Variant report

Variant	rs73935677
Chromosome Location	chr19:44953196-44953197
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	POLR2A	chr19:44953187-44953265	ProgFib	skin:	n/a	n/a
2	MXI1	chr19:44951643-44953397	SK-N-SH	brain:	n/a	n/a
3	HCFC1	chr19:44952109-44953330	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44953043..44955061-chr19:44987589..44989582,2	MCF-7	breast:
2	chr19:44644669..44647100-chr19:44951741..44953337,2	K562	blood:

Variant related genes	Relation type
ENSG00000267188	TF binding region
ZNF229	TF binding region
ENSG00000263002	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10401549	1.00[EUR][1000 genomes]
rs10402815	1.00[EUR][1000 genomes]
rs10406819	1.00[EUR][1000 genomes]
rs10407028	1.00[EUR][1000 genomes]
rs10407887	1.00[EUR][1000 genomes]
rs10421647	1.00[EUR][1000 genomes]
rs10422909	1.00[EUR][1000 genomes]
rs16979134	1.00[EUR][1000 genomes]
rs16979139	1.00[EUR][1000 genomes]
rs28428189	1.00[EUR][1000 genomes]
rs3763954	0.86[ASN][1000 genomes]
rs4297799	1.00[EUR][1000 genomes]
rs7252890	1.00[EUR][1000 genomes]
rs73935674	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
3	chr19:44948600-44953200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
4	chr19:44949600-44954200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:44951200-44953200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:44951400-44953200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:44951400-44953400	Active TSS	NHDF-Ad	bronchial
8	chr19:44951600-44953200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:44951600-44953200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:44951800-44953200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:44951800-44953200	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr19:44951800-44953200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr19:44951800-44953200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:44951800-44953200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr19:44951800-44953200	Active TSS	Duodenum Mucosa	Duodenum
16	chr19:44951800-44953200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
17	chr19:44951800-44953200	Active TSS	NHLF	lung
18	chr19:44952000-44953200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:44952000-44953200	Active TSS	Brain Hippocampus Middle	brain
20	chr19:44952000-44953200	Active TSS	Fetal Kidney	kidney
21	chr19:44952000-44953400	ZNF genes & repeats	GM12878-XiMat	blood
22	chr19:44952000-44953600	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr19:44952200-44953200	Active TSS	Primary B cells from cord blood	blood
24	chr19:44952200-44953200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr19:44952200-44953200	Active TSS	Brain Cingulate Gyrus	brain
26	chr19:44952200-44953200	Active TSS	Fetal Brain Female	brain
27	chr19:44952200-44953200	Active TSS	Fetal Heart	heart
28	chr19:44952200-44953200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr19:44952200-44953400	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr19:44952400-44953200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:44952400-44953200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:44952400-44953200	Active TSS	Brain Anterior Caudate	brain
33	chr19:44952400-44953200	Active TSS	Fetal Brain Male	brain
34	chr19:44952400-44953200	Active TSS	Fetal Muscle Leg	muscle
35	chr19:44952400-44953200	Active TSS	K562	blood
36	chr19:44952400-44953400	Active TSS	Adipose Nuclei	Adipose
37	chr19:44952400-44953400	Active TSS	Stomach Smooth Muscle	stomach
38	chr19:44952400-44953400	Active TSS	A549	lung
39	chr19:44952600-44953200	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr19:44952600-44953400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr19:44952800-44953200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr19:44952800-44953200	Flanking Active TSS	NHEK	skin
43	chr19:44952800-44953400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr19:44952800-44953400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
45	chr19:44952800-44953400	Active TSS	Right Atrium	heart
46	chr19:44953000-44953200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:44953000-44953200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr19:44953000-44953200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr19:44953000-44953200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:44953000-44953200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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