Variant report

Variant	rs73036801
Chromosome Location	chr19:44440134-44440135
allele	C/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	GABPA	chr19:44438817-44440161	A549	lung:	n/a	chr19:44439497-44439506
2	SREBP1	chr19:44438244-44440460	GM12878	blood:	n/a	n/a
3	GATA1	chr19:44439843-44440696	PBDE	blood:	n/a	chr19:44440390-44440401
4	HCFC1	chr19:44438175-44440337	Hela-S3	cervix:	n/a	n/a
5	GABPA	chr19:44438610-44440292	MCF-7	breast:	n/a	chr19:44439497-44439506

No.	Distal block	Cell Line	Cell type
1	chr19:44439254..44441098-chr19:44452141..44456291,4	K562	blood:
2	chr19:44440093..44441074-chr2:45554854..45555670,2	MCF-7	breast:
3	chr19:44405165..44406844-chr19:44438913..44440753,2	K562	blood:
4	chr19:44330249..44332710-chr19:44437495..44440338,2	MCF-7	breast:
5	chr19:44438985..44440520-chr19:44510451..44513064,2	MCF-7	breast:

Variant related genes	Relation type
ZNF45	TF binding region
ENSG00000176222	Chromatin interaction
ENSG00000167637	Chromatin interaction
ENSG00000159905	Chromatin interaction
ENSG00000267058	Chromatin interaction
ENSG00000159871	Chromatin interaction
ENSG00000267191	Chromatin interaction
ENSG00000159882	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10164273	0.85[EUR][1000 genomes]
rs10164282	0.86[EUR][1000 genomes]
rs11666551	0.89[EUR][1000 genomes]
rs11668687	0.87[EUR][1000 genomes]
rs11669702	0.87[EUR][1000 genomes]
rs11670342	0.89[EUR][1000 genomes]
rs11671384	0.87[EUR][1000 genomes]
rs11672243	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11673170	0.87[EUR][1000 genomes]
rs12185486	0.87[EUR][1000 genomes]
rs2284242	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2284243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2356537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs366111	0.87[EUR][1000 genomes]
rs55738725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61734609	0.89[EUR][1000 genomes]
rs72480789	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73036788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036792	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73038508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73038515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73038526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73038529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038560	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73038602	0.89[EUR][1000 genomes]
rs73050193	0.86[EUR][1000 genomes]
rs73050195	0.87[EUR][1000 genomes]
rs73051806	0.89[EUR][1000 genomes]
rs73051810	0.89[EUR][1000 genomes]
rs73051815	0.89[EUR][1000 genomes]
rs73051825	0.89[EUR][1000 genomes]
rs73051828	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44438200-44440200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr19:44438200-44440200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:44438200-44440200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:44438200-44440200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:44438200-44440200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr19:44438200-44440200	Active TSS	Psoas Muscle	Psoas
7	chr19:44438200-44440600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:44438400-44440200	Active TSS	Fetal Intestine Small	intestine
9	chr19:44438600-44440200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr19:44438600-44440600	Active TSS	Thymus	Thymus
11	chr19:44438800-44440200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:44438800-44440200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr19:44438800-44440200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:44438800-44440200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:44438800-44440200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:44438800-44440200	Active TSS	Colonic Mucosa	Colon
17	chr19:44438800-44440200	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr19:44438800-44440200	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr19:44438800-44440200	Active TSS	HepG2	liver
20	chr19:44438800-44440400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr19:44439000-44440200	Active TSS	Brain Germinal Matrix	brain
22	chr19:44439600-44440200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:44439600-44440200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:44439600-44440200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr19:44439600-44440200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr19:44439600-44440200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:44439600-44440200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:44439600-44440200	Flanking Active TSS	Dnd41	blood
29	chr19:44439800-44440200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:44439800-44440200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr19:44439800-44440200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:44439800-44440200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:44439800-44440200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr19:44439800-44440200	Flanking Active TSS	Liver	Liver
35	chr19:44439800-44440200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr19:44439800-44440200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr19:44439800-44440200	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr19:44439800-44440200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr19:44439800-44440200	ZNF genes & repeats	K562	blood
40	chr19:44439800-44440200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr19:44439800-44441000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:44440000-44440200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:44440000-44440200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:44440000-44440200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr19:44440000-44440200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr19:44440000-44440200	Enhancers	Primary T cells from cord blood	blood
47	chr19:44440000-44440200	Active TSS	Primary hematopoietic stem cells	blood
48	chr19:44440000-44440200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr19:44440000-44440200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr19:44440000-44440200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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