Variant report

Variant	rs8087070
Chromosome Location	chr18:13457709-13457710
allele	A/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	chr18:13457338-13457711	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13456035..13457910-chr18:13467802..13469874,2	MCF-7	breast:
2	chr18:13452741..13455182-chr18:13455193..13457794,2	MCF-7	breast:

Variant related genes	Relation type
MIR5190	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10502421	0.83[ASN][1000 genomes]
rs8089773	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8090616	1.00[CHB][hapmap]

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	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv909411	chr18:13425604-13493554	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13445600-13458000	Enhancers	Fetal Brain Male	brain
2	chr18:13452400-13464800	Weak transcription	Colonic Mucosa	Colon
3	chr18:13452600-13462200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr18:13453000-13463200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:13453000-13464800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr18:13453000-13494800	Weak transcription	Aorta	Aorta
7	chr18:13453200-13461400	Weak transcription	Adipose Nuclei	Adipose
8	chr18:13454200-13458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:13454200-13463200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr18:13454400-13457800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr18:13455000-13460000	Enhancers	Primary hematopoietic stem cells	blood
12	chr18:13455200-13461000	Weak transcription	Liver	Liver
13	chr18:13456000-13461000	Genic enhancers	Dnd41	blood
14	chr18:13456000-13463200	Weak transcription	Brain Hippocampus Middle	brain
15	chr18:13456400-13457800	Weak transcription	Pancreas	Pancrea
16	chr18:13456400-13458000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr18:13456400-13460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:13456400-13461000	Weak transcription	Esophagus	oesophagus
19	chr18:13456400-13461000	Weak transcription	Psoas Muscle	Psoas
20	chr18:13456400-13464800	Weak transcription	Spleen	Spleen
21	chr18:13456400-13467200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:13456600-13460800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr18:13456600-13461000	Weak transcription	Left Ventricle	heart
24	chr18:13456600-13461000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr18:13456600-13461200	Weak transcription	Brain Anterior Caudate	brain
26	chr18:13456600-13462200	Weak transcription	Right Ventricle	heart
27	chr18:13456600-13497800	Weak transcription	Gastric	stomach
28	chr18:13456800-13457800	Enhancers	GM12878-XiMat	blood
29	chr18:13456800-13458000	Enhancers	HUVEC	blood vessel
30	chr18:13456800-13460400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr18:13456800-13460800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr18:13456800-13461200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr18:13456800-13463200	Genic enhancers	Fetal Thymus	thymus
34	chr18:13457000-13457800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr18:13457000-13459000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr18:13457000-13460800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr18:13457000-13461000	Weak transcription	Primary T cells from cord blood	blood
38	chr18:13457000-13461000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr18:13457000-13461000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr18:13457200-13457800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr18:13457200-13458400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:13457200-13459800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr18:13457200-13461000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:13457200-13461200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr18:13457400-13457800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:13457400-13459000	Genic enhancers	Thymus	Thymus
47	chr18:13457400-13461200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr18:13457400-13461200	Weak transcription	Brain Substantia Nigra	brain
49	chr18:13457400-13461400	Weak transcription	Fetal Brain Female	brain
50	chr18:13457400-13461600	Weak transcription	Fetal Muscle Leg	muscle

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