Variant report

Variant	rs750216
Chromosome Location	chr19:19672267-19672268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19665908..19668472-chr19:19672095..19673816,2	MCF-7	breast:
2	chr19:19671109..19672811-chr19:19752825..19755420,2	K562	blood:
3	chr19:19672101..19675728-chr19:19736936..19740582,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064547	Chromatin interaction
ENSG00000089639	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12611058	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12974028	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12977917	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12981270	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12982628	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12985142	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1476459	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs33982830	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34096655	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34316070	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34316527	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34324119	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34424437	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35209041	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35437712	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35553578	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35842591	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56083851	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62134460	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62137783	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62137816	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62137820	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137822	0.87[EUR][1000 genomes]
rs7247165	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73004920	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19643600-19675400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:19652000-19688400	Weak transcription	Right Atrium	heart
3	chr19:19652200-19680000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:19652600-19686200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:19659200-19686200	Weak transcription	Fetal Brain Male	brain
6	chr19:19661400-19675600	Weak transcription	Ovary	ovary
7	chr19:19661400-19677800	Weak transcription	Fetal Lung	lung
8	chr19:19661600-19673400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:19661800-19673400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:19665600-19672600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:19665600-19677200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:19665600-19682400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:19665600-19685600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:19665800-19672600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:19666400-19672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:19666600-19679600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:19666800-19681000	Weak transcription	Pancreas	Pancrea
18	chr19:19667600-19679600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:19668200-19675600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr19:19668600-19673200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:19669200-19679600	Weak transcription	NHDF-Ad	bronchial
22	chr19:19669400-19675400	Weak transcription	GM12878-XiMat	blood
23	chr19:19669400-19683200	Strong transcription	Fetal Stomach	stomach
24	chr19:19669400-19683600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:19669600-19679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:19669600-19680200	Weak transcription	Fetal Intestine Small	intestine
27	chr19:19669600-19680800	Weak transcription	Gastric	stomach
28	chr19:19670000-19672800	Weak transcription	Fetal Brain Female	brain
29	chr19:19670200-19672400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:19670800-19672400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:19671000-19672800	Weak transcription	Brain Germinal Matrix	brain
32	chr19:19671000-19686200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:19671200-19672800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:19671200-19673800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr19:19671200-19674200	Weak transcription	Fetal Thymus	thymus
36	chr19:19671200-19676800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:19671200-19678200	Weak transcription	Spleen	Spleen
38	chr19:19671200-19681000	Weak transcription	Lung	lung
39	chr19:19671200-19681800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:19671200-19686400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr19:19671200-19686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:19671400-19672400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr19:19671400-19672600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:19671400-19672600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:19671400-19673000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:19671400-19673000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:19671400-19673600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:19671400-19673800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:19671400-19675400	Weak transcription	Primary T cells from cord blood	blood
50	chr19:19671400-19681000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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