Variant report

Variant	rs8085805
Chromosome Location	chr18:45451372-45451373
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:45451319-45451902	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45444480..45447818-chr18:45450638..45453118,3	K562	blood:
2	chr18:45450692..45455196-chr18:45455930..45459309,6	MCF-7	breast:

Variant related genes	Relation type
SMAD2	TF binding region
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11872548	1.00[AMR][1000 genomes]
rs11875051	1.00[AMR][1000 genomes]
rs11875783	1.00[AMR][1000 genomes]
rs11877848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12968971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12969668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16957829	1.00[EUR][1000 genomes]
rs16957841	1.00[EUR][1000 genomes]
rs28455633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28465195	1.00[AMR][1000 genomes]
rs28622478	1.00[AMR][1000 genomes]
rs28683114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28769310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61238329	1.00[AMR][1000 genomes]
rs6507788	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7228619	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7233149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7240327	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73953631	1.00[AMR][1000 genomes]
rs73953632	1.00[AMR][1000 genomes]
rs73953633	1.00[AMR][1000 genomes]
rs8083042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8087218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8092786	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8096366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8098860	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9945033	1.00[EUR][1000 genomes]
rs9947095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9947563	1.00[EUR][1000 genomes]
rs9947712	1.00[AMR][1000 genomes]
rs9951883	1.00[AMR][1000 genomes]
rs9952115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952992	1.00[AMR][1000 genomes]
rs9957678	1.00[AMR][1000 genomes]
rs9958863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9960371	1.00[EUR][1000 genomes]
rs9962367	1.00[EUR][1000 genomes]
rs9965552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965717	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS 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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45423200-45451400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:45433200-45455000	Weak transcription	Fetal Stomach	stomach
3	chr18:45433200-45455400	Weak transcription	Fetal Brain Male	brain
4	chr18:45433400-45452200	Weak transcription	Fetal Lung	lung
5	chr18:45434000-45454600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr18:45435400-45452400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:45435600-45455800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr18:45438600-45454600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr18:45438800-45453400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:45439000-45452200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr18:45439000-45452800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:45439000-45452800	Weak transcription	Aorta	Aorta
13	chr18:45439000-45456200	Weak transcription	Esophagus	oesophagus
14	chr18:45439000-45456200	Weak transcription	Spleen	Spleen
15	chr18:45439200-45453000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr18:45439200-45453400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr18:45439600-45455400	Weak transcription	Fetal Muscle Leg	muscle
18	chr18:45439800-45452800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:45439800-45454600	Weak transcription	Fetal Intestine Large	intestine
20	chr18:45439800-45456200	Weak transcription	Pancreas	Pancrea
21	chr18:45440000-45452400	Weak transcription	Fetal Intestine Small	intestine
22	chr18:45440600-45452400	Weak transcription	Adipose Nuclei	Adipose
23	chr18:45440600-45452400	Weak transcription	Brain Anterior Caudate	brain
24	chr18:45440800-45452400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr18:45441200-45453000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr18:45442000-45454800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr18:45442400-45452800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:45442400-45453400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:45442400-45453600	Weak transcription	NH-A	brain
30	chr18:45442400-45455000	Weak transcription	HSMM	muscle
31	chr18:45442600-45451400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr18:45442600-45454600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr18:45442800-45454400	Weak transcription	NHDF-Ad	bronchial
34	chr18:45443000-45456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:45443600-45455000	Weak transcription	Osteobl	bone
36	chr18:45444400-45454400	Enhancers	Primary T cells from cord blood	blood
37	chr18:45444800-45453200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:45444800-45456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr18:45444800-45456000	Weak transcription	Lung	lung
40	chr18:45445400-45453000	Weak transcription	NHEK	skin
41	chr18:45446000-45455400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr18:45446200-45452400	Weak transcription	Gastric	stomach
43	chr18:45446200-45454400	Weak transcription	Fetal Kidney	kidney
44	chr18:45446200-45455800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr18:45446600-45453600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr18:45447600-45452400	Weak transcription	Small Intestine	intestine
47	chr18:45447600-45456000	Weak transcription	Left Ventricle	heart
48	chr18:45448000-45453000	Weak transcription	Brain Angular Gyrus	brain
49	chr18:45448200-45452000	Weak transcription	Brain Hippocampus Middle	brain
50	chr18:45448400-45454400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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