Variant report

Variant	rs73004975
Chromosome Location	chr19:19727152-19727153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19724892..19728058-chr19:19728649..19732135,4	MCF-7	breast:
2	chr19:19726214..19727883-chr19:19728161..19730826,3	MCF-7	breast:
3	chr19:19726185..19727830-chr19:19728195..19729842,2	K562	blood:

Variant related genes	Relation type
ENSG00000105717	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10500212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12608729	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12610185	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12610191	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16996148	0.82[EUR][1000 genomes]
rs16996185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17216525	0.82[EUR][1000 genomes]
rs17217098	0.86[EUR][1000 genomes]
rs57504626	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58847337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73004926	0.88[EUR][1000 genomes]
rs73004933	0.88[EUR][1000 genomes]
rs73004951	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73004959	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73004962	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73004966	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73004967	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19706600-19728200	Weak transcription	Fetal Brain Male	brain
2	chr19:19707600-19728600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:19713800-19728000	Weak transcription	Brain Germinal Matrix	brain
4	chr19:19714000-19728800	Weak transcription	Brain Anterior Caudate	brain
5	chr19:19717400-19728000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr19:19717400-19728200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:19717400-19728600	Weak transcription	Esophagus	oesophagus
8	chr19:19718000-19728000	Weak transcription	Primary T cells from cord blood	blood
9	chr19:19719600-19729000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:19719800-19728600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:19719800-19728600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:19719800-19728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:19720000-19728000	Weak transcription	Fetal Thymus	thymus
14	chr19:19720000-19728400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:19722000-19728000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:19723600-19728400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:19724400-19727200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:19724400-19727200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr19:19724400-19728000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr19:19724400-19728200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:19724400-19728600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:19724600-19727800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr19:19724600-19728600	Weak transcription	Fetal Stomach	stomach
24	chr19:19724600-19729000	Weak transcription	Osteobl	bone
25	chr19:19724800-19728000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr19:19724800-19728400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:19724800-19728400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr19:19724800-19728400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:19724800-19728600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:19724800-19728600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:19724800-19728600	Weak transcription	Fetal Muscle Leg	muscle
32	chr19:19724800-19728800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:19724800-19728800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:19724800-19728800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:19725000-19728000	Weak transcription	Stomach Mucosa	stomach
36	chr19:19725000-19728000	Weak transcription	Thymus	Thymus
37	chr19:19725000-19728600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:19725000-19728600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:19725000-19728600	Weak transcription	Gastric	stomach
40	chr19:19725000-19728600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:19725000-19728800	Weak transcription	Fetal Kidney	kidney
42	chr19:19725000-19728800	Weak transcription	HSMM	muscle
43	chr19:19725000-19728800	Weak transcription	NHEK	skin
44	chr19:19725000-19729000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:19725000-19729000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:19725200-19728800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr19:19725600-19728800	Weak transcription	A549	lung
48	chr19:19725800-19728800	Weak transcription	HMEC	breast
49	chr19:19726000-19727200	Enhancers	GM12878-XiMat	blood
50	chr19:19726200-19727200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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