Variant report

Variant	rs577130492
Chromosome Location	chr19:41333965-41333966
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	RCOR1	chr19:41333800-41334168	K562	blood:	n/a	n/a
2	RCOR1	chr19:41333781-41334180	K562	blood:	n/a	n/a
3	SPI1	chr19:41333820-41334039	K562	blood:	n/a	n/a
4	CBX3	chr19:41333751-41334179	K562	blood:	n/a	n/a
5	ZNF143	chr19:41333840-41334194	K562	blood:	n/a	n/a
6	SPI1	chr19:41333732-41334187	HL-60	blood:	n/a	n/a
7	POLR2A	chr19:41333878-41334336	K562	blood:	n/a	n/a
8	CBX3	chr19:41333737-41334193	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41333069..41334753-chr19:41334934..41336779,2	K562	blood:

Variant related genes	Relation type
CYP2F2P	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	esv3349365	chr19:41330612-41335310	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	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
11	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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41324800-41337400	Weak transcription	Colonic Mucosa	Colon
2	chr19:41324800-41339200	Weak transcription	Brain Germinal Matrix	brain
3	chr19:41325000-41337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:41325600-41337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:41326000-41339800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr19:41328000-41334000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:41328800-41337400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr19:41329000-41335400	Weak transcription	Fetal Muscle Leg	muscle
9	chr19:41329200-41334000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:41329200-41335000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:41329200-41337200	Weak transcription	A549	lung
12	chr19:41329400-41334200	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:41329800-41334000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr19:41329800-41334200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr19:41330000-41337800	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:41330000-41339800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:41330200-41335000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr19:41330200-41349400	Weak transcription	Right Ventricle	heart
19	chr19:41330400-41337200	Weak transcription	HepG2	liver
20	chr19:41331000-41334000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr19:41331000-41334200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr19:41331000-41335000	Weak transcription	Lung	lung
23	chr19:41331600-41337800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:41331600-41339800	Weak transcription	Fetal Lung	lung
25	chr19:41331800-41334400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:41332600-41334000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:41332600-41334000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:41332600-41334000	Strong transcription	Aorta	Aorta
29	chr19:41332600-41334000	Strong transcription	Fetal Stomach	stomach
30	chr19:41332600-41334000	Strong transcription	Rectal Smooth Muscle	rectum
31	chr19:41332600-41334000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr19:41332600-41334200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:41332600-41334200	Strong transcription	Liver	Liver
34	chr19:41332600-41334200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:41332600-41334200	Strong transcription	Fetal Intestine Small	intestine
36	chr19:41332600-41334200	Strong transcription	NHLF	lung
37	chr19:41332600-41334400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:41332600-41334600	Strong transcription	Fetal Brain Female	brain
39	chr19:41332600-41335200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:41332600-41335600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:41332600-41336200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:41332800-41334000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:41332800-41334000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:41332800-41334000	Strong transcription	Brain Cingulate Gyrus	brain
45	chr19:41332800-41334000	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr19:41332800-41337600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr19:41333000-41334200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:41333000-41337400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr19:41333200-41334000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:41333200-41334000	Strong transcription	Spleen	Spleen

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