Variant report

Variant	rs530246081
Chromosome Location	chr18:13136428-13136429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13130413..13132086-chr18:13135033..13137817,2	MCF-7	breast:
2	chr18:13134910..13136836-chr18:13149613..13152006,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv515878	chr18:13122618-13142415	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3388823	chr18:13135977-13138825	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 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	chr18:13118800-13136800	Weak transcription	HSMMtube	muscle
2	chr18:13121400-13136600	Weak transcription	Brain Angular Gyrus	brain
3	chr18:13127600-13136600	Weak transcription	Right Ventricle	heart
4	chr18:13127600-13136800	Weak transcription	Aorta	Aorta
5	chr18:13130400-13136800	Weak transcription	A549	lung
6	chr18:13135000-13136600	Enhancers	Lung	lung
7	chr18:13135600-13136600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:13135600-13136800	Flanking Active TSS	Dnd41	blood
9	chr18:13135800-13136600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:13135800-13136600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:13135800-13136600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr18:13135800-13136600	Enhancers	Fetal Thymus	thymus
13	chr18:13135800-13136600	Enhancers	Left Ventricle	heart
14	chr18:13135800-13136600	Enhancers	Pancreas	Pancrea
15	chr18:13135800-13136800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr18:13135800-13136800	Enhancers	Fetal Brain Male	brain
17	chr18:13135800-13137200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr18:13135800-13138600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:13135800-13138800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr18:13136000-13136600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:13136000-13136600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr18:13136000-13136600	Enhancers	Gastric	stomach
23	chr18:13136000-13136600	Enhancers	Spleen	Spleen
24	chr18:13136000-13136800	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr18:13136000-13137000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr18:13136000-13137200	Active TSS	Brain Hippocampus Middle	brain
27	chr18:13136200-13136600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:13136200-13136600	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr18:13136200-13136600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:13136200-13136600	Enhancers	Placenta	Placenta
31	chr18:13136200-13136600	Enhancers	Psoas Muscle	Psoas
32	chr18:13136200-13136600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr18:13136200-13136600	Flanking Active TSS	HepG2	liver
34	chr18:13136200-13136600	Bivalent Enhancer	HMEC	breast
35	chr18:13136200-13136800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr18:13136200-13136800	Flanking Active TSS	GM12878-XiMat	blood
37	chr18:13136200-13137000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr18:13136200-13137000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr18:13136200-13137000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr18:13136200-13137200	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr18:13136200-13137400	Transcr. at gene 5' and 3'	Thymus	Thymus
42	chr18:13136200-13137600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr18:13136200-13137800	Flanking Active TSS	Colonic Mucosa	Colon
44	chr18:13136200-13138200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr18:13136200-13138400	Active TSS	Liver	Liver
46	chr18:13136200-13138800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr18:13136400-13136600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
48	chr18:13136400-13136600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr18:13136400-13136600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr18:13136400-13136600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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