Variant report

Variant	rs10407522
Chromosome Location	chr19:19591316-19591317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19536218..19537719-chr19:19589722..19592712,2	K562	blood:
2	chr19:19590124..19591949-chr19:19596092..19599221,4	K562	blood:
3	chr19:19585281..19589285-chr19:19590381..19594944,7	K562	blood:
4	chr19:19584315..19588308-chr19:19588802..19591974,4	K562	blood:

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

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

rs_ID	r²[population]
rs10404656	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10409927	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10412787	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10419026	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10419240	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10426633	0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13344439	0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16996085	0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16996119	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2304097	0.87[YRI][hapmap]
rs28434154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28553975	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60455087	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7254150	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922883	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922888	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs952609	0.96[YRI][hapmap];0.80[AMR][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	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	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
3	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19577800-19598000	Weak transcription	Ovary	ovary
2	chr19:19579200-19598000	Weak transcription	Small Intestine	intestine
3	chr19:19579400-19599400	Weak transcription	Brain Angular Gyrus	brain
4	chr19:19579800-19593400	Weak transcription	Fetal Kidney	kidney
5	chr19:19579800-19595600	Weak transcription	Osteobl	bone
6	chr19:19579800-19595800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:19579800-19595800	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:19579800-19595800	Weak transcription	HUVEC	blood vessel
9	chr19:19579800-19598600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:19579800-19599200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:19579800-19599800	Weak transcription	Brain Substantia Nigra	brain
12	chr19:19580600-19595200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:19580600-19597200	Weak transcription	Brain Anterior Caudate	brain
14	chr19:19580800-19593600	Strong transcription	Fetal Intestine Small	intestine
15	chr19:19581600-19595200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:19582200-19597600	Strong transcription	Dnd41	blood
17	chr19:19583600-19593200	Weak transcription	Fetal Lung	lung
18	chr19:19584200-19600000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:19584400-19595600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:19585400-19596000	Weak transcription	HMEC	breast
21	chr19:19585600-19594200	Weak transcription	NH-A	brain
22	chr19:19586200-19593200	Weak transcription	Fetal Heart	heart
23	chr19:19586200-19593600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:19586400-19595600	Weak transcription	NHDF-Ad	bronchial
25	chr19:19586600-19593600	Weak transcription	Psoas Muscle	Psoas
26	chr19:19586800-19594000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:19587000-19591400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr19:19587000-19595600	Weak transcription	Left Ventricle	heart
29	chr19:19587000-19599000	Weak transcription	Brain Germinal Matrix	brain
30	chr19:19587000-19599200	Weak transcription	Fetal Brain Female	brain
31	chr19:19587200-19599600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:19587400-19593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:19587400-19595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:19587600-19591400	Weak transcription	Adipose Nuclei	Adipose
35	chr19:19587600-19593200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr19:19587600-19593200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:19587600-19593400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:19587600-19593400	Weak transcription	HSMM	muscle
39	chr19:19587600-19595200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:19587600-19598600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:19588000-19591400	Weak transcription	Spleen	Spleen
42	chr19:19588000-19593200	Weak transcription	Right Ventricle	heart
43	chr19:19588000-19593600	Weak transcription	NHLF	lung
44	chr19:19588000-19598400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:19588200-19591400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:19588400-19591400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:19588600-19591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:19588600-19591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:19588600-19591600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:19588800-19591400	Weak transcription	Muscle Satellite Cultured Cells	--

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