Variant report

Variant	rs4808963
Chromosome Location	chr19:19598213-19598214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19495951..19498797-chr19:19597041..19601081,5	MCF-7	breast:
2	chr19:19590124..19591949-chr19:19596092..19599221,4	K562	blood:
3	chr19:19570132..19572642-chr19:19597884..19599709,3	K562	blood:
4	chr19:19587338..19590282-chr19:19595416..19599165,3	MCF-7	breast:
5	chr19:19597981..19601922-chr19:19625758..19628730,4	K562	blood:
6	chr19:19514543..19521149-chr19:19597604..19603543,11	MCF-7	breast:
7	chr19:19430445..19433182-chr19:19596192..19599551,3	MCF-7	breast:
8	chr19:19516406..19519425-chr19:19597081..19600635,4	MCF-7	breast:
9	chr19:19513509..19518475-chr19:19595979..19603373,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258674	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000105705	Chromatin interaction

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

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

rs_ID	r²[population]
rs1054308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12462698	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12971734	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2033481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34183201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34539063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35156688	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36113815	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808201	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808949	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7256550	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7257931	1.00[AFR][1000 genomes]
rs74181134	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74181137	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74182639	1.00[AFR][1000 genomes]
rs7508358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7508458	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19579400-19599400	Weak transcription	Brain Angular Gyrus	brain
2	chr19:19579800-19598600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:19579800-19599200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:19579800-19599800	Weak transcription	Brain Substantia Nigra	brain
5	chr19:19584200-19600000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:19587000-19599000	Weak transcription	Brain Germinal Matrix	brain
7	chr19:19587000-19599200	Weak transcription	Fetal Brain Female	brain
8	chr19:19587200-19599600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:19587600-19598600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:19588000-19598400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:19588800-19599200	Weak transcription	Hela-S3	cervix
12	chr19:19589400-19598400	Weak transcription	Stomach Mucosa	stomach
13	chr19:19590400-19599400	Genic enhancers	Fetal Thymus	thymus
14	chr19:19591400-19598600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:19591400-19598800	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr19:19592000-19599200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:19592400-19600000	Weak transcription	Aorta	Aorta
18	chr19:19593600-19598600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:19594000-19598600	Weak transcription	Psoas Muscle	Psoas
20	chr19:19594200-19598400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:19594400-19598400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr19:19594800-19599000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:19595000-19601400	Enhancers	Fetal Lung	lung
24	chr19:19595200-19601600	Enhancers	Placenta	Placenta
25	chr19:19595600-19599000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:19595600-19599600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr19:19595600-19599600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr19:19595800-19599200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:19595800-19599800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr19:19595800-19601200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr19:19595800-19601400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:19595800-19601400	Genic enhancers	Fetal Intestine Small	intestine
33	chr19:19596000-19600400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr19:19596200-19599000	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:19596200-19599600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:19596400-19598400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:19596400-19598800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:19596400-19598800	Weak transcription	Colon Smooth Muscle	Colon
39	chr19:19596400-19599000	Weak transcription	Adipose Nuclei	Adipose
40	chr19:19596600-19598400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr19:19596600-19598400	Weak transcription	Left Ventricle	heart
42	chr19:19596600-19598600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr19:19596600-19598600	Weak transcription	Right Atrium	heart
44	chr19:19596600-19598600	Weak transcription	HUVEC	blood vessel
45	chr19:19596600-19599400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:19596600-19599400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr19:19596600-19599400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:19596600-19600600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr19:19596600-19601400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr19:19596800-19598400	Weak transcription	Right Ventricle	heart

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