Variant report

Variant	rs7230215
Chromosome Location	chr18:13369940-13369941
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	MAX	chr18:13369613-13370060	MCF-7	breast:	n/a	chr18:13369812-13369822
2	FOXA2	chr18:13369435-13369956	A549	lung:	n/a	n/a
3	MAX	chr18:13369604-13370103	A549	lung:	n/a	chr18:13369812-13369822
4	TCF12	chr18:13369450-13370001	A549	lung:	n/a	chr18:13369789-13369797 chr18:13369720-13369729
5	FOXA2	chr18:13369527-13369990	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13360238..13362504-chr18:13368546..13370238,2	MCF-7	breast:
2	chr18:13361048..13363977-chr18:13367338..13370416,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267393	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12456859	0.82[AFR][1000 genomes]
rs12608402	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551367	0.94[EUR][1000 genomes]
rs1893975	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2867877	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2867878	0.93[EUR][1000 genomes]
rs6505810	0.95[EUR][1000 genomes]
rs7244756	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897035	0.82[AFR][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13351800-13374800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr18:13354200-13371800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr18:13354200-13372000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr18:13354400-13371200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:13355000-13374200	Weak transcription	Dnd41	blood
6	chr18:13356400-13379200	Weak transcription	Aorta	Aorta
7	chr18:13359400-13379400	Weak transcription	Psoas Muscle	Psoas
8	chr18:13362000-13374600	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:13364200-13371400	Enhancers	Fetal Thymus	thymus
10	chr18:13365200-13372200	Weak transcription	Brain Angular Gyrus	brain
11	chr18:13365800-13370000	Weak transcription	Fetal Brain Male	brain
12	chr18:13365800-13371200	Weak transcription	Fetal Brain Female	brain
13	chr18:13365800-13376400	Weak transcription	Liver	Liver
14	chr18:13366800-13374200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:13367200-13372200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:13367200-13372200	Weak transcription	Brain Substantia Nigra	brain
17	chr18:13367200-13374600	Weak transcription	Brain Hippocampus Middle	brain
18	chr18:13367800-13371200	Weak transcription	Spleen	Spleen
19	chr18:13367800-13371800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr18:13367800-13372600	Weak transcription	Lung	lung
21	chr18:13367800-13374800	Weak transcription	Right Atrium	heart
22	chr18:13368200-13370000	Enhancers	Thymus	Thymus
23	chr18:13368200-13372000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:13368600-13371400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr18:13368800-13370600	Enhancers	Right Ventricle	heart
26	chr18:13368800-13372200	Weak transcription	Brain Anterior Caudate	brain
27	chr18:13369000-13370000	Enhancers	Left Ventricle	heart
28	chr18:13369000-13370200	Enhancers	HepG2	liver
29	chr18:13369000-13370400	Enhancers	Fetal Intestine Small	intestine
30	chr18:13369000-13370400	Enhancers	Stomach Smooth Muscle	stomach
31	chr18:13369000-13370600	Enhancers	Colon Smooth Muscle	Colon
32	chr18:13369000-13370600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr18:13369000-13373600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr18:13369200-13370000	Enhancers	Fetal Heart	heart
35	chr18:13369200-13370200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr18:13369200-13370200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr18:13369200-13370200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr18:13369200-13370400	Enhancers	Colonic Mucosa	Colon
39	chr18:13369200-13370600	Enhancers	Fetal Intestine Large	intestine
40	chr18:13369200-13370800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr18:13369200-13370800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr18:13369200-13373000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr18:13369200-13374600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr18:13369400-13370200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:13369400-13370200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr18:13369400-13370400	Enhancers	Fetal Stomach	stomach
47	chr18:13369400-13370600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr18:13369400-13370600	Enhancers	Primary T cells from cord blood	blood
49	chr18:13369400-13370600	Enhancers	Stomach Mucosa	stomach
50	chr18:13369400-13372000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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