Variant report

Variant	rs8096366
Chromosome Location	chr18:45453203-45453204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:45453014-45453354	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr18:45452368-45453771	GM12878	blood:	n/a	n/a
3	GATA1	chr18:45452159-45453214	PBDE	blood:	n/a	n/a
4	TBL1XR1	chr18:45452708-45453308	K562	blood:	n/a	n/a
5	POLR2A	chr18:45453154-45453962	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr18:45452588-45453290	K562	blood:	n/a	n/a
7	POLR2A	chr18:45453183-45453816	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:45445551..45451271-chr18:45453158..45456977,7	K562	blood:
2	chr18:45425101..45428042-chr18:45452196..45454277,2	MCF-7	breast:
3	chr18:45451758..45454511-chr18:45455218..45457678,2	MCF-7	breast:
4	chr18:45412744..45415150-chr18:45452720..45455335,2	MCF-7	breast:
5	chr18:45450692..45455196-chr18:45455930..45459309,6	MCF-7	breast:
6	chr18:45439039..45441634-chr18:45452955..45455422,2	MCF-7	breast:
7	chr18:45452201..45455106-chr18:45476820..45479374,2	MCF-7	breast:

No data

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

Extended variants
information (count: 45 )
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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7228619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7233149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235743	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7240327	0.85[YRI][hapmap];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084338	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085921	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8087218	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8092786	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs8098860	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9945033	1.00[EUR][1000 genomes]
rs9947095	0.85[AFR][1000 genomes];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952878	0.87[YRI][hapmap];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[YRI][hapmap];1.00[AFR][1000 genomes];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[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965717	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	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
2	nsv909615	chr18:45452321-45493026	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45433200-45455000	Weak transcription	Fetal Stomach	stomach
2	chr18:45433200-45455400	Weak transcription	Fetal Brain Male	brain
3	chr18:45434000-45454600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr18:45435600-45455800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr18:45438600-45454600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr18:45438800-45453400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:45439000-45456200	Weak transcription	Esophagus	oesophagus
8	chr18:45439000-45456200	Weak transcription	Spleen	Spleen
9	chr18:45439200-45453400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr18:45439600-45455400	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:45439800-45454600	Weak transcription	Fetal Intestine Large	intestine
12	chr18:45439800-45456200	Weak transcription	Pancreas	Pancrea
13	chr18:45442000-45454800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:45442400-45453400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:45442400-45453600	Weak transcription	NH-A	brain
16	chr18:45442400-45455000	Weak transcription	HSMM	muscle
17	chr18:45442600-45454600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr18:45442800-45454400	Weak transcription	NHDF-Ad	bronchial
19	chr18:45443000-45456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:45443600-45455000	Weak transcription	Osteobl	bone
21	chr18:45444400-45454400	Enhancers	Primary T cells from cord blood	blood
22	chr18:45444800-45456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr18:45444800-45456000	Weak transcription	Lung	lung
24	chr18:45446000-45455400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr18:45446200-45454400	Weak transcription	Fetal Kidney	kidney
26	chr18:45446200-45455800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:45446600-45453600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr18:45447600-45456000	Weak transcription	Left Ventricle	heart
29	chr18:45448400-45454400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:45448600-45453600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:45449400-45454800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr18:45450000-45454400	Weak transcription	Primary B cells from cord blood	blood
33	chr18:45450000-45456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:45450200-45453400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr18:45450200-45453600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:45450200-45454600	Weak transcription	Ovary	ovary
37	chr18:45450200-45454800	Weak transcription	Right Atrium	heart
38	chr18:45450200-45455200	Weak transcription	Right Ventricle	heart
39	chr18:45450800-45453600	Enhancers	Dnd41	blood
40	chr18:45450800-45455000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr18:45451000-45453400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr18:45451000-45455600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr18:45451000-45455600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr18:45451200-45453400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr18:45451200-45454600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr18:45451200-45454600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:45451200-45454800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr18:45451200-45454800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr18:45451200-45454800	Enhancers	HepG2	liver
50	chr18:45451400-45453400	Enhancers	Rectal Mucosa Donor 29	rectum

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