Variant report

Variant	rs8084846
Chromosome Location	chr18:45454777-45454778
allele	C/T
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	chr18:45454367-45459190	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr18:45454672-45458824	Hela-S3	cervix:	n/a	n/a
3	IRF1	chr18:45454550-45454990	K562	blood:	n/a	chr18:45454627-45454641 chr18:45454809-45454819 chr18:45454805-45454819 chr18:45454809-45454823 chr18:45454663-45454675
4	POLR2A	chr18:45454444-45454983	GM12878	blood:	n/a	n/a
5	TBP	chr18:45454756-45455566	Hela-S3	cervix:	n/a	n/a
6	FOXA1	chr18:45454725-45455208	HepG2	liver:	n/a	n/a
7	IRF1	chr18:45454604-45456466	K562	blood:	n/a	chr18:45455005-45455012 chr18:45454627-45454641 chr18:45455862-45455869 chr18:45454809-45454819 chr18:45454805-45454819 chr18:45454809-45454823 chr18:45455069-45455081 chr18:45456026-45456038 chr18:45454663-45454675
8	POLR2A	chr18:45454445-45455407	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr18:45454681-45454955	K562	blood:	n/a	chr18:45454804-45454818

No.	Distal block	Cell Line	Cell type
1	chr18:45370062..45371817-chr18:45453252..45455227,2	MCF-7	breast:
2	chr18:45445551..45451271-chr18:45453158..45456977,7	K562	blood:
3	chr18:45412211..45417305-chr18:45454331..45458060,5	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:

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1051066	1.00[EUR][1000 genomes]
rs16958447	1.00[EUR][1000 genomes]
rs16958453	1.00[EUR][1000 genomes]
rs16958460	1.00[EUR][1000 genomes]
rs16958463	1.00[EUR][1000 genomes]
rs16958475	1.00[EUR][1000 genomes]
rs16958497	1.00[EUR][1000 genomes]
rs16958498	1.00[EUR][1000 genomes]
rs16958499	1.00[EUR][1000 genomes]
rs16958520	1.00[EUR][1000 genomes]
rs16958543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958568	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1970666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7232994	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948599	1.00[AMR][1000 genomes];1.00[EUR][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:120 , 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	chr18:45435600-45455800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr18:45439000-45456200	Weak transcription	Esophagus	oesophagus
5	chr18:45439000-45456200	Weak transcription	Spleen	Spleen
6	chr18:45439600-45455400	Weak transcription	Fetal Muscle Leg	muscle
7	chr18:45439800-45456200	Weak transcription	Pancreas	Pancrea
8	chr18:45442000-45454800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr18:45442400-45455000	Weak transcription	HSMM	muscle
10	chr18:45443000-45456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:45443600-45455000	Weak transcription	Osteobl	bone
12	chr18:45444800-45456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr18:45444800-45456000	Weak transcription	Lung	lung
14	chr18:45446000-45455400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr18:45446200-45455800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:45447600-45456000	Weak transcription	Left Ventricle	heart
17	chr18:45449400-45454800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr18:45450000-45456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:45450200-45454800	Weak transcription	Right Atrium	heart
20	chr18:45450200-45455200	Weak transcription	Right Ventricle	heart
21	chr18:45450800-45455000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr18:45451000-45455600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr18:45451000-45455600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr18:45451200-45454800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:45451200-45454800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr18:45451200-45454800	Enhancers	HepG2	liver
27	chr18:45451600-45455000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr18:45451600-45455200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr18:45451600-45456000	Enhancers	Fetal Heart	heart
30	chr18:45451800-45454800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr18:45452000-45456000	Enhancers	Brain Hippocampus Middle	brain
32	chr18:45452200-45455000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:45452200-45455000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr18:45452200-45456000	Enhancers	Brain Substantia Nigra	brain
35	chr18:45452400-45454800	Enhancers	Adipose Nuclei	Adipose
36	chr18:45452400-45455000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:45452400-45455000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr18:45452400-45455200	Enhancers	Small Intestine	intestine
39	chr18:45452400-45455800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr18:45452400-45455800	Enhancers	Brain Anterior Caudate	brain
41	chr18:45452400-45455800	Enhancers	Fetal Intestine Small	intestine
42	chr18:45452400-45456000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr18:45452600-45454800	Enhancers	Fetal Thymus	thymus
44	chr18:45452600-45456000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr18:45452800-45454800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr18:45452800-45454800	Enhancers	Fetal Lung	lung
47	chr18:45452800-45456000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr18:45453000-45454800	Enhancers	Duodenum Mucosa	Duodenum
49	chr18:45453000-45454800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr18:45453000-45455000	Enhancers	Primary hematopoietic stem cells	blood

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