Variant report

Variant	rs562235201
Chromosome Location	chr7:65590445-65590446
allele	-/A
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	EP300	chr7:65589901-65591506	SK-N-SH_RA	brain:	n/a	n/a
2	FOXA1	chr7:65590264-65590732	HepG2	liver:	n/a	chr7:65590518-65590533
3	TCF12	chr7:65590141-65590992	SK-N-SH	brain:	n/a	chr7:65590520-65590529
4	GATA3	chr7:65590226-65590903	MCF-7	breast:	n/a	n/a
5	ARID3A	chr7:65590412-65591463	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:65589988-65591398	PFSK-1	brain:	n/a	n/a
7	FOXA1	chr7:65590251-65590793	HepG2	liver:	n/a	chr7:65590518-65590533
8	GATA3	chr7:65590051-65590723	MCF-7	breast:	n/a	n/a
9	GATA2	chr7:65589995-65591421	SH-SY5Y	brain:	n/a	chr7:65590897-65590910
10	GATA3	chr7:65590040-65590963	SK-N-SH	brain:	n/a	chr7:65590897-65590910
11	EP300	chr7:65589624-65591467	SK-N-SH_RA	brain:	n/a	n/a
12	TCF12	chr7:65589912-65591488	SK-N-SH	brain:	n/a	chr7:65590520-65590529
13	FOXA2	chr7:65590411-65590617	HepG2	liver:	n/a	n/a
14	GATA3	chr7:65589751-65591451	SH-SY5Y	brain:	n/a	chr7:65590897-65590910
15	GATA3	chr7:65590051-65590962	SK-N-SH	brain:	n/a	chr7:65590897-65590910
16	PBX3	chr7:65590058-65590927	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr7:65590097-65590565	SK-N-SH	brain:	n/a	n/a
18	EP300	chr7:65589055-65593016	SK-N-SH	brain:	n/a	n/a
19	FOXA1	chr7:65590392-65590645	T-47D	breast:	n/a	chr7:65590518-65590533

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65578872..65580434-chr7:65588749..65590693,2	K562	blood:

Variant related genes	Relation type
CRCP	TF binding region
ENSG00000241258	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats 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
4	nsv607396	chr7:65587537-65591310	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv511363	chr7:65587537-65597341	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv21174	chr7:65587800-65591945	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3477313	chr7:65588417-65593415	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3506715	chr7:65588967-65592965	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv511969	chr7:65589569-65592282	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv20212	chr7:65589572-65592037	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3477312	chr7:65589572-65592070	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3477310	chr7:65589615-65592053	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3506717	chr7:65589615-65592090	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv3477309	chr7:65589626-65592036	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv3477311	chr7:65589690-65591970	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv3506716	chr7:65589700-65591970	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv3477314	chr7:65589704-65591968	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3506719	chr7:65589704-65591968	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv607397	chr7:65589939-65591549	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv607398	chr7:65589939-65591719	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv607399	chr7:65589939-65591914	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv824145	chr7:65590049-65591512	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv607400	chr7:65590158-65591205	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv607401	chr7:65590158-65591719	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv607402	chr7:65590158-65591843	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	esv1843643	chr7:65590158-65591914	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
27	esv1848892	chr7:65590158-65591914	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	esv1849036	chr7:65590158-65591914	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	esv1850677	chr7:65590158-65591914	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
30	nsv607403	chr7:65590158-65591914	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
31	nsv607404	chr7:65590252-65591719	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	nsv607405	chr7:65590252-65591843	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	nsv607406	chr7:65590252-65591914	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	nsv824146	chr7:65590437-65591512	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65580600-65591000	Weak transcription	Ovary	ovary
2	chr7:65580600-65600600	Weak transcription	Aorta	Aorta
3	chr7:65580800-65606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:65581000-65595600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:65581000-65595600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:65581000-65595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:65581000-65597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:65581000-65617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:65581200-65590600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:65581200-65596000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:65581400-65595400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:65581400-65595800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:65581400-65596400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:65581600-65604800	Weak transcription	Colonic Mucosa	Colon
15	chr7:65581800-65595200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:65581800-65595600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:65581800-65595800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:65582000-65595200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:65582000-65595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:65582400-65608200	Weak transcription	Fetal Brain Male	brain
21	chr7:65582600-65595000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:65582600-65596400	Weak transcription	NH-A	brain
23	chr7:65583000-65594400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:65583000-65596000	Weak transcription	Thymus	Thymus
25	chr7:65583200-65592400	Weak transcription	Right Ventricle	heart
26	chr7:65583400-65592200	Weak transcription	Lung	lung
27	chr7:65583600-65593600	Weak transcription	Primary B cells from cord blood	blood
28	chr7:65584400-65590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:65584400-65594400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:65584400-65596000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:65584600-65592200	Weak transcription	Gastric	stomach
32	chr7:65584600-65592200	Weak transcription	Left Ventricle	heart
33	chr7:65584600-65592200	Weak transcription	Right Atrium	heart
34	chr7:65584600-65592400	Weak transcription	Fetal Intestine Small	intestine
35	chr7:65584600-65593800	Weak transcription	Fetal Intestine Large	intestine
36	chr7:65584600-65594800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:65584600-65595800	Weak transcription	Spleen	Spleen
38	chr7:65584600-65596000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:65584600-65596000	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:65584600-65596000	Weak transcription	Esophagus	oesophagus
41	chr7:65584600-65596200	Weak transcription	Brain Angular Gyrus	brain
42	chr7:65584600-65596200	Weak transcription	Brain Germinal Matrix	brain
43	chr7:65584600-65597000	Weak transcription	HMEC	breast
44	chr7:65584800-65591600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:65584800-65594600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:65584800-65594800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:65584800-65595200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:65584800-65595200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:65584800-65595600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:65584800-65595800	Weak transcription	A549	lung

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