Variant report

Variant	rs577811918
Chromosome Location	chr19:41337497-41337498
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	SIX5	chr19:41337181-41338380	A549	lung:	n/a	n/a
2	POLR2A	chr19:41337390-41337789	HL-60	blood:	n/a	n/a
3	TCF12	chr19:41337199-41338542	A549	lung:	n/a	n/a
4	EP300	chr19:41337496-41338419	A549	lung:	n/a	n/a
5	BCL3	chr19:41337271-41338291	A549	lung:	n/a	n/a
6	MXI1	chr19:41337179-41338282	IMR90	lung:	n/a	n/a
7	FOSL2	chr19:41337103-41338638	A549	lung:	n/a	chr19:41337797-41337806
8	SP1	chr19:41337467-41338643	A549	lung:	n/a	n/a
9	POLR2A	chr19:41337371-41338319	HL-60	blood:	n/a	n/a
10	BCL3	chr19:41337399-41338400	A549	lung:	n/a	n/a
11	SIN3AK20	chr19:41337421-41338348	MCF-7	breast:	n/a	n/a
12	SP1	chr19:41337333-41338536	A549	lung:	n/a	n/a
13	KAP1	chr19:41337486-41338370	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41309668..41312632-chr19:41335922..41337729,2	MCF-7	breast:

Variant related genes	Relation type
CYP2F2P	TF binding region
ENSG00000269858	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911729	chr19:41321372-41383828	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2760509	chr19:41325004-41394336	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1056244	chr19:41329218-41397661	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv1827726	chr19:41329872-41395056	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1832156	chr19:41332004-41399077	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv817836	chr19:41333284-41363765	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1058732	chr19:41334726-41368987	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1058747	chr19:41334726-41376007	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv2763010	chr19:41334738-41380946	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv14395	chr19:41337301-41393256	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41324800-41339200	Weak transcription	Brain Germinal Matrix	brain
2	chr19:41326000-41339800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr19:41330000-41337800	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:41330000-41339800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:41330200-41349400	Weak transcription	Right Ventricle	heart
6	chr19:41331600-41337800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:41331600-41339800	Weak transcription	Fetal Lung	lung
8	chr19:41332800-41337600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr19:41333400-41337600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:41333400-41337600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:41333400-41338000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr19:41333400-41338400	Weak transcription	Primary T cells from cord blood	blood
13	chr19:41333400-41339200	Weak transcription	Brain Angular Gyrus	brain
14	chr19:41333400-41339200	Weak transcription	Brain Substantia Nigra	brain
15	chr19:41333600-41339000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:41333600-41339200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr19:41333600-41339800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:41333600-41349400	Weak transcription	Left Ventricle	heart
19	chr19:41333800-41339200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr19:41334000-41337600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:41334000-41337800	Weak transcription	Aorta	Aorta
22	chr19:41334000-41338000	Weak transcription	Fetal Stomach	stomach
23	chr19:41334000-41338200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:41334000-41338600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:41334000-41339200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:41334000-41339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:41334000-41339200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:41334000-41339200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:41334000-41339800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:41334200-41339000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr19:41334200-41339200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:41334200-41339200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:41336200-41339000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:41336400-41340200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:41336400-41340800	Enhancers	Fetal Intestine Large	intestine
36	chr19:41336600-41339400	Enhancers	Ovary	ovary
37	chr19:41336600-41340800	Enhancers	Fetal Intestine Small	intestine
38	chr19:41337000-41339600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:41337200-41337800	Enhancers	HSMM	muscle
40	chr19:41337200-41338600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr19:41337200-41338600	Enhancers	A549	lung
42	chr19:41337200-41338600	Enhancers	HSMMtube	muscle
43	chr19:41337200-41338800	Enhancers	Hela-S3	cervix
44	chr19:41337200-41338800	Enhancers	HepG2	liver
45	chr19:41337200-41339000	Enhancers	NHDF-Ad	bronchial
46	chr19:41337200-41339600	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr19:41337200-41340000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:41337200-41340000	Enhancers	Adipose Nuclei	Adipose
49	chr19:41337200-41340000	Enhancers	Liver	Liver
50	chr19:41337200-41340000	Enhancers	Osteobl	bone

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