Variant report

Variant	rs1055148
Chromosome Location	chr19:39998982-39998983
allele	A/C
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39967682..39973021-chr19:39995906..39999826,6	K562	blood:
2	chr19:39996434..39999971-chr19:40007133..40012367,8	K562	blood:
3	chr19:39934123..39936292-chr19:39998837..40000591,2	K562	blood:
4	chr19:39922964..39925489-chr19:39998609..40000385,2	K562	blood:
5	chr19:39988036..39992269-chr19:39996706..39999798,3	K562	blood:
6	chr19:39992886..39995682-chr19:39996281..39999154,5	K562	blood:
7	chr19:39967682..39970182-chr19:39997915..39999826,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EID2B-1	chr19:39998899-40000234	ucscGeneNc_uc002nwj_2

No data

Variant related genes	Relation type
ENSG00000196235	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000105197	Chromatin interaction
ENSG00000090932	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv911691	chr19:39979966-40029386	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv3374976	chr19:39998161-40023263	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39997200-39999000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:39997400-39999000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:39997600-39999000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:39997600-39999000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr19:39997600-39999000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:39997600-39999000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:39998200-39999000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:39998400-39999000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:39998400-39999000	Flanking Active TSS	A549	lung
10	chr19:39998400-40005400	Weak transcription	Right Atrium	heart
11	chr19:39998600-39999000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:39998600-39999200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
13	chr19:39998800-39999000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr19:39998800-39999000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:39998800-39999000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr19:39998800-39999000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:39998800-39999000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:39998800-39999000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr19:39998800-39999000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:39998800-39999000	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr19:39998800-39999000	Enhancers	GM12878-XiMat	blood
22	chr19:39998800-39999000	Active TSS	HMEC	breast
23	chr19:39998800-39999000	Enhancers	K562	blood
24	chr19:39998800-39999400	Enhancers	Fetal Brain Male	brain

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