Variant report

Variant	rs73578286
Chromosome Location	chr19:53073042-53073043
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:53073002-53075041	GM12878	blood:	n/a	n/a
2	JUND	chr19:53072970-53073125	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr19:53073031-53073179	HepG2	liver:	n/a	n/a
4	FOSL2	chr19:53072997-53073704	HepG2	liver:	n/a	n/a
5	MXI1	chr19:53072742-53074375	SK-N-SH	brain:	n/a	chr19:53073030-53073039
6	POLR2A	chr19:53072882-53074076	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:53073011-53073962	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:53072963-53074749	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:53073007-53074057	SK-N-SH	brain:	n/a	n/a
10	EGR1	chr19:53072878-53073183	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:53072986-53074259	SK-N-MC	brain:	n/a	n/a
12	SP1	chr19:53072743-53073770	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:53073008-53074119	HUVEC	blood vessel:	n/a	n/a
14	REST	chr19:53072718-53074231	H1-neurons	neurons:	n/a	chr19:53073975-53073995 chr19:53073975-53073995 chr19:53073976-53073994 chr19:53073983-53073993
15	POLR2A	chr19:53072663-53074370	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr19:53073031-53073869	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr19:53072915-53073793	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF143	chr19:53072989-53074053	H1-hESC	embryonic stem cell:	n/a	n/a
19	POU2F2	chr19:53072922-53074110	GM12878	blood:	n/a	chr19:53073252-53073265
20	TBP	chr19:53073009-53073966	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr19:53072785-53074305	IMR90	lung:	n/a	chr19:53073030-53073039
22	POLR2A	chr19:53072850-53074152	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:53072878-53074218	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr19:53072980-53074233	MCF-7	breast:	n/a	n/a
25	TEAD4	chr19:53072804-53073304	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chr19:53072864-53074094	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr19:53072828-53073156	H1-hESC	embryonic stem cell:	n/a	n/a
28	NRF1	chr19:53072910-53074047	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr19:53072944-53074098	GM12878	blood:	n/a	n/a
30	SIN3A	chr19:53072931-53074230	H1-hESC	embryonic stem cell:	n/a	chr19:53073984-53073993
31	TAF1	chr19:53072882-53073913	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr19:53072940-53073090	HCPEpiC	choroid plexus:	n/a	n/a
33	SETDB1	chr19:53073041-53073904	U2OS	brain:	n/a	n/a
34	HEY1	chr19:53073018-53073757	HepG2	liver:	n/a	chr19:53073068-53073077
35	RAD21	chr19:53072915-53073622	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr19:53072929-53073144	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr19:53073035-53074703	GM12878	blood:	n/a	n/a
38	KAP1	chr19:53073010-53073741	U2OS	brain:	n/a	n/a
39	JUND	chr19:53072902-53074144	H1-hESC	embryonic stem cell:	n/a	n/a
40	E2F6	chr19:53072792-53073578	H1-hESC	embryonic stem cell:	n/a	n/a
41	E2F6	chr19:53072900-53073068	K562	blood:	n/a	n/a
42	TEAD4	chr19:53072804-53073260	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:53073019-53073757	HepG2	liver:	n/a	n/a
44	E2F6	chr19:53072871-53073116	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53029127..53032188-chr19:53072538..53075129,3	K562	blood:
2	chr19:53029450..53032188-chr19:53072538..53074123,2	K562	blood:

No data

Variant related genes	Relation type
ZNF701	TF binding region
ENSG00000198482	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12979584	0.86[ASN][1000 genomes]
rs2029316	0.86[ASN][1000 genomes]
rs2061652	1.00[ASN][1000 genomes]
rs2447422	1.00[ASN][1000 genomes]
rs2931759	1.00[ASN][1000 genomes]
rs2931760	1.00[ASN][1000 genomes]
rs34066730	0.86[ASN][1000 genomes]
rs34603606	0.86[ASN][1000 genomes]
rs34866464	0.86[ASN][1000 genomes]
rs35068231	0.86[ASN][1000 genomes]
rs35990292	0.86[ASN][1000 genomes]
rs35993483	0.86[ASN][1000 genomes]
rs4401146	0.86[ASN][1000 genomes]
rs55930753	1.00[ASN][1000 genomes]
rs60617297	1.00[ASN][1000 genomes]
rs61746334	0.86[ASN][1000 genomes]
rs73578289	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53051600-53073200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:53062000-53077800	ZNF genes & repeats	Liver	Liver
3	chr19:53071800-53073400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:53072400-53074000	Active TSS	Osteobl	bone
5	chr19:53072400-53074200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr19:53072600-53074000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr19:53072600-53074000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:53072600-53074000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:53072600-53074400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:53072600-53074600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:53072600-53074600	Active TSS	Fetal Brain Female	brain
12	chr19:53072800-53073200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:53072800-53073200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr19:53072800-53073200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr19:53072800-53073200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr19:53072800-53073200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:53072800-53073200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr19:53072800-53073200	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr19:53072800-53073200	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr19:53072800-53073200	Flanking Active TSS	Placenta	Placenta
21	chr19:53072800-53073400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr19:53072800-53073400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:53072800-53073400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr19:53072800-53073400	Flanking Active TSS	Dnd41	blood
25	chr19:53072800-53073400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:53072800-53073600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr19:53072800-53073600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:53072800-53073600	Active TSS	Adipose Nuclei	Adipose
29	chr19:53072800-53073800	Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr19:53072800-53073800	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr19:53072800-53073800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:53072800-53073800	Active TSS	Duodenum Mucosa	Duodenum
33	chr19:53072800-53073800	Active TSS	Fetal Lung	lung
34	chr19:53072800-53073800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr19:53072800-53073800	Active TSS	Right Ventricle	heart
36	chr19:53072800-53073800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr19:53072800-53073800	Active TSS	NH-A	brain
38	chr19:53072800-53074000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:53072800-53074000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr19:53072800-53074000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:53072800-53074000	Active TSS	Brain Angular Gyrus	brain
42	chr19:53072800-53074000	Active TSS	Brain Hippocampus Middle	brain
43	chr19:53072800-53074000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr19:53072800-53074000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:53072800-53074000	Active TSS	Colon Smooth Muscle	Colon
46	chr19:53072800-53074000	Active TSS	Fetal Brain Male	brain
47	chr19:53072800-53074000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr19:53072800-53074000	Active TSS	Rectal Smooth Muscle	rectum
49	chr19:53072800-53074000	Active TSS	Right Atrium	heart
50	chr19:53072800-53074000	Active TSS	HSMM	muscle

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