Variant report

Variant	rs1047433
Chromosome Location	chr18:29128572-29128573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29089738..29092422-chr18:29128090..29130094,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1449078	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667216	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667218	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1791173	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1791176	0.81[EUR][1000 genomes]
rs1791230	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1791233	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1791235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941938	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2230233	0.96[CEU][hapmap];0.98[EUR][1000 genomes]
rs2276149	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2595364	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2704038	0.94[EUR][1000 genomes]
rs2704042	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28376849	0.87[EUR][1000 genomes]
rs3108921	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132910	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7243604	1.00[CEU][hapmap];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29096800-29134600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:29097200-29129400	Weak transcription	Small Intestine	intestine
3	chr18:29097800-29130600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:29101400-29131800	Weak transcription	Stomach Mucosa	stomach
5	chr18:29117000-29136000	Weak transcription	A549	lung
6	chr18:29120000-29129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:29122000-29128800	Weak transcription	NH-A	brain
8	chr18:29122800-29131800	Weak transcription	Colonic Mucosa	Colon
9	chr18:29123400-29128600	Weak transcription	Right Ventricle	heart
10	chr18:29123400-29128800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:29123400-29128800	Weak transcription	Fetal Stomach	stomach
12	chr18:29123400-29129800	Weak transcription	Adipose Nuclei	Adipose
13	chr18:29123600-29131200	Weak transcription	Placenta	Placenta
14	chr18:29123600-29142200	Weak transcription	Fetal Kidney	kidney
15	chr18:29126400-29128600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:29126600-29129000	Weak transcription	Gastric	stomach
17	chr18:29126600-29131000	Weak transcription	Liver	Liver
18	chr18:29126600-29132800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:29126600-29133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:29126600-29136200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr18:29126800-29128800	Weak transcription	Fetal Intestine Small	intestine
22	chr18:29126800-29129000	Weak transcription	HepG2	liver
23	chr18:29126800-29129600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:29126800-29136000	Weak transcription	GM12878-XiMat	blood
25	chr18:29126800-29136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr18:29127000-29128600	Weak transcription	Fetal Thymus	thymus
27	chr18:29127000-29128600	Weak transcription	Thymus	Thymus
28	chr18:29127000-29136200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr18:29127200-29128600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr18:29127200-29129000	Weak transcription	Fetal Intestine Large	intestine
31	chr18:29127200-29129000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr18:29127200-29129000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr18:29127200-29131600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:29127200-29131600	Weak transcription	Fetal Lung	lung
35	chr18:29127200-29136000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr18:29127200-29136200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr18:29127200-29136200	Weak transcription	Ovary	ovary
38	chr18:29127200-29136200	Weak transcription	Hela-S3	cervix
39	chr18:29127400-29129000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr18:29127400-29129000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr18:29127400-29129000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:29127400-29129000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr18:29127400-29129000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr18:29127400-29129200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:29127400-29129600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr18:29127400-29129600	Weak transcription	HMEC	breast
47	chr18:29127400-29131200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr18:29127400-29132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:29127400-29136000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr18:29127600-29136000	Weak transcription	NHEK	skin

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