Variant report

Variant	rs7232994
Chromosome Location	chr18:45433995-45433996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45433702..45435332-chr18:45435703..45437890,2	MCF-7	breast:
2	chr18:45428185..45429886-chr18:45431869..45434765,2	K562	blood:
3	chr18:45423080..45425133-chr18:45433717..45436076,2	K562	blood:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

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]
rs16958495	1.00[MEX][hapmap]
rs16958497	1.00[EUR][1000 genomes]
rs16958498	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes]
rs16958499	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes]
rs16958520	1.00[EUR][1000 genomes]
rs16958543	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958545	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958547	0.86[YRI][hapmap]
rs16958551	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958553	1.00[GIH][hapmap]
rs16958554	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958557	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958568	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958574	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958577	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958585	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958599	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958615	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958635	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958643	1.00[ASW][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.82[AFR][1000 genomes]
rs17815568	1.00[ASW][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.82[AFR][1000 genomes]
rs1970666	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72914353	0.85[AFR][1000 genomes]
rs8084846	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948599	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45420800-45439600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:45421200-45436800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:45421800-45437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:45423200-45438200	Weak transcription	Gastric	stomach
5	chr18:45423200-45451400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:45426200-45438200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr18:45427600-45434200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:45428600-45438000	Weak transcription	K562	blood
9	chr18:45429400-45434000	ZNF genes & repeats	A549	lung
10	chr18:45429600-45437800	Weak transcription	Right Atrium	heart
11	chr18:45429800-45435000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr18:45429800-45435800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr18:45429800-45438200	Weak transcription	Psoas Muscle	Psoas
14	chr18:45430600-45438200	Weak transcription	Esophagus	oesophagus
15	chr18:45430800-45435000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr18:45430800-45435200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:45430800-45438400	Weak transcription	Aorta	Aorta
18	chr18:45431000-45434600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr18:45431000-45437800	Weak transcription	Left Ventricle	heart
20	chr18:45431000-45438000	Weak transcription	Fetal Heart	heart
21	chr18:45431000-45438200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:45431000-45438200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr18:45431000-45438200	Weak transcription	Right Ventricle	heart
24	chr18:45431000-45438400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr18:45431000-45442800	Weak transcription	Lung	lung
26	chr18:45431200-45436000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:45431600-45435200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:45431600-45438000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr18:45431800-45435200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:45431800-45435200	ZNF genes & repeats	Dnd41	blood
31	chr18:45431800-45438200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr18:45432200-45435600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:45432200-45435800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr18:45432400-45434400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr18:45432400-45436000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr18:45432600-45434000	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr18:45432600-45435600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr18:45432600-45437600	Weak transcription	Fetal Intestine Large	intestine
39	chr18:45432800-45434800	ZNF genes & repeats	GM12878-XiMat	blood
40	chr18:45432800-45435400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:45432800-45436200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:45433000-45434000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr18:45433000-45434400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr18:45433000-45434800	Genic enhancers	Primary T cells from cord blood	blood
45	chr18:45433200-45434000	Weak transcription	Liver	Liver
46	chr18:45433200-45434200	Weak transcription	Brain Hippocampus Middle	brain
47	chr18:45433200-45434400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr18:45433200-45435000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr18:45433200-45435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr18:45433200-45436000	Weak transcription	Brain Germinal Matrix	brain

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