Variant report

Variant	rs73926612
Chromosome Location	chr2:37916989-37916990
allele	A/C
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	MAX	chr2:37916971-37917420	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr2:37915749-37917466	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr2:37916813-37917450	ECC-1	luminal epithelium:	n/a	n/a
4	MYC	chr2:37916888-37917247	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr2:37916978-37917195	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:37915752-37917251	U87	brain:	n/a	n/a
7	MAX	chr2:37916944-37917361	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:37915883-37916990	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr2:37915899-37917201	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr2:37916119-37917376	ECC-1	luminal epithelium:	n/a	n/a
11	EP300	chr2:37915934-37917235	ECC-1	luminal epithelium:	n/a	n/a
12	FOXA1	chr2:37916388-37917019	T-47D	breast:	n/a	n/a
13	FOXM1	chr2:37915834-37917001	ECC-1	luminal epithelium:	n/a	n/a
14	GATA3	chr2:37915785-37917388	SK-N-SH	brain:	n/a	n/a
15	JUND	chr2:37915826-37918012	SK-N-SH	brain:	n/a	chr2:37917143-37917153
16	TEAD4	chr2:37915876-37917355	ECC-1	luminal epithelium:	n/a	chr2:37916325-37916334 chr2:37916557-37916566
17	POLR2A	chr2:37915671-37917257	U87	brain:	n/a	n/a

Variant related genes	Relation type
CDC42EP3	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs55978137	0.89[AFR][1000 genomes]

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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37907000-37921000	Weak transcription	Stomach Mucosa	stomach
2	chr2:37914000-37917000	Enhancers	Osteobl	bone
3	chr2:37914000-37917200	Enhancers	NHDF-Ad	bronchial
4	chr2:37914200-37917800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:37915200-37917800	Enhancers	HSMM	muscle
6	chr2:37915200-37918000	Enhancers	Fetal Heart	heart
7	chr2:37915200-37918000	Enhancers	HSMMtube	muscle
8	chr2:37915400-37917200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:37915400-37917400	Enhancers	Placenta	Placenta
10	chr2:37915400-37917400	Enhancers	Fetal Stomach	stomach
11	chr2:37915400-37917800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:37915400-37917800	Enhancers	NHLF	lung
13	chr2:37915600-37917200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:37915600-37917200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:37915600-37917400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:37915600-37917600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:37915600-37917600	Enhancers	HMEC	breast
18	chr2:37915600-37917800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:37915600-37917800	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:37915800-37917000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:37915800-37917000	Enhancers	Colon Smooth Muscle	Colon
22	chr2:37915800-37917200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:37915800-37917400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:37915800-37917600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:37916000-37917200	Enhancers	Psoas Muscle	Psoas
26	chr2:37916000-37917200	Enhancers	Hela-S3	cervix
27	chr2:37916000-37917600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:37916000-37917800	Enhancers	Fetal Muscle Leg	muscle
29	chr2:37916000-37917800	Enhancers	Ovary	ovary
30	chr2:37916200-37917000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:37916200-37917200	Enhancers	Left Ventricle	heart
32	chr2:37916200-37917400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:37916200-37917600	Enhancers	Brain Germinal Matrix	brain
34	chr2:37916200-37917800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:37916400-37917200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:37916400-37917200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:37916400-37917200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:37916400-37917200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:37916400-37917200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:37916400-37917200	Enhancers	Aorta	Aorta
41	chr2:37916400-37917200	Enhancers	Esophagus	oesophagus
42	chr2:37916400-37917200	Enhancers	Fetal Muscle Trunk	muscle
43	chr2:37916400-37917400	Enhancers	NH-A	brain
44	chr2:37916600-37917200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:37916600-37917400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:37916600-37917400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:37916600-37917400	Enhancers	NHEK	skin
48	chr2:37916600-37917600	Enhancers	A549	lung
49	chr2:37916600-37922200	Weak transcription	Fetal Lung	lung
50	chr2:37916600-37926000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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