Variant report

Variant	rs540700254
Chromosome Location	chr19:41325328-41325329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41323756..41325875-chr19:41632979..41635488,2	MCF-7	breast:
2	chr19:41252878..41254657-chr19:41324128..41326565,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	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
7	nsv961219	chr19:41324679-41328254	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
2	chr19:41316400-41325400	Weak transcription	Dnd41	blood
3	chr19:41320200-41332800	Weak transcription	HSMMtube	muscle
4	chr19:41322600-41330600	Enhancers	Placenta	Placenta
5	chr19:41322800-41326000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr19:41323200-41326200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr19:41323800-41325400	Enhancers	Fetal Intestine Small	intestine
8	chr19:41323800-41325800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr19:41323800-41325800	Enhancers	Liver	Liver
10	chr19:41323800-41325800	Enhancers	Colon Smooth Muscle	Colon
11	chr19:41323800-41325800	Enhancers	Fetal Stomach	stomach
12	chr19:41324000-41325800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr19:41324000-41326000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:41324000-41326000	Enhancers	Fetal Thymus	thymus
15	chr19:41324200-41325800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr19:41324200-41325800	Enhancers	GM12878-XiMat	blood
17	chr19:41324400-41325800	Enhancers	Spleen	Spleen
18	chr19:41324400-41325800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr19:41324400-41326000	Enhancers	Primary hematopoietic stem cells	blood
20	chr19:41324400-41327200	Enhancers	K562	blood
21	chr19:41324600-41325400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:41324600-41325400	Enhancers	Fetal Muscle Trunk	muscle
23	chr19:41324600-41325600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:41324600-41325800	Enhancers	HUVEC	blood vessel
25	chr19:41324600-41326000	Enhancers	Primary B cells from cord blood	blood
26	chr19:41324600-41328200	Weak transcription	Gastric	stomach
27	chr19:41324600-41328200	Weak transcription	Left Ventricle	heart
28	chr19:41324600-41328200	Weak transcription	Lung	lung
29	chr19:41324600-41328400	Weak transcription	Fetal Lung	lung
30	chr19:41324600-41328600	Weak transcription	NH-A	brain
31	chr19:41324600-41332600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:41324600-41332600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:41324600-41332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr19:41324600-41332600	Weak transcription	NHLF	lung
35	chr19:41324800-41325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:41324800-41325400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:41324800-41325600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr19:41324800-41325800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr19:41324800-41325800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:41324800-41325800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr19:41324800-41325800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:41324800-41325800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:41324800-41325800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr19:41324800-41325800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr19:41324800-41325800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:41324800-41325800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:41324800-41325800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr19:41324800-41325800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:41324800-41325800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:41324800-41325800	Enhancers	Brain Angular Gyrus	brain

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