Variant report

Variant	rs571541693
Chromosome Location	chr2:37916104-37916105
allele	C/T
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	SRF	chr2:37916041-37916793	ECC-1	luminal epithelium:	n/a	chr2:37916409-37916418 chr2:37916404-37916422 chr2:37916405-37916423 chr2:37916407-37916420 chr2:37916405-37916422
2	MAX	chr2:37916053-37916673	ECC-1	luminal epithelium:	n/a	n/a
3	TEAD4	chr2:37915945-37916930	SK-N-SH	brain:	n/a	chr2:37916325-37916334 chr2:37916557-37916566
4	STAT3	chr2:37916103-37916488	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF12	chr2:37915749-37917466	SK-N-SH	brain:	n/a	n/a
6	TAF1	chr2:37915944-37916587	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr2:37916001-37916721	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr2:37916021-37916673	SK-N-SH	brain:	n/a	n/a
9	MAX	chr2:37915831-37916740	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:37915752-37917251	U87	brain:	n/a	n/a
11	MAX	chr2:37915763-37916729	SK-N-SH	brain:	n/a	n/a
12	YY1	chr2:37916077-37916549	ECC-1	luminal epithelium:	n/a	n/a
13	SP1	chr2:37916026-37916792	A549	lung:	n/a	n/a
14	JUND	chr2:37915955-37916718	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr2:37916042-37916799	ECC-1	luminal epithelium:	n/a	n/a
16	NFIC	chr2:37916032-37916761	ECC-1	luminal epithelium:	n/a	n/a
17	YY1	chr2:37916102-37916541	SK-N-SH_RA	brain:	n/a	n/a
18	MAX	chr2:37915976-37916836	A549	lung:	n/a	n/a
19	STAT3	chr2:37915848-37916611	MCF10A-Er-Src	breast:	n/a	n/a
20	TEAD4	chr2:37916037-37916712	A549	lung:	n/a	chr2:37916325-37916334 chr2:37916557-37916566
21	POLR2A	chr2:37915883-37916990	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL2	chr2:37915862-37916936	SK-N-SH	brain:	n/a	n/a
23	EP300	chr2:37915899-37917201	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr2:37915959-37916841	ECC-1	luminal epithelium:	n/a	n/a
25	PBX3	chr2:37916039-37916724	SK-N-SH	brain:	n/a	n/a
26	SRF	chr2:37916097-37916704	ECC-1	luminal epithelium:	n/a	chr2:37916409-37916418 chr2:37916404-37916422 chr2:37916405-37916423 chr2:37916407-37916420 chr2:37916405-37916422
27	EP300	chr2:37915934-37917235	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr2:37916052-37916710	U87	brain:	n/a	n/a
29	FOXM1	chr2:37915834-37917001	ECC-1	luminal epithelium:	n/a	n/a
30	TEAD4	chr2:37916034-37916854	ECC-1	luminal epithelium:	n/a	chr2:37916325-37916334 chr2:37916557-37916566
31	GATA3	chr2:37915785-37917388	SK-N-SH	brain:	n/a	n/a
32	JUND	chr2:37915826-37918012	SK-N-SH	brain:	n/a	chr2:37917143-37917153
33	MAX	chr2:37915949-37916792	ECC-1	luminal epithelium:	n/a	n/a
34	TEAD4	chr2:37915876-37917355	ECC-1	luminal epithelium:	n/a	chr2:37916325-37916334 chr2:37916557-37916566
35	POLR2A	chr2:37915671-37917257	U87	brain:	n/a	n/a
36	FOSL2	chr2:37916016-37916969	A549	lung:	n/a	n/a

Variant related genes	Relation type
CDC42EP3	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong 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	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv535647	chr2:37874563-38014428	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv2763655	chr2:37905976-37933740	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1824236	chr2:37907573-37991077	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv2752904	chr2:37909108-37998930	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2752847	chr2:37909108-38002857	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2754553	chr2:37909108-38004448	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv2756917	chr2:37909387-38005308	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv2752410	chr2:37910623-37998864	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv2753609	chr2:37910623-37998930	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2754978	chr2:37910623-37998930	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv2753310	chr2:37910623-38005048	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv2752850	chr2:37911571-37998864	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv2753311	chr2:37911571-37998864	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv2754354	chr2:37911571-37998864	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	esv2755591	chr2:37911571-38004431	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	esv2754070	chr2:37911623-37998864	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv2756570	chr2:37911623-37998864	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv2752968	chr2:37914388-37998864	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	esv2755763	chr2:37914930-37989089	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
26	esv2753940	chr2:37914930-37998864	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	esv2754336	chr2:37914930-37998864	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
28	esv2754353	chr2:37914930-37998864	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	esv2756391	chr2:37914930-37998864	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	esv2753638	chr2:37914930-38004321	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	esv2755926	chr2:37914930-38004321	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37907000-37921000	Weak transcription	Stomach Mucosa	stomach
2	chr2:37910600-37916200	Weak transcription	Left Ventricle	heart
3	chr2:37914000-37917000	Enhancers	Osteobl	bone
4	chr2:37914000-37917200	Enhancers	NHDF-Ad	bronchial
5	chr2:37914200-37917800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:37915200-37917800	Enhancers	HSMM	muscle
7	chr2:37915200-37918000	Enhancers	Fetal Heart	heart
8	chr2:37915200-37918000	Enhancers	HSMMtube	muscle
9	chr2:37915400-37916400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:37915400-37917200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:37915400-37917400	Enhancers	Placenta	Placenta
12	chr2:37915400-37917400	Enhancers	Fetal Stomach	stomach
13	chr2:37915400-37917800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:37915400-37917800	Enhancers	NHLF	lung
15	chr2:37915600-37916400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:37915600-37916800	Enhancers	HUVEC	blood vessel
17	chr2:37915600-37917200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:37915600-37917200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:37915600-37917400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:37915600-37917600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:37915600-37917600	Enhancers	HMEC	breast
22	chr2:37915600-37917800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:37915600-37917800	Enhancers	Rectal Smooth Muscle	rectum
24	chr2:37915800-37916200	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:37915800-37916600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:37915800-37916800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:37915800-37916800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:37915800-37917000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:37915800-37917000	Enhancers	Colon Smooth Muscle	Colon
30	chr2:37915800-37917200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:37915800-37917400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:37915800-37917600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:37916000-37916200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:37916000-37916200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:37916000-37916200	Flanking Active TSS	NHEK	skin
36	chr2:37916000-37916400	Flanking Active TSS	NH-A	brain
37	chr2:37916000-37916600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr2:37916000-37916600	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr2:37916000-37916600	Enhancers	Fetal Lung	lung
40	chr2:37916000-37916600	Flanking Active TSS	A549	lung
41	chr2:37916000-37916800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:37916000-37916800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:37916000-37917200	Enhancers	Psoas Muscle	Psoas
44	chr2:37916000-37917200	Enhancers	Hela-S3	cervix
45	chr2:37916000-37917600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:37916000-37917800	Enhancers	Fetal Muscle Leg	muscle
47	chr2:37916000-37917800	Enhancers	Ovary	ovary

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