	Aorta
44	chr2:46769200-46772000	Active TSS	Right Ventricle	heart
45	chr2:46769200-46772600	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr2:46769400-46771400	Active TSS	Duodenum Mucosa	Duodenum
47	chr2:46769400-46771400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr2:46769400-46771400	Active TSS	NHLF	lung
49	chr2:46769400-46771600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:46769600-46771200	Active TSS	HepG2	liver

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