Variant report

Variant	rs185801067
Chromosome Location	chr2:46769946-46769947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:46769400-46770044	A549	lung:	n/a	n/a
2	POLR2A	chr2:46768784-46771617	GM18951	blood:	n/a	n/a
3	JUND	chr2:46767603-46770001	SK-N-SH	brain:	n/a	chr2:46768518-46768527 chr2:46767833-46767842
4	POU2F2	chr2:46768877-46769996	GM12878	blood:	n/a	chr2:46769256-46769268 chr2:46769435-46769457 chr2:46769816-46769828
5	POLR2A	chr2:46769327-46770483	A549	lung:	n/a	n/a
6	EP300	chr2:46766289-46769972	SK-N-SH	brain:	n/a	chr2:46769660-46769673
7	POLR2A	chr2:46769311-46769956	HCT-116	colon:	n/a	n/a
8	POLR2A	chr2:46768807-46770442	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:46768934-46770081	K562	blood:	n/a	n/a
10	POLR2A	chr2:46769357-46770520	GM12878	blood:	n/a	n/a
11	CCNT2	chr2:46769390-46769977	K562	blood:	n/a	chr2:46769817-46769826
12	POLR2A	chr2:46769381-46770453	A549	lung:	n/a	n/a
13	POLR2A	chr2:46768678-46773017	GM12892	blood:	n/a	n/a
14	POLR2A	chr2:46768713-46769960	SK-N-MC	brain:	n/a	n/a
15	ZBTB7A	chr2:46769416-46769946	K562	blood:	n/a	n/a
16	HEY1	chr2:46769310-46769970	K562	blood:	n/a	chr2:46769649-46769664
17	POLR2A	chr2:46768836-46770458	NB4	blood:	n/a	n/a
18	POLR2A	chr2:46768782-46771856	GM18526	blood:	n/a	n/a
19	JUND	chr2:46768839-46770041	A549	lung:	n/a	n/a
20	POLR2A	chr2:46768807-46770033	GM10847	blood:	n/a	n/a
21	SMC3	chr2:46767616-46770132	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr2:46768734-46770083	GM15510	blood:	n/a	n/a
23	POLR2A	chr2:46768787-46769996	K562	blood:	n/a	n/a
24	POLR2A	chr2:46769746-46770022	U87	brain:	n/a	n/a
25	POLR2A	chr2:46768786-46770479	MCF-7	breast:	n/a	n/a
26	MAZ	chr2:46767582-46771842	IMR90	lung:	n/a	chr2:46770978-46770988 chr2:46771602-46771613
27	POLR2A	chr2:46768774-46770005	GM12878	blood:	n/a	n/a
28	TAF1	chr2:46769736-46769959	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:46768948-46770498	HEK293	kidney:	n/a	n/a
30	TCF12	chr2:46769273-46769946	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr2:46769346-46769952	MCF-7	breast:	n/a	n/a
32	POLR2A	chr2:46768758-46769971	K562	blood:	n/a	n/a
33	NR3C1	chr2:46769373-46770016	A549	lung:	n/a	n/a
34	POLR2A	chr2:46768786-46771815	GM19193	blood:	n/a	n/a
35	POLR2A	chr2:46768516-46769955	Raji	blood:	n/a	n/a
36	POLR2A	chr2:46768760-46773354	GM18505	blood:	n/a	n/a
37	EBF1	chr2:46768944-46770029	GM12878	blood:	n/a	n/a
38	CREB1	chr2:46768712-46769987	A549	lung:	n/a	n/a
39	TCF7L2	chr2:46768907-46769958	HCT-116	colon:	n/a	n/a
40	MXI1	chr2:46768510-46771730	IMR90	lung:	n/a	n/a
41	POLR2A	chr2:46769773-46770031	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:46768898-46769976	K562	blood:	n/a	n/a
43	POLR2A	chr2:46769788-46770105	A549	lung:	n/a	n/a
44	REST	chr2:46769228-46770010	SK-N-SH	brain:	n/a	chr2:46769603-46769623
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	POLR2A	chr2:46769343-46770243	HUVEC	blood vessel:	n/a	n/a
48	EBF1	chr2:46769716-46769955	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:46768870-46769956	SK-N-SH	brain:	n/a	n/a
50	MAZ	chr2:46768643-46769989	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46768715..46770395-chr2:47165746..47168568,2	MCF-7	breast:
2	chr2:46724349..46729821-chr2:46769212..46772070,6	MCF-7	breast:
3	chr2:46726438..46729524-chr2:46768838..46771074,3	K562	blood:
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	chr2:46768702..46771490-chr2:47403057..47405507,2	MCF-7	breast:
8	chr2:46726104..46727862-chr2:46768328..46770840,3	MCF-7	breast:
9	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:
10	chr2:46767796..46769414-chr2:46769669..46772927,3	MCF-7	breast:
11	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
12	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:
13	chr2:46661070..46664987-chr2:46768132..46770822,3	K562	blood:

No data

Variant related genes	Relation type
RHOQ	TF binding region
ATP6V1E2	TF binding region
ENSG00000143933	Chromatin interaction
ENSG00000253515	Chromatin interaction
ENSG00000250565	Chromatin interaction
ENSG00000151665	Chromatin interaction
ENSG00000187600	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000119878	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	esv15018	chr2:46769669-46770195	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 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	chr2:46769000-46770400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:46769000-46770600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:46769000-46770600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:46769000-46770600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:46769000-46770600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:46769000-46770600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:46769000-46770600	Active TSS	Brain Germinal Matrix	brain
22	chr2:46769000-46770600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr2:46769000-46770600	Active TSS	Fetal Brain Female	brain
24	chr2:46769000-46770600	Active TSS	Thymus	Thymus
25	chr2:46769000-46770600	Active TSS	NHEK	skin
26	chr2:46769000-46770800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr2:46769000-46770800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:46769000-46770800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:46769000-46770800	Active TSS	Gastric	stomach
30	chr2:46769000-46770800	Active TSS	GM12878-XiMat	blood
31	chr2:46769000-46771000	Active TSS	Fetal Intestine Small	intestine
32	chr2:46769000-46771000	Active TSS	Lung	lung
33	chr2:46769000-46771000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr2:46769000-46771000	Active TSS	Hela-S3	cervix
35	chr2:46769000-46771200	Active TSS	Psoas Muscle	Psoas
36	chr2:46769000-46771400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr2:46769000-46771400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr2:46769000-46771400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr2:46769000-46771400	Active TSS	Primary T cells from cord blood	blood
40	chr2:46769000-46771400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:46769000-46771400	Active TSS	Brain Anterior Caudate	brain
42	chr2:46769000-46771400	Active TSS	Brain Hippocampus Middle	brain
43	chr2:46769000-46771400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:46769000-46771400	Active TSS	Fetal Lung	lung
45	chr2:46769000-46771400	Active TSS	Pancreas	Pancrea
46	chr2:46769000-46771400	Active TSS	Rectal Smooth Muscle	rectum
47	chr2:46769000-46771400	Active TSS	Osteobl	bone
48	chr2:46769000-46771600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:46769000-46771600	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr2:46769000-46771600	Active TSS	Right Atrium	heart

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