Variant report

Variant	rs35359254
Chromosome Location	chr19:18901618-18901619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr19:18901126-18902680	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr19:18900279-18901760	ECC-1	luminal epithelium:	n/a	n/a
3	SUZ12	chr19:18900635-18902785	NT2-D1	testis:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18554334..18556590-chr19:18899437..18901664,2	MCF-7	breast:
2	chr19:18895143..18898266-chr19:18900658..18903454,3	K562	blood:
3	chr19:18899550..18903298-chr19:18943373..18946094,3	K562	blood:
4	chr19:18111051..18113272-chr19:18901611..18904539,2	MCF-7	breast:
5	chr19:18895540..18898412-chr19:18899953..18903266,3	MCF-7	breast:

No data

Variant related genes	Relation type
COMP	TF binding region
ENSG00000105664	Chromatin interaction
ENSG00000105643	Chromatin interaction
ENSG00000256989	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000005007	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs36070283	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv911295	chr19:18874483-18902592	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv911296	chr19:18874483-18915988	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35359254	UBA52	cis	brain	BrainEAC

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18895600-18902400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr19:18898000-18901800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:18898200-18902000	Enhancers	Gastric	stomach
4	chr19:18898200-18902200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr19:18898200-18902200	Enhancers	Pancreas	Pancrea
6	chr19:18898600-18901800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr19:18898800-18902000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:18899200-18902000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:18899200-18902200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr19:18899200-18902400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:18899400-18901800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:18899400-18902000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:18899400-18902000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:18899400-18902000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
15	chr19:18899600-18902000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr19:18899600-18902200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr19:18899600-18902200	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr19:18899600-18902400	Bivalent Enhancer	Placenta	Placenta
19	chr19:18899800-18901800	Bivalent Enhancer	GM12878-XiMat	blood
20	chr19:18899800-18902000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr19:18899800-18902000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr19:18900000-18901800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:18900000-18902200	Bivalent Enhancer	Brain Germinal Matrix	brain
24	chr19:18900200-18901800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr19:18900400-18902200	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr19:18900400-18902600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:18900600-18901800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:18900600-18901800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
29	chr19:18900600-18902000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:18900600-18902000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:18900600-18902000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr19:18900600-18902200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
33	chr19:18900600-18902400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr19:18900600-18902400	Bivalent/Poised TSS	Osteobl	bone
35	chr19:18900800-18901800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
36	chr19:18900800-18902000	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr19:18900800-18902000	Bivalent/Poised TSS	HSMMtube	muscle
38	chr19:18900800-18902200	Bivalent Enhancer	Esophagus	oesophagus
39	chr19:18901000-18901800	Bivalent Enhancer	Spleen	Spleen
40	chr19:18901000-18901800	Bivalent Enhancer	NH-A	brain
41	chr19:18901000-18902200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:18901000-18902200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:18901000-18902200	Bivalent Enhancer	Brain Anterior Caudate	brain
44	chr19:18901000-18902200	Bivalent Enhancer	Ovary	ovary
45	chr19:18901000-18902200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
46	chr19:18901200-18901800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr19:18901200-18901800	Bivalent Enhancer	NHEK	skin
48	chr19:18901200-18902000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr19:18901200-18902000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr19:18901200-18902000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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