Variant report

Variant	rs556536403
Chromosome Location	chr2:46770625-46770626
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

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	POLR2A	chr2:46768784-46771617	GM18951	blood:	n/a	n/a
3	ZBTB7A	chr2:46770227-46771455	ECC-1	luminal epithelium:	n/a	n/a
4	EBF1	chr2:46770440-46770780	GM12878	blood:	n/a	n/a
5	REST	chr2:46770461-46771647	H1-neurons	neurons:	n/a	n/a
6	MTA3	chr2:46770460-46771376	GM12878	blood:	n/a	n/a
7	ZBTB7A	chr2:46770245-46771406	ECC-1	luminal epithelium:	n/a	n/a
8	ZNF143	chr2:46770543-46771058	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:46768678-46773017	GM12892	blood:	n/a	n/a
10	MXI1	chr2:46770537-46771776	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:46768782-46771856	GM18526	blood:	n/a	n/a
12	POLR2A	chr2:46770477-46777171	GM12878	blood:	n/a	n/a
13	RFX5	chr2:46770190-46772854	SK-N-SH	brain:	n/a	chr2:46770339-46770347
14	MAX	chr2:46770616-46770857	A549	lung:	n/a	n/a
15	POLR2A	chr2:46770565-46771912	GM12878	blood:	n/a	n/a
16	CTBP2	chr2:46770225-46771435	H1-hESC	embryonic stem cell:	n/a	n/a
17	STAT5A	chr2:46770471-46771774	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:46770065-46771465	GM12878	blood:	n/a	n/a
19	RFX5	chr2:46770550-46771798	IMR90	lung:	n/a	n/a
20	POLR2A	chr2:46770053-46772353	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:46770217-46773424	GM12878	blood:	n/a	n/a
22	CREB1	chr2:46770515-46771449	A549	lung:	n/a	n/a
23	MAZ	chr2:46770544-46771983	GM12878	blood:	n/a	chr2:46770978-46770988 chr2:46771602-46771613
24	MAZ	chr2:46767582-46771842	IMR90	lung:	n/a	chr2:46770978-46770988 chr2:46771602-46771613
25	BACH1	chr2:46770579-46771348	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr2:46770616-46770766	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:46770601-46771384	K562	blood:	n/a	n/a
28	ZBTB7A	chr2:46769950-46771304	K562	blood:	n/a	n/a
29	CHD1	chr2:46770580-46771632	GM12878	blood:	n/a	n/a
30	SPI1	chr2:46770502-46770741	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:46770530-46771585	GM12878	blood:	n/a	n/a
32	ELF1	chr2:46770381-46770651	K562	blood:	n/a	n/a
33	POLR2A	chr2:46768786-46771815	GM19193	blood:	n/a	n/a
34	POLR2A	chr2:46770159-46771661	Raji	blood:	n/a	n/a
35	POLR2A	chr2:46768760-46773354	GM18505	blood:	n/a	n/a
36	ZBTB7A	chr2:46770476-46770690	HepG2	liver:	n/a	n/a
37	CHD2	chr2:46770568-46771598	GM12878	blood:	n/a	n/a
38	MXI1	chr2:46768510-46771730	IMR90	lung:	n/a	n/a
39	MAX	chr2:46770158-46771640	A549	lung:	n/a	chr2:46770978-46770988 chr2:46771602-46771613
40	TCF12	chr2:46770402-46771648	A549	lung:	n/a	n/a
41	POLR2A	chr2:46770557-46771712	GM15510	blood:	n/a	n/a
42	MAZ	chr2:46770265-46771528	K562	blood:	n/a	chr2:46770978-46770988
43	POLR2A	chr2:46770446-46771713	H1-neurons	neurons:	n/a	n/a
44	RUNX3	chr2:46770462-46771651	GM12878	blood:	n/a	n/a
45	MXI1	chr2:46766247-46772861	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr2:46768749-46771480	GM12892	blood:	n/a	n/a
47	UBTF	chr2:46770263-46771079	K562	blood:	n/a	n/a
48	SPI1	chr2:46770498-46770831	HL-60	blood:	n/a	n/a
49	POLR2A	chr2:46770416-46771095	HL-60	blood:	n/a	n/a
50	MAX	chr2:46770158-46771470	A549	lung:	n/a	chr2:46770978-46770988

