Variant report

Variant	rs12955356
Chromosome Location	chr18:9726891-9726892
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9726328..9728477-chr18:9753850..9756440,2	K562	blood:
2	chr18:9725743..9727920-chr18:9740670..9742865,2	MCF-7	breast:
3	chr18:9724906..9727058-chr18:9769871..9771475,2	K562	blood:
4	chr18:9720309..9723039-chr18:9725198..9728251,4	K562	blood:
5	chr18:9719464..9723291-chr18:9723398..9728307,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12955768	0.89[EUR][1000 genomes]
rs2017080	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35354526	0.89[EUR][1000 genomes]
rs35502353	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9710200-9733600	Weak transcription	Left Ventricle	heart
2	chr18:9710400-9732000	Weak transcription	Fetal Stomach	stomach
3	chr18:9712800-9732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:9713600-9732200	Weak transcription	Adipose Nuclei	Adipose
5	chr18:9716800-9732400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr18:9717200-9732000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr18:9718200-9732000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr18:9718200-9732600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr18:9719000-9732000	Weak transcription	HSMMtube	muscle
10	chr18:9719800-9733600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:9719800-9734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:9720000-9730000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:9720000-9730600	Weak transcription	NHLF	lung
14	chr18:9720000-9737400	Weak transcription	Brain Anterior Caudate	brain
15	chr18:9720000-9742000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr18:9720400-9730600	Weak transcription	NH-A	brain
17	chr18:9720600-9730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:9720600-9730600	Weak transcription	A549	lung
19	chr18:9720600-9732000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr18:9720600-9733600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr18:9720600-9734200	Weak transcription	HUVEC	blood vessel
22	chr18:9720800-9737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr18:9721000-9741600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:9721200-9737200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr18:9721800-9737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:9722200-9727600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:9722400-9730800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:9722400-9730800	Weak transcription	Gastric	stomach
29	chr18:9722400-9733400	Weak transcription	Right Ventricle	heart
30	chr18:9722400-9734400	Weak transcription	Colonic Mucosa	Colon
31	chr18:9722800-9730800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr18:9722800-9730800	Weak transcription	HMEC	breast
33	chr18:9722800-9730800	Weak transcription	NHEK	skin
34	chr18:9723000-9727600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:9723000-9730800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:9723400-9732200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr18:9723800-9734200	Weak transcription	Fetal Lung	lung
38	chr18:9724000-9730800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:9724000-9730800	Weak transcription	Placenta	Placenta
40	chr18:9724000-9732000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:9724000-9737200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:9725000-9730400	Weak transcription	NHDF-Ad	bronchial
43	chr18:9725000-9730800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr18:9725000-9732000	Weak transcription	Ovary	ovary
45	chr18:9725000-9732200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr18:9725000-9737600	Weak transcription	Brain Hippocampus Middle	brain
47	chr18:9725200-9728800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr18:9725200-9730400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:9725200-9730800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:9725400-9728200	Weak transcription	Hela-S3	cervix

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