Variant report

Variant	rs55649527
Chromosome Location	chr19:37996482-37996483
allele	A/T
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:6)
LncRNA
region (count:1)
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	POLR2A	chr19:37996477-37998446	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr19:37996285-37998848	SK-N-SH	brain:	n/a	chr19:37996660-37996675
3	REST	chr19:37996457-37998634	H1-neurons	neurons:	n/a	chr19:37997421-37997434

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:37992616..37995600-chr19:37995736..37998672,5	MCF-7	breast:
2	chr19:37995858..37997705-chr19:38268751..38270937,2	MCF-7	breast:
3	chr19:37996176..37999146-chr19:38209174..38211289,2	MCF-7	breast:
4	chr19:37957751..37961901-chr19:37996099..37999727,6	MCF-7	breast:
5	chr19:37987631..37989871-chr19:37996181..37998149,2	MCF-7	breast:
6	chr19:37825178..37827025-chr19:37995882..37998065,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF569-5	chr19:37996481-37996942	ENSG00000266916.1

No data

Variant related genes	Relation type
ZNF793	TF binding region
ENSG00000267115	TF binding region
ENSG00000196437	Chromatin interaction
ENSG00000267422	Chromatin interaction
ENSG00000267115	Chromatin interaction
ENSG00000198182	Chromatin interaction
ENSG00000189144	Chromatin interaction
ENSG00000266916	Chromatin interaction
ENSG00000181666	Chromatin interaction
ENSG00000171827	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73631031	1.00[AMR][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	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37989000-37996800	Weak transcription	Left Ventricle	heart
2	chr19:37989000-37996800	Weak transcription	Ovary	ovary
3	chr19:37991200-37996800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr19:37992000-37996600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:37992200-37996600	Weak transcription	Aorta	Aorta
6	chr19:37993000-37996800	Weak transcription	Right Atrium	heart
7	chr19:37993200-37996800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:37993800-37996600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:37994000-37996600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:37994200-37996600	Weak transcription	NHEK	skin
11	chr19:37994200-37996800	Weak transcription	Psoas Muscle	Psoas
12	chr19:37994400-37996800	Weak transcription	Esophagus	oesophagus
13	chr19:37994800-37997000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:37995000-37996600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:37995200-37996800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:37995400-37996800	Weak transcription	Fetal Stomach	stomach
17	chr19:37995800-37996600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr19:37996000-37996600	Enhancers	Brain Hippocampus Middle	brain
19	chr19:37996000-37996800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr19:37996000-37999200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr19:37996000-37999200	ZNF genes & repeats	Liver	Liver
22	chr19:37996200-37996600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr19:37996200-37996600	Enhancers	Primary B cells from cord blood	blood
24	chr19:37996200-37996600	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr19:37996200-37996600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr19:37996200-37996600	Enhancers	Fetal Intestine Large	intestine
27	chr19:37996200-37996600	Enhancers	Fetal Lung	lung
28	chr19:37996200-37996600	Active TSS	Rectal Smooth Muscle	rectum
29	chr19:37996200-37996600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
30	chr19:37996200-37996800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:37996200-37996800	Enhancers	Primary B cells from peripheral blood	blood
32	chr19:37996200-37996800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr19:37996200-37996800	Enhancers	Fetal Muscle Leg	muscle
34	chr19:37996200-37996800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr19:37996200-37996800	Enhancers	Right Ventricle	heart
36	chr19:37996200-37997000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:37996200-37997200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr19:37996200-37998600	Active TSS	Colonic Mucosa	Colon
39	chr19:37996200-37999000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr19:37996400-37996600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:37996400-37996600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:37996400-37996600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:37996400-37996600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr19:37996400-37996600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr19:37996400-37996600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr19:37996400-37996600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr19:37996400-37996600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:37996400-37996600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:37996400-37996600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:37996400-37996600	Enhancers	Brain Angular Gyrus	brain

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