Variant report

Variant	rs11083731
Chromosome Location	chr19:44508514-44508515
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SREBP1	chr19:44505885-44508675	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44507958..44509681-chr19:44512685..44515018,2	K562	blood:
2	chr19:44506046..44508713-chr19:44597601..44599146,2	MCF-7	breast:
3	chr19:44506929..44508722-chr19:44508906..44512991,6	K562	blood:
4	chr19:44506934..44508722-chr19:44508906..44511281,4	K562	blood:
5	chr19:44505664..44508645-chr19:44527908..44530282,2	MCF-7	breast:
6	chr19:44507222..44510776-chr19:44517439..44520079,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF155-2	chr19:44507111-44508904	NONHSAT066652

No data

Variant related genes	Relation type
ZNF230	TF binding region
ENSG00000266921	TF binding region
ENSG00000267022	Chromatin interaction
ENSG00000267144	Chromatin interaction
ENSG00000159882	Chromatin interaction
ENSG00000267680	Chromatin interaction
ENSG00000159885	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11880006	1.00[EUR][1000 genomes]
rs11880958	1.00[EUR][1000 genomes]
rs55784929	1.00[EUR][1000 genomes]
rs56376181	1.00[EUR][1000 genomes]
rs56985355	1.00[EUR][1000 genomes]
rs59735455	1.00[EUR][1000 genomes]
rs60620675	1.00[EUR][1000 genomes]
rs61182068	1.00[EUR][1000 genomes]
rs7260493	1.00[EUR][1000 genomes]
rs73554150	1.00[EUR][1000 genomes]
rs73554151	1.00[EUR][1000 genomes]
rs73554153	1.00[EUR][1000 genomes]
rs73554156	1.00[EUR][1000 genomes]
rs73554158	1.00[EUR][1000 genomes]
rs73554172	1.00[EUR][1000 genomes]
rs73554176	1.00[EUR][1000 genomes]
rs73554181	1.00[EUR][1000 genomes]
rs73554183	1.00[EUR][1000 genomes]
rs73554199	1.00[EUR][1000 genomes]
rs73556203	1.00[EUR][1000 genomes]
rs73558261	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44508000-44508600	Flanking Active TSS	Dnd41	blood
2	chr19:44508000-44510800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr19:44508000-44511000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:44508000-44511600	Weak transcription	Pancreas	Pancrea
5	chr19:44508200-44509400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:44508200-44510200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:44508200-44510800	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:44508200-44510800	Weak transcription	Brain Substantia Nigra	brain
9	chr19:44508200-44510800	Weak transcription	Colon Smooth Muscle	Colon
10	chr19:44508200-44511000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:44508200-44511000	Weak transcription	Aorta	Aorta
12	chr19:44508200-44511000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:44508200-44511000	Weak transcription	Esophagus	oesophagus
14	chr19:44508200-44511000	Weak transcription	Gastric	stomach
15	chr19:44508200-44511000	Weak transcription	Left Ventricle	heart
16	chr19:44508200-44511000	Weak transcription	Ovary	ovary
17	chr19:44508200-44511200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:44508200-44511200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:44508200-44511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:44508200-44511400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:44508200-44511600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:44508200-44511600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:44508200-44511600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:44508200-44511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:44508200-44511800	Weak transcription	Stomach Mucosa	stomach
26	chr19:44508200-44512000	Weak transcription	HSMM	muscle
27	chr19:44508200-44512800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:44508400-44508600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:44508400-44508600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:44508400-44508600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr19:44508400-44508600	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:44508400-44508600	Enhancers	NHDF-Ad	bronchial
33	chr19:44508400-44509200	Weak transcription	Liver	Liver
34	chr19:44508400-44509400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:44508400-44509400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr19:44508400-44509400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr19:44508400-44509400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:44508400-44509800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr19:44508400-44509800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:44508400-44510000	Weak transcription	Primary T cells from cord blood	blood
41	chr19:44508400-44510000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr19:44508400-44510000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr19:44508400-44510000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr19:44508400-44510000	Weak transcription	Adipose Nuclei	Adipose
45	chr19:44508400-44510200	Weak transcription	Primary B cells from cord blood	blood
46	chr19:44508400-44510200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:44508400-44510200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr19:44508400-44510200	Weak transcription	GM12878-XiMat	blood
49	chr19:44508400-44510400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:44508400-44510400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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