Variant report

Variant	rs59367765
Chromosome Location	chr2:39667158-39667159
allele	G/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	FOS	chr2:39666647-39667290	MCF10A-Er-Src	breast:	n/a	chr2:39667025-39667036
2	RCOR1	chr2:39666655-39667187	K562	blood:	n/a	n/a
3	GATA1	chr2:39666642-39667167	PBDE	blood:	n/a	n/a
4	JUN	chr2:39666607-39667192	K562	blood:	n/a	n/a
5	CUX1	chr2:39666787-39667252	K562	blood:	n/a	chr2:39667078-39667092
6	STAT3	chr2:39666640-39667473	MCF10A-Er-Src	breast:	n/a	chr2:39667037-39667048
7	EP300	chr2:39666825-39667164	SK-N-SH_RA	brain:	n/a	n/a
8	MEF2A	chr2:39666703-39667166	K562	blood:	n/a	n/a
9	MYC	chr2:39666740-39667160	MCF10A-Er-Src	breast:	n/a	n/a
10	MAFF	chr2:39666741-39667168	K562	blood:	n/a	n/a
11	JUN	chr2:39666849-39667283	HUVEC	blood vessel:	n/a	n/a
12	EP300	chr2:39666623-39667299	K562	blood:	n/a	chr2:39666669-39666683
13	ARID3A	chr2:39666780-39667205	K562	blood:	n/a	n/a
14	JUND	chr2:39666667-39667275	K562	blood:	n/a	chr2:39667025-39667036
15	KAP1	chr2:39666580-39667373	HEK293	kidney:	n/a	n/a
16	FOS	chr2:39666581-39667325	MCF10A-Er-Src	breast:	n/a	chr2:39667025-39667036
17	POLR2A	chr2:39666714-39667178	MCF10A-Er-Src	breast:	n/a	n/a
18	KAP1	chr2:39666747-39667335	U2OS	brain:	n/a	n/a
19	JUN	chr2:39665851-39667318	K562	blood:	n/a	n/a
20	STAT3	chr2:39666957-39667159	Hela-S3	cervix:	n/a	chr2:39667037-39667048
21	FOS	chr2:39666660-39667331	MCF10A-Er-Src	breast:	n/a	chr2:39667025-39667036
22	JUND	chr2:39666855-39667203	HepG2	liver:	n/a	chr2:39667025-39667036
23	TEAD4	chr2:39666751-39667199	K562	blood:	n/a	n/a
24	STAT3	chr2:39666563-39667384	MCF10A-Er-Src	breast:	n/a	chr2:39667037-39667048
25	PML	chr2:39666531-39667207	K562	blood:	n/a	n/a
26	JUN	chr2:39666709-39667230	K562	blood:	n/a	n/a
27	TAL1	chr2:39666732-39667206	K562	blood:	n/a	n/a
28	FOSL2	chr2:39666838-39667290	SK-N-SH	brain:	n/a	n/a
29	FOS	chr2:39666839-39667221	MCF10A-Er-Src	breast:	n/a	chr2:39667025-39667036
30	GATA2	chr2:39666735-39667185	K562	blood:	n/a	n/a
31	TEAD4	chr2:39666473-39667340	K562	blood:	n/a	n/a
32	GATA3	chr2:39666653-39667460	SK-N-SH	brain:	n/a	n/a
33	STAT5A	chr2:39666625-39667235	K562	blood:	n/a	n/a
34	BHLHE40	chr2:39666675-39667159	K562	blood:	n/a	n/a
35	FOSL2	chr2:39666715-39667338	SK-N-SH	brain:	n/a	n/a
36	STAT3	chr2:39666554-39667441	MCF10A-Er-Src	breast:	n/a	chr2:39667037-39667048
37	POLR2A	chr2:39666703-39667342	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr2:39666820-39667271	HUVEC	blood vessel:	n/a	chr2:39667025-39667036
39	ATF1	chr2:39666754-39667216	K562	blood:	n/a	n/a
40	JUN	chr2:39666928-39667210	HepG2	liver:	n/a	n/a
41	STAT5A	chr2:39666620-39667196	K562	blood:	n/a	n/a
42	TBL1XR1	chr2:39666595-39667177	K562	blood:	n/a	n/a
43	JUND	chr2:39666411-39667577	SK-N-SH	brain:	n/a	chr2:39667025-39667036
44	MYC	chr2:39666696-39667184	K562	blood:	n/a	n/a
45	JUN	chr2:39666714-39667536	K562	blood:	n/a	n/a
46	POLR2A	chr2:39666856-39667240	SK-N-SH	brain:	n/a	n/a
47	STAT3	chr2:39666689-39667241	MCF10A-Er-Src	breast:	n/a	chr2:39667037-39667048
48	MYC	chr2:39666603-39667291	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:39666476..39669114-chr2:39673200..39674751,2	K562	blood:
2	chr2:39608115..39611189-chr2:39665899..39668671,3	K562	blood:
3	chr2:39664730..39667183-chr2:39678037..39681016,2	MCF-7	breast:

Variant related genes	Relation type
MAP4K3	TF binding region
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17023746	1.00[AMR][1000 genomes]
rs58423878	0.84[AFR][1000 genomes]
rs60080259	1.00[AMR][1000 genomes]
rs61307566	1.00[AMR][1000 genomes]
rs61570293	1.00[AMR][1000 genomes]
rs72925265	1.00[AMR][1000 genomes]
rs72925273	1.00[AMR][1000 genomes]
rs72925279	1.00[AMR][1000 genomes]
rs72925287	1.00[AMR][1000 genomes]
rs72927106	1.00[AMR][1000 genomes]
rs72927112	1.00[AMR][1000 genomes]
rs72930080	1.00[AMR][1000 genomes]