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46724349..46729821-chr2:46769212..46772070,6	MCF-7	breast:
2	chr2:46726438..46729524-chr2:46768838..46771074,3	K562	blood:
3	chr2:46770485..46772962-chr2:46842113..46844264,3	MCF-7	breast:
4	chr2:46769235..46772209-chr2:46814826..46816628,2	K562	blood:
5	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:
6	chr2:46704470..46707025-chr2:46769256..46770963,2	MCF-7	breast:
7	chr2:46770414..46772957-chr2:46801807..46804486,2	MCF-7	breast:
8	chr2:46768702..46771490-chr2:47403057..47405507,2	MCF-7	breast:
9	chr2:46726104..46727862-chr2:46768328..46770840,3	MCF-7	breast:
10	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:
11	chr2:46767796..46769414-chr2:46769669..46772927,3	MCF-7	breast:
12	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
13	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:
14	chr2:46661070..46664987-chr2:46768132..46770822,3	K562	blood:

No data

Variant related genes	Relation type
ATP6V1E2	TF binding region
RHOQ	TF binding region
ENSG00000250565	Chromatin interaction
ENSG00000253515	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000151665	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000119878	Chromatin interaction
ENSG00000187600	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	chr2:46768800-46771000	Active TSS	Small Intestine	intestine
7	chr2:46768800-46771200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:46768800-46771200	Active TSS	Ovary	ovary
9	chr2:46768800-46771400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:46768800-46771400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:46768800-46771400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:46768800-46771400	Active TSS	Brain Angular Gyrus	brain
13	chr2:46768800-46771400	Active TSS	Colon Smooth Muscle	Colon
14	chr2:46768800-46771400	Active TSS	Fetal Kidney	kidney
15	chr2:46769000-46770800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr2:46769000-46770800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:46769000-46770800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:46769000-46770800	Active TSS	Gastric	stomach
19	chr2:46769000-46770800	Active TSS	GM12878-XiMat	blood
20	chr2:46769000-46771000	Active TSS	Fetal Intestine Small	intestine
21	chr2:46769000-46771000	Active TSS	Lung	lung
22	chr2:46769000-46771000	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr2:46769000-46771000	Active TSS	Hela-S3	cervix
24	chr2:46769000-46771200	Active TSS	Psoas Muscle	Psoas
25	chr2:46769000-46771400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr2:46769000-46771400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr2:46769000-46771400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:46769000-46771400	Active TSS	Primary T cells from cord blood	blood
29	chr2:46769000-46771400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:46769000-46771400	Active TSS	Brain Anterior Caudate	brain
31	chr2:46769000-46771400	Active TSS	Brain Hippocampus Middle	brain
32	chr2:46769000-46771400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:46769000-46771400	Active TSS	Fetal Lung	lung
34	chr2:46769000-46771400	Active TSS	Pancreas	Pancrea
35	chr2:46769000-46771400	Active TSS	Rectal Smooth Muscle	rectum
36	chr2:46769000-46771400	Active TSS	Osteobl	bone
37	chr2:46769000-46771600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:46769000-46771600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:46769000-46771600	Active TSS	Right Atrium	heart
40	chr2:46769000-46771600	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr2:46769000-46772000	Active TSS	Brain Substantia Nigra	brain
42	chr2:46769200-46770800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:46769200-46771000	Active TSS	Primary B cells from peripheral blood	blood
44	chr2:46769200-46771000	Active TSS	Spleen	Spleen
45	chr2:46769200-46771200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr2:46769200-46771200	Active TSS	A549	lung
47	chr2:46769200-46771400	Active TSS	Brain Cingulate Gyrus	brain
48	chr2:46769200-46771400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr2:46769200-46771400	Active TSS	Fetal Intestine Large	intestine
50	chr2:46769200-46771400	Active TSS	HSMM	muscle

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