Variant report

Variant	rs7247142
Chromosome Location	chr19:19795330-19795331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19784981..19786975-chr19:19793453..19795583,2	K562	blood:

Variant related genes	Relation type
ENSG00000181896	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11670710	0.90[ASN][1000 genomes]
rs12974308	0.91[ASN][1000 genomes]
rs12976582	0.91[ASN][1000 genomes]
rs12980482	0.89[ASN][1000 genomes]
rs12982049	0.91[ASN][1000 genomes]
rs12982500	0.91[ASN][1000 genomes]
rs12983292	0.90[ASN][1000 genomes]
rs16996227	0.91[ASN][1000 genomes]
rs2288865	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28472726	0.92[AMR][1000 genomes]
rs34558847	0.90[ASN][1000 genomes]
rs35449009	0.91[ASN][1000 genomes]
rs35792080	0.92[ASN][1000 genomes]
rs35801717	0.91[ASN][1000 genomes]
rs4808209	0.91[ASN][1000 genomes]
rs4808979	0.81[ASN][1000 genomes]
rs4808981	0.81[ASN][1000 genomes]
rs7249670	0.90[ASN][1000 genomes]
rs7251924	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs74181147	0.91[ASN][1000 genomes]
rs74181148	0.91[ASN][1000 genomes]
rs74181149	0.91[ASN][1000 genomes]
rs74181150	0.91[ASN][1000 genomes]
rs74181151	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv519533	chr19:19789528-19831544	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19781200-19795800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr19:19782000-19795600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:19782000-19798200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:19790800-19797000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:19791000-19798400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:19791000-19799200	Weak transcription	Fetal Kidney	kidney
7	chr19:19791000-19802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:19791200-19816800	Weak transcription	Right Ventricle	heart
9	chr19:19791600-19810000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:19792000-19797200	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:19792400-19796000	Weak transcription	Fetal Brain Female	brain
12	chr19:19792400-19798000	Weak transcription	Left Ventricle	heart
13	chr19:19792400-19810000	Weak transcription	Ovary	ovary
14	chr19:19792600-19795600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:19792600-19795800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:19792600-19796400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:19792600-19798000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:19793400-19796200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:19793800-19799000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:19794000-19795400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:19794000-19795400	Strong transcription	Dnd41	blood
22	chr19:19794400-19795400	ZNF genes & repeats	Aorta	Aorta
23	chr19:19795000-19796000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:19795000-19796000	Weak transcription	Thymus	Thymus
25	chr19:19795000-19796400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:19795000-19798000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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