rs72930083	1.00[AMR][1000 genomes]
rs72930099	1.00[AMR][1000 genomes]
rs72931162	1.00[AMR][1000 genomes]
rs72931169	1.00[AMR][1000 genomes]
rs72931170	1.00[AMR][1000 genomes]
rs72932006	1.00[AMR][1000 genomes]
rs72932012	1.00[AMR][1000 genomes]
rs72932020	1.00[AMR][1000 genomes]
rs7578373	1.00[AMR][1000 genomes]
rs7603259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv2695	chr2:39643221-39688015	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39665200-39696000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:39665400-39667200	Enhancers	Stomach Mucosa	stomach
3	chr2:39665400-39667800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:39665400-39667800	Weak transcription	Esophagus	oesophagus
5	chr2:39665600-39667200	Enhancers	Fetal Heart	heart
6	chr2:39665600-39667200	Enhancers	Fetal Stomach	stomach
7	chr2:39665600-39667400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:39665600-39667400	Enhancers	Hela-S3	cervix
9	chr2:39665600-39667400	Enhancers	HSMM	muscle
10	chr2:39665600-39667600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:39665600-39667600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:39665600-39667600	Enhancers	NHDF-Ad	bronchial
13	chr2:39665600-39670000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:39665600-39681600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:39665600-39684200	Weak transcription	Lung	lung
16	chr2:39665600-39685600	Weak transcription	Left Ventricle	heart
17	chr2:39665600-39694600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:39665600-39694800	Weak transcription	Pancreas	Pancrea
19	chr2:39665800-39667200	Enhancers	Fetal Lung	lung
20	chr2:39665800-39667400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:39665800-39667400	Enhancers	Brain Anterior Caudate	brain
22	chr2:39665800-39667400	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:39665800-39667400	Enhancers	A549	lung
24	chr2:39665800-39667600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:39665800-39668000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:39665800-39668200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:39665800-39668200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:39665800-39668200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:39666000-39667400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:39666000-39667600	Enhancers	HMEC	breast
31	chr2:39666000-39681200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:39666200-39667200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:39666200-39667200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:39666200-39667200	Enhancers	NHEK	skin
35	chr2:39666200-39667400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:39666200-39667400	Enhancers	Colon Smooth Muscle	Colon
37	chr2:39666200-39667600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:39666200-39667600	Enhancers	HUVEC	blood vessel
39	chr2:39666200-39681400	Weak transcription	Fetal Intestine Large	intestine
40	chr2:39666200-39696600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:39666400-39667200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:39666400-39667400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:39666400-39667400	Flanking Active TSS	K562	blood
44	chr2:39666400-39668000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:39666400-39670600	Weak transcription	Liver	Liver
46	chr2:39666600-39667200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:39666600-39667200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:39666600-39667200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:39666600-39667400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr2:39666600-39667400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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