Variant report

Variant	rs12327176
Chromosome Location	chr18:9958614-9958615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10468661	1.00[AMR][1000 genomes]
rs10468662	1.00[AMR][1000 genomes]
rs12326418	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13381594	1.00[AMR][1000 genomes]
rs16955716	1.00[AMR][1000 genomes]
rs8089454	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1056479	chr18:9949274-10081418	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9929200-9959200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:9929400-9965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:9934400-9960400	Weak transcription	Stomach Mucosa	stomach
4	chr18:9938600-9960800	Weak transcription	Small Intestine	intestine
5	chr18:9939800-9961200	Weak transcription	Gastric	stomach
6	chr18:9940000-9961200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:9940000-9968200	Weak transcription	Right Ventricle	heart
8	chr18:9940800-9961000	Weak transcription	Fetal Brain Male	brain
9	chr18:9940800-9962800	Weak transcription	Psoas Muscle	Psoas
10	chr18:9947800-9959400	Weak transcription	Fetal Brain Female	brain
11	chr18:9951400-9960800	Weak transcription	Brain Angular Gyrus	brain
12	chr18:9951600-9965800	Weak transcription	Pancreas	Pancrea
13	chr18:9952000-9961000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:9952200-9964200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr18:9952400-9961000	Weak transcription	Fetal Intestine Small	intestine
16	chr18:9953600-9959800	Weak transcription	Fetal Stomach	stomach
17	chr18:9953600-9960800	Weak transcription	Brain Substantia Nigra	brain
18	chr18:9953600-9961000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr18:9953600-9961200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:9953600-9965200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr18:9953600-9965800	Weak transcription	Lung	lung
22	chr18:9953600-9965800	Weak transcription	Spleen	Spleen
23	chr18:9953600-9966200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:9953800-9960800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr18:9953800-9965600	Weak transcription	Aorta	Aorta
26	chr18:9954000-9966200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr18:9954000-9968000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr18:9954200-9965800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr18:9954200-9966200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:9954400-9960800	Weak transcription	Brain Hippocampus Middle	brain
31	chr18:9954400-9961000	Weak transcription	HSMMtube	muscle
32	chr18:9954400-9961200	Weak transcription	Ovary	ovary
33	chr18:9954400-9961400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:9954400-9966000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr18:9954400-9966200	Weak transcription	Left Ventricle	heart
36	chr18:9954600-9966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr18:9954600-9966200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr18:9954600-9966400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr18:9954800-9959000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr18:9954800-9961000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:9954800-9961000	Weak transcription	Brain Anterior Caudate	brain
42	chr18:9955000-9959600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:9955000-9960800	Weak transcription	Fetal Lung	lung
44	chr18:9955200-9959000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr18:9955200-9959400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr18:9955200-9961000	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:9955200-9961400	Weak transcription	Brain Germinal Matrix	brain
48	chr18:9955200-9965800	Weak transcription	NH-A	brain
49	chr18:9955200-9967000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr18:9955200-9971600	Weak transcription	Fetal Kidney	kidney

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