Variant report

Variant	rs548767413
Chromosome Location	chr18:12332270-12332271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12330971..12332498-chr18:12334634..12336451,2	K562	blood:
2	chr18:12330814..12333752-chr18:12371346..12373010,2	MCF-7	breast:
3	chr18:12329605..12332394-chr18:12338535..12341169,2	K562	blood:
4	chr18:12327453..12330082-chr18:12330908..12334376,4	K562	blood:
5	chr18:12327453..12329462-chr18:12331955..12334376,2	K562	blood:
6	chr18:12326458..12332320-chr18:12374113..12378268,7	K562	blood:

Variant related genes	Relation type
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3442047	chr18:12331977-12334525	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3408066	chr18:12332052-12334450	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12312600-12332600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:12314000-12333600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:12314400-12342600	Weak transcription	Small Intestine	intestine
4	chr18:12316400-12333600	Weak transcription	Fetal Brain Male	brain
5	chr18:12318400-12334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:12319000-12333800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr18:12319000-12336800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr18:12320800-12348200	Strong transcription	Fetal Intestine Small	intestine
9	chr18:12323000-12332400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:12323400-12342800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr18:12324800-12337000	Strong transcription	Liver	Liver
12	chr18:12324800-12338800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr18:12324800-12339400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr18:12325200-12335800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr18:12326000-12343200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr18:12326200-12366400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:12326400-12332400	Strong transcription	Fetal Intestine Large	intestine
18	chr18:12326800-12333600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:12326800-12334400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:12327000-12333800	Weak transcription	Aorta	Aorta
21	chr18:12327400-12333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:12327800-12334000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:12328000-12333600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:12328000-12333800	Weak transcription	Brain Substantia Nigra	brain
25	chr18:12328000-12335400	Weak transcription	Psoas Muscle	Psoas
26	chr18:12328000-12335600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr18:12328200-12332600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:12328200-12333600	Weak transcription	Spleen	Spleen
29	chr18:12328200-12333600	Weak transcription	A549	lung
30	chr18:12328400-12334600	Weak transcription	Stomach Mucosa	stomach
31	chr18:12328800-12333600	Weak transcription	Fetal Heart	heart
32	chr18:12328800-12333800	Weak transcription	Esophagus	oesophagus
33	chr18:12328800-12333800	Weak transcription	HSMMtube	muscle
34	chr18:12329200-12333600	Weak transcription	Fetal Kidney	kidney
35	chr18:12329600-12333400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:12329600-12333400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:12329600-12333400	Weak transcription	Pancreas	Pancrea
38	chr18:12329600-12333600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:12329600-12333600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:12329600-12333600	Weak transcription	Brain Angular Gyrus	brain
41	chr18:12329600-12333600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr18:12329600-12333600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr18:12329600-12336800	Weak transcription	NHDF-Ad	bronchial
44	chr18:12329800-12333600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr18:12329800-12333600	Weak transcription	Placenta	Placenta
46	chr18:12329800-12333600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr18:12329800-12333800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr18:12329800-12333800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr18:12329800-12333800	Weak transcription	Fetal Brain Female	brain
50	chr18:12329800-12334000	Weak transcription	Primary B cells from peripheral blood	blood

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