Variant report

Variant	rs737195
Chromosome Location	chr19:19886197-19886198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SREBP1	chr19:19886186-19888557	GM12878	blood:	n/a	chr19:19887863-19887877
2	MXI1	chr19:19886113-19889151	SK-N-SH	brain:	n/a	chr19:19886836-19886845

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19772600..19774395-chr19:19886060..19888388,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF506-1	chr19:19884687-19887232	ENSG00000266904.1

Variant related genes	Relation type
ENSG00000267419	TF binding region
ENSG00000105726	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11085277	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12327770	0.99[ASN][1000 genomes]
rs16996320	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808983	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4808992	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808993	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7260393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72620573	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72620574	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72620575	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv911312	chr19:19861682-19917662	Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv458375	chr19:19863014-19949209	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv578798	chr19:19863014-19949209	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv911313	chr19:19866371-19936078	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription 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	15 gene(s)	inside rSNPs	diseases
7	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs737195	ZNF253	Cis_1M	lymphoblastoid	RTeQTL
rs737195	ZNF253	cis	Nerve Tibial	GTEx
rs737195	ZNF506	Cis_1M	lymphoblastoid	RTeQTL
rs737195	ZNF506	cis	Heart Left Ventricle	GTEx
rs737195	ZNF682	cis	Muscle Skeletal	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19862800-19886400	Weak transcription	Pancreas	Pancrea
2	chr19:19865200-19886400	Weak transcription	Right Ventricle	heart
3	chr19:19869400-19886400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:19879400-19886200	Weak transcription	Brain Substantia Nigra	brain
5	chr19:19881200-19886400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr19:19881400-19886400	Weak transcription	NH-A	brain
7	chr19:19883400-19886400	Weak transcription	NHDF-Ad	bronchial
8	chr19:19884800-19886200	Enhancers	Dnd41	blood
9	chr19:19885200-19886200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:19885200-19886200	Enhancers	HepG2	liver
11	chr19:19885200-19886200	Enhancers	K562	blood
12	chr19:19885200-19886600	Enhancers	Primary hematopoietic stem cells	blood
13	chr19:19885400-19886200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:19885400-19886200	Enhancers	Duodenum Mucosa	Duodenum
15	chr19:19885400-19886200	Enhancers	GM12878-XiMat	blood
16	chr19:19885400-19886400	Enhancers	Primary T cells from cord blood	blood
17	chr19:19885400-19886400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:19885400-19886400	Weak transcription	Brain Angular Gyrus	brain
19	chr19:19885400-19886400	Enhancers	Fetal Intestine Small	intestine
20	chr19:19885600-19886400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:19885600-19886400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:19885600-19886800	Enhancers	Spleen	Spleen
23	chr19:19885800-19886200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr19:19885800-19886200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:19885800-19886200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:19885800-19886200	Weak transcription	Fetal Intestine Large	intestine
27	chr19:19885800-19886200	Weak transcription	Thymus	Thymus
28	chr19:19885800-19886600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr19:19886000-19886200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:19886000-19886200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:19886000-19886200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr19:19886000-19886200	Enhancers	Brain Anterior Caudate	brain
33	chr19:19886000-19886200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr19:19886000-19886200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:19886000-19886400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr19:19886000-19886400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:19886000-19886400	Enhancers	Liver	Liver
38	chr19:19886000-19886400	Enhancers	Brain Hippocampus Middle	brain
39	chr19:19886000-19886600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:19886000-19888000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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