Variant report

Variant	rs7257332
Chromosome Location	chr19:18821024-18821025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18805952..18808937-chr19:18819749..18821987,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10404726	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668971	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878477	0.81[EUR][1000 genomes]
rs11880870	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808149	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808150	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808152	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808153	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757318	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv960927	chr19:18808010-18837082	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18797200-18822400	Weak transcription	HepG2	liver
2	chr19:18812000-18844200	Weak transcription	Fetal Kidney	kidney
3	chr19:18812200-18823600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:18812400-18821800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:18812400-18821800	Weak transcription	Fetal Intestine Small	intestine
6	chr19:18812400-18824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:18812400-18824000	Weak transcription	Fetal Brain Female	brain
8	chr19:18812400-18827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:18812400-18827800	Weak transcription	Brain Germinal Matrix	brain
10	chr19:18812600-18821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:18812600-18825800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:18812600-18828200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:18818000-18836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:18818600-18822400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr19:18818800-18821200	Enhancers	Lung	lung
16	chr19:18818800-18821200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr19:18818800-18821400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr19:18818800-18821800	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:18818800-18823600	Enhancers	Fetal Muscle Trunk	muscle
20	chr19:18819000-18824000	Enhancers	Fetal Muscle Leg	muscle
21	chr19:18819000-18844000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:18819200-18821200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:18819400-18821400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr19:18819400-18821400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:18819600-18821200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr19:18819600-18821200	Enhancers	Colonic Mucosa	Colon
27	chr19:18819600-18821400	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:18819600-18821400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr19:18819600-18824400	Weak transcription	Aorta	Aorta
30	chr19:18819800-18821200	Enhancers	Left Ventricle	heart
31	chr19:18819800-18822000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:18819800-18822600	Enhancers	Adipose Nuclei	Adipose
33	chr19:18819800-18823800	Weak transcription	Pancreas	Pancrea
34	chr19:18820000-18821200	Enhancers	Right Ventricle	heart
35	chr19:18820000-18822600	Enhancers	Spleen	Spleen
36	chr19:18820000-18822800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr19:18820000-18826400	Weak transcription	Thymus	Thymus
38	chr19:18820000-18826600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:18820200-18821200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:18820200-18823800	Weak transcription	Brain Anterior Caudate	brain
41	chr19:18820200-18823800	Weak transcription	Brain Hippocampus Middle	brain
42	chr19:18820400-18821200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr19:18820400-18821400	Genic enhancers	Fetal Stomach	stomach
44	chr19:18820400-18821800	Weak transcription	Fetal Thymus	thymus
45	chr19:18820400-18823800	Weak transcription	Brain Angular Gyrus	brain
46	chr19:18820400-18833000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr19:18820400-18837000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:18820400-18847200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr19:18820600-18821200	Enhancers	Primary hematopoietic stem cells	blood
50	chr19:18820600-18821200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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