Variant report

Variant	rs7249229
Chromosome Location	chr19:21585307-21585308
allele	A/G
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	STAT3	chr19:21585200-21585361	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21579150..21580726-chr19:21585084..21587356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269237	TF binding region
ZNF493	TF binding region
ENSG00000196268	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10410362	1.00[AMR][1000 genomes]
rs10412054	1.00[AMR][1000 genomes]
rs11878543	1.00[AMR][1000 genomes]
rs11879647	1.00[AMR][1000 genomes]
rs11880701	1.00[AMR][1000 genomes]
rs11880751	1.00[AMR][1000 genomes]
rs11881331	1.00[AMR][1000 genomes]
rs11881379	1.00[AMR][1000 genomes]
rs11882304	1.00[AMR][1000 genomes]
rs1762561	1.00[AMR][1000 genomes]
rs1762562	1.00[AMR][1000 genomes]
rs1762569	1.00[AMR][1000 genomes]
rs1781849	1.00[AMR][1000 genomes]
rs1781854	1.00[AMR][1000 genomes]
rs1781859	1.00[AMR][1000 genomes]
rs1846713	1.00[AMR][1000 genomes]
rs1909772	1.00[AMR][1000 genomes]
rs1963057	1.00[AMR][1000 genomes]
rs2011379	1.00[AMR][1000 genomes]
rs2088759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2173726	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2359147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2359148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2434998	1.00[AMR][1000 genomes]
rs2454922	1.00[AMR][1000 genomes]
rs2537693	1.00[AMR][1000 genomes]
rs2537695	1.00[AMR][1000 genomes]
rs2562412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2562434	1.00[AMR][1000 genomes]
rs2562460	0.84[EUR][1000 genomes]
rs2650772	0.84[EUR][1000 genomes]
rs2650811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2650838	1.00[AMR][1000 genomes]
rs2650839	1.00[AMR][1000 genomes]
rs2801860	1.00[AMR][1000 genomes]
rs28857324	1.00[AMR][1000 genomes]
rs2914643	1.00[AMR][1000 genomes]
rs2914644	1.00[AMR][1000 genomes]
rs2928219	1.00[AMR][1000 genomes]
rs2928220	1.00[AMR][1000 genomes]
rs2968029	1.00[AMR][1000 genomes]
rs2968031	1.00[AMR][1000 genomes]
rs2968071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57626552	1.00[AMR][1000 genomes]
rs57847044	1.00[AMR][1000 genomes]
rs58638125	1.00[AMR][1000 genomes]
rs59087535	1.00[AMR][1000 genomes]
rs59268487	1.00[AMR][1000 genomes]
rs61334868	1.00[AMR][1000 genomes]
rs73539807	1.00[AMR][1000 genomes]
rs73543709	1.00[AMR][1000 genomes]
rs73545768	1.00[AMR][1000 genomes]
rs73545790	1.00[AMR][1000 genomes]
rs73547713	1.00[AMR][1000 genomes]
rs73547779	1.00[AMR][1000 genomes]
rs73549716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1793996	chr19:21544242-21609607	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1801985	chr19:21544242-21609607	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1844586	chr19:21544242-21609607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1834499	chr19:21557835-21609607	Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1834993	chr19:21557835-21609607	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv911421	chr19:21579718-21613397	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
15	nsv978789	chr19:21579953-21589286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21580600-21592600	Weak transcription	Placenta	Placenta
2	chr19:21580600-21593200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:21580600-21593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:21580600-21600200	Weak transcription	Gastric	stomach
5	chr19:21580600-21602400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21580800-21595400	Weak transcription	HUVEC	blood vessel
7	chr19:21581000-21591800	Weak transcription	Pancreas	Pancrea
8	chr19:21581000-21596200	Weak transcription	Aorta	Aorta
9	chr19:21581000-21598800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:21581200-21590200	Weak transcription	NHLF	lung
11	chr19:21581400-21585400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:21581400-21585400	Weak transcription	Colonic Mucosa	Colon
13	chr19:21581400-21586200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr19:21581400-21588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr19:21581400-21588600	Weak transcription	Fetal Stomach	stomach
16	chr19:21581400-21589000	Weak transcription	K562	blood
17	chr19:21581400-21592000	Weak transcription	NH-A	brain
18	chr19:21581400-21594600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:21581400-21596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr19:21581400-21598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:21581600-21585600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr19:21581600-21585600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr19:21581600-21585600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:21581600-21588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr19:21581600-21589000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:21581600-21590000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:21581600-21591800	Weak transcription	Right Ventricle	heart
28	chr19:21581600-21592200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:21581600-21592400	Weak transcription	Brain Angular Gyrus	brain
30	chr19:21581600-21592400	Weak transcription	Fetal Kidney	kidney
31	chr19:21581600-21594600	Weak transcription	HepG2	liver
32	chr19:21581600-21601800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:21581800-21588400	Weak transcription	Small Intestine	intestine
34	chr19:21581800-21588800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:21581800-21607000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:21582000-21586000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr19:21582000-21588400	Weak transcription	Adipose Nuclei	Adipose
38	chr19:21582200-21590800	Weak transcription	Fetal Lung	lung
39	chr19:21582400-21585400	Weak transcription	Left Ventricle	heart
40	chr19:21582600-21586200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:21583200-21585400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr19:21583200-21585800	Weak transcription	Thymus	Thymus
43	chr19:21583200-21588800	Weak transcription	Esophagus	oesophagus
44	chr19:21583400-21586800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:21583600-21585600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:21583600-21585800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr19:21583600-21588400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:21583600-21588800	Weak transcription	Lung	lung
49	chr19:21583800-21586200	Strong transcription	Brain Germinal Matrix	brain
50	chr19:21583800-21587800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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