Variant report

Variant	rs7248397
Chromosome Location	chr19:38133211-38133212
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	chr19:38131156..38133498-chr19:38141254..38142957,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11083427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11083428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11083430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1128327	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11665759	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11666662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11666738	1.00[CEU][hapmap];0.90[JPT][hapmap];0.99[EUR][1000 genomes]
rs11672440	0.87[CEU][hapmap];0.90[JPT][hapmap]
rs12151280	1.00[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs12162238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12459013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12460230	0.90[JPT][hapmap]
rs12462505	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1478462	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17303301	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17305326	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2045911	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2126976	0.82[ASN][1000 genomes]
rs2279150	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2290999	1.00[CEU][hapmap];0.90[JPT][hapmap];0.99[EUR][1000 genomes]
rs241952	0.82[CEU][hapmap]
rs241955	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35205379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59426132	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73031309	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73031321	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73031322	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73031326	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73033117	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73033129	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73033139	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73033145	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73035158	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73035164	0.98[EUR][1000 genomes]
rs73037036	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73039018	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]

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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38121800-38139200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:38121800-38140600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:38123400-38138800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:38123600-38133600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr19:38123600-38140000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:38123600-38140800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:38123600-38141400	ZNF genes & repeats	Liver	Liver
8	chr19:38124000-38134200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
9	chr19:38124400-38135000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:38124600-38140800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:38124600-38142000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:38124800-38134600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:38124800-38134800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:38124800-38136400	ZNF genes & repeats	Fetal Lung	lung
15	chr19:38124800-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:38124800-38144400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:38125000-38135600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
18	chr19:38125000-38136800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr19:38125600-38143200	ZNF genes & repeats	A549	lung
20	chr19:38125800-38133600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr19:38125800-38135000	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr19:38125800-38139600	ZNF genes & repeats	Colon Smooth Muscle	Colon
23	chr19:38125800-38140800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr19:38126000-38135200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr19:38126000-38135800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr19:38126000-38141400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr19:38126200-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:38126400-38139400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
29	chr19:38127200-38144600	Weak transcription	Hela-S3	cervix
30	chr19:38127600-38133600	Weak transcription	Right Ventricle	heart
31	chr19:38129200-38138400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:38129200-38139600	Strong transcription	HSMM	muscle
33	chr19:38129600-38139000	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr19:38129800-38134000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:38130000-38141600	Strong transcription	Osteobl	bone
36	chr19:38130400-38134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:38130400-38138400	Strong transcription	Brain Germinal Matrix	brain
38	chr19:38130400-38142200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr19:38130600-38133600	Weak transcription	Esophagus	oesophagus
40	chr19:38130600-38133600	Weak transcription	Fetal Stomach	stomach
41	chr19:38130600-38134800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:38130600-38138000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:38130600-38139800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:38131000-38139200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr19:38131000-38141000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:38131200-38134000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:38131200-38136800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:38131400-38134200	ZNF genes & repeats	Aorta	Aorta
49	chr19:38131600-38133600	Weak transcription	Lung	lung
50	chr19:38131600-38134000	Strong transcription	Primary B cells from cord blood	blood

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