Variant report

Variant	rs1026330
Chromosome Location	chr18:13380824-13380825
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	GATA2	chr18:13380269-13380961	HUVEC	blood vessel:	n/a	n/a
2	ESR1	chr18:13380487-13380834	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13338474..13341223-chr18:13378222..13381217,2	MCF-7	breast:

Variant related genes	Relation type
LDLRAD4	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2060975	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8096336	0.83[TSI][hapmap];0.80[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	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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13370000-13382200	Enhancers	Fetal Brain Male	brain
2	chr18:13373000-13388800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:13374200-13381600	Enhancers	Brain Anterior Caudate	brain
4	chr18:13374400-13383800	Enhancers	Left Ventricle	heart
5	chr18:13375200-13382600	Weak transcription	Gastric	stomach
6	chr18:13375400-13382000	Enhancers	Brain Hippocampus Middle	brain
7	chr18:13375600-13382200	Enhancers	Fetal Brain Female	brain
8	chr18:13375800-13381200	Weak transcription	Stomach Mucosa	stomach
9	chr18:13375800-13383600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:13376000-13381800	Weak transcription	Osteobl	bone
11	chr18:13376000-13382400	Weak transcription	Small Intestine	intestine
12	chr18:13376400-13381800	Enhancers	Fetal Muscle Leg	muscle
13	chr18:13376600-13381800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr18:13377000-13381400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:13377200-13381200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr18:13377200-13381600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr18:13377200-13381800	Enhancers	Right Atrium	heart
18	chr18:13377200-13382600	Weak transcription	Liver	Liver
19	chr18:13377400-13381200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr18:13377400-13381400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr18:13377400-13381400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr18:13377400-13381800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr18:13377400-13381800	Enhancers	Thymus	Thymus
24	chr18:13377600-13381200	Weak transcription	Primary B cells from cord blood	blood
25	chr18:13377600-13381800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr18:13377800-13381400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr18:13377800-13381600	Weak transcription	GM12878-XiMat	blood
28	chr18:13377800-13381800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:13377800-13383000	Genic enhancers	Fetal Thymus	thymus
30	chr18:13377800-13383400	Enhancers	Fetal Heart	heart
31	chr18:13378000-13381200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr18:13378000-13381600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr18:13378000-13382000	Weak transcription	Dnd41	blood
34	chr18:13378200-13381600	Enhancers	Brain Substantia Nigra	brain
35	chr18:13378400-13381600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr18:13378600-13381600	Enhancers	Primary T cells from cord blood	blood
37	chr18:13379000-13381000	Enhancers	Brain Germinal Matrix	brain
38	chr18:13379000-13381600	Enhancers	Duodenum Mucosa	Duodenum
39	chr18:13379000-13383800	Enhancers	Right Ventricle	heart
40	chr18:13379200-13381000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr18:13379200-13381600	Enhancers	Stomach Smooth Muscle	stomach
42	chr18:13379400-13381000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr18:13379400-13381000	Enhancers	Psoas Muscle	Psoas
44	chr18:13379400-13381600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr18:13379400-13381600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr18:13379400-13381800	Enhancers	Colon Smooth Muscle	Colon
47	chr18:13379600-13381000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr18:13379600-13382200	Enhancers	Fetal Lung	lung
49	chr18:13379800-13381200	Weak transcription	Aorta	Aorta
50	chr18:13379800-13381600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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