Variant report

Variant	rs556529230
Chromosome Location	chr19:44765221-44765222
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr19:44765152-44765334	HepG2	liver:	n/a	n/a
2	ZNF263	chr19:44763798-44765474	HEK293-T-REx	kidney:	n/a	n/a
3	MXI1	chr19:44763647-44765418	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr19:44765155-44765418	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:44764453..44767160-chr19:44768719..44770239,2	K562	blood:
2	chr19:44763153..44765827-chr19:44767005..44769957,2	MCF-7	breast:
3	chr19:44763689..44765733-chr19:44807177..44810075,2	MCF-7	breast:
4	chr19:44764212..44765954-chr19:44776988..44779803,2	MCF-7	breast:
5	chr19:44763163..44765702-chr19:44978103..44979674,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF233	TF binding region
ENSG00000267242	Chromatin interaction
ENSG00000159915	Chromatin interaction
ENSG00000159917	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	nsv521923	chr19:44764064-44769974	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44729800-44768600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:44730000-44775600	ZNF genes & repeats	Liver	Liver
3	chr19:44763400-44765400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:44763800-44765400	Active TSS	Brain Anterior Caudate	brain
5	chr19:44763800-44765400	Active TSS	Rectal Smooth Muscle	rectum
6	chr19:44764400-44765400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:44764600-44765400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:44764600-44765400	Enhancers	Hela-S3	cervix
9	chr19:44764600-44766600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:44764600-44770000	Weak transcription	Fetal Kidney	kidney
11	chr19:44764600-44771000	Weak transcription	Psoas Muscle	Psoas
12	chr19:44764600-44778200	Weak transcription	HSMMtube	muscle
13	chr19:44764800-44765400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr19:44764800-44765400	Enhancers	HepG2	liver
15	chr19:44764800-44769800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr19:44764800-44770000	Weak transcription	Primary B cells from cord blood	blood
17	chr19:44764800-44770000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:44764800-44771200	Weak transcription	Thymus	Thymus
19	chr19:44764800-44777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:44764800-44777600	Weak transcription	Placenta	Placenta
21	chr19:44764800-44782000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:44765000-44765400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:44765000-44765400	Enhancers	Brain Angular Gyrus	brain
24	chr19:44765000-44765400	Enhancers	Fetal Intestine Large	intestine
25	chr19:44765000-44765400	Enhancers	Left Ventricle	heart
26	chr19:44765000-44765400	Enhancers	NHDF-Ad	bronchial
27	chr19:44765000-44769200	Weak transcription	Brain Germinal Matrix	brain
28	chr19:44765000-44770000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:44765000-44770000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:44765000-44770200	Weak transcription	Fetal Intestine Small	intestine
31	chr19:44765000-44770200	Weak transcription	Fetal Stomach	stomach
32	chr19:44765000-44770200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:44765000-44770400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr19:44765000-44770400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr19:44765000-44770800	Weak transcription	Fetal Muscle Leg	muscle
36	chr19:44765000-44771000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:44765000-44771200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:44765000-44772400	Weak transcription	A549	lung
39	chr19:44765000-44772600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:44765000-44773400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr19:44765000-44774800	Weak transcription	Fetal Lung	lung
42	chr19:44765000-44774800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:44765000-44775400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:44765000-44777400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr19:44765000-44777400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:44765000-44777400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr19:44765000-44777400	Weak transcription	Fetal Heart	heart
48	chr19:44765000-44777600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:44765000-44777600	Weak transcription	Right Ventricle	heart
50	chr19:44765000-44778000	Weak transcription	Fetal Brain Male	brain

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