Variant report

Variant	rs73930678
Chromosome Location	chr19:40477762-40477763
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40475224..40479165-chr19:40500138..40503908,5	MCF-7	breast:
2	chr19:40475779..40479202-chr19:40484390..40487184,3	MCF-7	breast:
3	chr19:40476074..40478265-chr19:40727904..40730547,2	K562	blood:
4	chr19:40471803..40479510-chr19:40500414..40506141,13	K562	blood:
5	chr19:40474074..40479560-chr19:40500872..40505885,15	K562	blood:
6	chr19:40335423..40338376-chr19:40475745..40478585,3	MCF-7	breast:
7	chr19:40477285..40477977-chrX:49022612..49023564,2	Hela-S3	cervix:
8	chr19:40476601..40478274-chr19:40696597..40698505,2	MCF-7	breast:
9	chr19:40475223..40478471-chr19:40501440..40504433,4	MCF-7	breast:
10	chr19:40476948..40477839-chr20:31349807..31350601,2	HCT-116	colon:
11	chr19:40473089..40482317-chr19:40483091..40492558,21	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187187	Chromatin interaction
ENSG00000105219	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000088305	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10403646	1.00[AMR][1000 genomes]
rs10410695	1.00[EUR][1000 genomes]
rs10418448	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs10427117	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234316	1.00[EUR][1000 genomes]
rs234319	1.00[EUR][1000 genomes]
rs234321	1.00[EUR][1000 genomes]
rs234322	1.00[EUR][1000 genomes]
rs234327	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28832070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs60631264	1.00[EUR][1000 genomes]
rs61424085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7250945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258111	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258718	1.00[AMR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930679	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv9726	chr19:40476453-40478048	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40476000-40477800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:40476000-40477800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:40476000-40477800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:40476000-40477800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:40476000-40477800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr19:40476000-40477800	Active TSS	Small Intestine	intestine
7	chr19:40476000-40477800	Active TSS	NHDF-Ad	bronchial
8	chr19:40476000-40477800	Active TSS	NHLF	lung
9	chr19:40476000-40478000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:40476000-40478000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:40476000-40478000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:40476000-40478000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:40476000-40478000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:40476000-40478000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:40476000-40478000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:40476000-40478000	Active TSS	Psoas Muscle	Psoas
17	chr19:40476000-40478000	Active TSS	HSMM	muscle
18	chr19:40476000-40478200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:40476000-40478200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:40476000-40478200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr19:40476000-40478200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:40476000-40478200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:40476000-40478200	Active TSS	Right Atrium	heart
24	chr19:40476200-40477800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr19:40476200-40477800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr19:40476200-40477800	Active TSS	K562	blood
27	chr19:40476200-40478000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr19:40476200-40478000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:40476200-40478000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:40476200-40478000	Active TSS	Left Ventricle	heart
31	chr19:40476200-40478000	Active TSS	Lung	lung
32	chr19:40476200-40478000	Active TSS	GM12878-XiMat	blood
33	chr19:40476200-40478200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr19:40476200-40478200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:40476200-40478200	Active TSS	HSMMtube	muscle
36	chr19:40476400-40477800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:40476400-40477800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:40476400-40477800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:40476400-40477800	Active TSS	Aorta	Aorta
40	chr19:40476400-40477800	Active TSS	A549	lung
41	chr19:40476400-40477800	Active TSS	HMEC	breast
42	chr19:40476400-40478000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr19:40476400-40478000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:40476400-40478000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr19:40476400-40478400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:40476600-40477800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:40476600-40477800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:40476600-40477800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:40476600-40477800	Active TSS	NH-A	brain
50	chr19:40476600-40478000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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