Variant report

Variant	rs370929260
Chromosome Location	chr2:10584816-10584817
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	ATF2	chr2:10584634-10585027	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:10583356-10586233	GM12878	blood:	n/a	n/a
3	MXI1	chr2:10584661-10584977	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:10584593-10584966	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:10583084-10586162	Hela-S3	cervix:	n/a	n/a
6	HEY1	chr2:10584112-10585039	K562	blood:	n/a	n/a
7	PAX5	chr2:10584508-10584957	GM12878	blood:	n/a	n/a
8	EBF1	chr2:10584583-10584957	GM12878	blood:	n/a	n/a
9	JUN	chr2:10584712-10584877	K562	blood:	n/a	chr2:10584794-10584804 chr2:10584794-10584803 chr2:10584794-10584804 chr2:10584794-10584804 chr2:10584794-10584804
10	BATF	chr2:10584630-10584994	GM12878	blood:	n/a	n/a
11	RUNX3	chr2:10584432-10585078	GM12878	blood:	n/a	chr2:10584812-10584827
12	FOS	chr2:10584792-10584817	MCF10A-Er-Src	breast:	n/a	chr2:10584794-10584804 chr2:10584794-10584803 chr2:10584794-10584804 chr2:10584794-10584804 chr2:10584794-10584804
13	RFX5	chr2:10584657-10584830	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:10584395-10584896	Hela-S3	cervix:	n/a	n/a
15	ATF2	chr2:10584524-10585039	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:10584307-10585680	IMR90	lung:	n/a	n/a
17	BATF	chr2:10584572-10585021	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:10584473-10584929	K562	blood:	n/a	n/a
19	POLR2A	chr2:10584282-10585163	Hela-S3	cervix:	n/a	n/a
20	ZNF143	chr2:10584551-10584918	GM12878	blood:	n/a	n/a
21	FOS	chr2:10584754-10584953	MCF10A-Er-Src	breast:	n/a	chr2:10584794-10584804 chr2:10584794-10584803 chr2:10584794-10584804 chr2:10584794-10584804 chr2:10584794-10584804
22	TBL1XR1	chr2:10584664-10585048	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:10584410-10584961	K562	blood:	n/a	n/a
24	MTA3	chr2:10584531-10585089	GM12878	blood:	n/a	n/a
25	CHD2	chr2:10584661-10584999	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:10584338-10585000	GM12892	blood:	n/a	n/a
27	POLR2A	chr2:10584568-10585084	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr2:10584241-10584954	HepG2	liver:	n/a	n/a
29	RUNX3	chr2:10584505-10585081	GM12878	blood:	n/a	chr2:10584812-10584827
30	WRNIP1	chr2:10584553-10585026	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:10583278-10585641	K562	blood:	n/a	n/a
32	ZEB1	chr2:10584624-10584957	GM12878	blood:	n/a	n/a
33	BHLHE40	chr2:10584638-10584928	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:10584086-10585181	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr2:10583281-10584983	A549	lung:	n/a	n/a
36	POLR2A	chr2:10578415-10586213	GM12878	blood:	n/a	n/a
37	IRF4	chr2:10584530-10585074	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:10584683-10584859	GM12878	blood:	n/a	n/a
39	EP300	chr2:10584637-10584940	GM12878	blood:	n/a	n/a
40	NFIC	chr2:10584401-10585095	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10583289..10586276-chr2:10586900..10589856,4	MCF-7	breast:
2	chr2:10259839..10264771-chr2:10582056..10590038,19	K562	blood:
3	chr2:10584788..10589777-chr2:10826863..10830293,6	K562	blood:
4	chr2:10274887..10276601-chr2:10582184..10584969,2	K562	blood:
5	chr2:10583602..10586485-chr2:10613524..10616092,2	K562	blood:
6	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:
7	chr2:10266406..10268179-chr2:10582965..10585269,2	K562	blood:
8	chr2:10574850..10580139-chr2:10582463..10585343,4	MCF-7	breast:
9	chr2:10580034..10581693-chr2:10583711..10585512,2	MCF-7	breast:
10	chr2:10359472..10362167-chr2:10583974..10586621,2	K562	blood:
11	chr2:10257984..10265070-chr2:10582045..10589780,17	K562	blood:
12	chr2:10177980..10179820-chr2:10584164..10586131,2	K562	blood:

Variant related genes	Relation type
ENSG00000257135	TF binding region
ENSG00000115758	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000115761	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv1840383	chr2:10569021-10588903	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv873647	chr2:10576424-10597858	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv873648	chr2:10584639-10599493	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 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	chr2:10573000-10587400	Weak transcription	Right Atrium	heart
2	chr2:10573800-10586800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:10577200-10587800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:10578200-10585200	Strong transcription	Brain Germinal Matrix	brain
5	chr2:10578400-10585000	Strong transcription	Thymus	Thymus
6	chr2:10578400-10585400	Strong transcription	Fetal Intestine Small	intestine
7	chr2:10578600-10585000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:10578600-10585200	Strong transcription	HSMMtube	muscle
9	chr2:10578600-10585400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr2:10578600-10585600	Strong transcription	A549	lung
11	chr2:10578800-10585000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:10578800-10585000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:10578800-10585000	Strong transcription	Gastric	stomach
14	chr2:10578800-10585200	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr2:10578800-10585200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr2:10578800-10585200	Strong transcription	Fetal Stomach	stomach
17	chr2:10578800-10585200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:10578800-10585400	Strong transcription	Osteobl	bone
19	chr2:10578800-10585600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:10578800-10585600	Strong transcription	Primary T cells from cord blood	blood
21	chr2:10579000-10585000	Strong transcription	Esophagus	oesophagus
22	chr2:10579000-10585000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr2:10579000-10585000	Strong transcription	Spleen	Spleen
24	chr2:10579000-10585000	Strong transcription	NHEK	skin
25	chr2:10579000-10585200	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr2:10579000-10585200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:10579000-10585200	Strong transcription	HepG2	liver
28	chr2:10579000-10585400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:10579000-10585400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:10579000-10585400	Strong transcription	Fetal Intestine Large	intestine
31	chr2:10579000-10585600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:10579000-10585600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:10579200-10585000	Strong transcription	Ovary	ovary
34	chr2:10579200-10585000	Strong transcription	NH-A	brain
35	chr2:10579200-10585200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:10579200-10585200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:10579200-10585200	Strong transcription	NHDF-Ad	bronchial
38	chr2:10579200-10585400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:10579200-10585600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:10579200-10585600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:10579400-10585000	Strong transcription	Brain Angular Gyrus	brain
42	chr2:10579400-10585200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:10579400-10585200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:10579400-10585200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:10579400-10585200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:10579400-10585200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:10579400-10585200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:10579400-10585200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:10579400-10585600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:10579600-10585000	Strong transcription	Primary T cells fromperipheralblood	blood

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