Variant report

Variant	rs34016205
Chromosome Location	chr19:52799575-52799576
allele	A/G
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	MXI1	chr19:52799569-52801627	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:52771242..52774496-chr19:52796154..52801198,5	MCF-7	breast:
2	chr19:52771362..52774263-chr19:52797982..52800693,2	K562	blood:
3	chr19:52799531..52802059-chr19:52803187..52805101,2	K562	blood:
4	chr19:52772712..52774263-chr19:52799047..52800693,2	K562	blood:

Variant related genes	Relation type
ZNF480	TF binding region
ENSG00000198464	Chromatin interaction
ENSG00000196214	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10402605	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10403158	0.83[ASN][1000 genomes]
rs10404457	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10414779	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28412317	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35659666	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4801911	0.83[ASN][1000 genomes]
rs4802919	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67621412	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71358869	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv912299	chr19:52795985-52832830	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52774200-52799600	Weak transcription	Hela-S3	cervix
2	chr19:52780400-52800000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:52788400-52799800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:52788800-52800000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:52791800-52799600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:52792200-52800400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:52794400-52799600	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:52794400-52799600	Weak transcription	Esophagus	oesophagus
9	chr19:52794400-52799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr19:52794400-52799600	Weak transcription	Stomach Mucosa	stomach
11	chr19:52794400-52799600	Weak transcription	HMEC	breast
12	chr19:52794400-52799600	Weak transcription	NH-A	brain
13	chr19:52794600-52799600	Weak transcription	Primary T cells from cord blood	blood
14	chr19:52794600-52799600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:52794600-52799600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:52794600-52799600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:52794600-52799600	Weak transcription	Brain Anterior Caudate	brain
18	chr19:52794600-52799600	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:52794600-52799600	Weak transcription	Brain Substantia Nigra	brain
20	chr19:52794600-52799600	Weak transcription	Fetal Heart	heart
21	chr19:52794600-52799600	Weak transcription	Fetal Kidney	kidney
22	chr19:52794600-52799600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:52794600-52799600	Weak transcription	HepG2	liver
24	chr19:52794600-52799600	Weak transcription	HUVEC	blood vessel
25	chr19:52794600-52799600	Weak transcription	NHDF-Ad	bronchial
26	chr19:52794600-52799600	Weak transcription	NHEK	skin
27	chr19:52794600-52799800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr19:52794600-52799800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:52794600-52799800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:52794800-52799600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:52794800-52799600	Weak transcription	Primary B cells from cord blood	blood
32	chr19:52794800-52799600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr19:52794800-52799600	Weak transcription	Fetal Brain Male	brain
34	chr19:52794800-52799600	Weak transcription	Fetal Thymus	thymus
35	chr19:52794800-52799600	Weak transcription	Gastric	stomach
36	chr19:52794800-52799600	Weak transcription	Left Ventricle	heart
37	chr19:52794800-52799600	Weak transcription	Osteobl	bone
38	chr19:52795000-52799600	Weak transcription	Brain Angular Gyrus	brain
39	chr19:52795000-52799600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr19:52795200-52799600	Weak transcription	Fetal Lung	lung
41	chr19:52795200-52799600	Weak transcription	Right Ventricle	heart
42	chr19:52795400-52799600	Weak transcription	Fetal Brain Female	brain
43	chr19:52795400-52799600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr19:52795600-52799600	Weak transcription	Fetal Muscle Leg	muscle
45	chr19:52795800-52799600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:52795800-52799600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:52795800-52799600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:52795800-52799600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:52795800-52799600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:52795800-52799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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