Variant report

Variant	rs73922833
Chromosome Location	chr19:19314118-19314119
allele	C/T
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	MXI1	chr19:19313560-19314482	IMR90	lung:	n/a	n/a
2	HEY1	chr19:19314041-19314322	HepG2	liver:	n/a	n/a
3	CREB1	chr19:19314003-19314455	A549	lung:	n/a	n/a
4	GABPA	chr19:19313617-19314544	SK-N-SH	brain:	n/a	chr19:19314232-19314241 chr19:19314232-19314243
5	TAF1	chr19:19313845-19314229	A549	lung:	n/a	n/a
6	MYC	chr19:19314048-19314446	MCF10A-Er-Src	breast:	n/a	chr19:19314219-19314226
7	MYC	chr19:19313441-19314475	K562	blood:	n/a	chr19:19314219-19314226
8	NFIC	chr19:19313795-19314253	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:19314087-19314254	HepG2	liver:	n/a	n/a
10	SMC3	chr19:19314014-19314392	GM12878	blood:	n/a	n/a
11	GABPA	chr19:19314018-19314429	A549	lung:	n/a	chr19:19314232-19314241 chr19:19314232-19314243
12	BHLHE40	chr19:19313966-19314466	K562	blood:	n/a	n/a
13	WRNIP1	chr19:19313742-19314384	GM12878	blood:	n/a	n/a
14	TCF12	chr19:19313790-19314518	ECC-1	luminal epithelium:	n/a	n/a
15	SP1	chr19:19314036-19314478	A549	lung:	n/a	chr19:19314294-19314304 chr19:19314294-19314303 chr19:19314293-19314305 chr19:19314293-19314305 chr19:19314295-19314304 chr19:19314294-19314303
16	POLR2A	chr19:19313296-19314332	U87	brain:	n/a	n/a
17	MYC	chr19:19314086-19314311	HUVEC	blood vessel:	n/a	chr19:19314219-19314226
18	POLR2A	chr19:19313574-19314340	A549	lung:	n/a	n/a
19	ZC3H11A	chr19:19313504-19314452	K562	blood:	n/a	n/a
20	POLR2A	chr19:19312877-19314458	K562	blood:	n/a	n/a
21	TAF1	chr19:19313927-19314339	GM12878	blood:	n/a	n/a
22	IRF1	chr19:19313950-19314464	K562	blood:	n/a	chr19:19314291-19314305
23	POLR2A	chr19:19313975-19314306	GM12891	blood:	n/a	n/a
24	TFAP2C	chr19:19313670-19314330	Hela-S3	cervix:	n/a	chr19:19314097-19314112
25	BCL3	chr19:19313612-19314504	A549	lung:	n/a	chr19:19314395-19314403
26	POLR2A	chr19:19313229-19314443	SK-N-SH	brain:	n/a	n/a
27	EGR1	chr19:19313955-19314400	K562	blood:	n/a	chr19:19314233-19314242
28	POLR2A	chr19:19313476-19314438	HEK293	kidney:	n/a	n/a
29	NRF1	chr19:19314060-19314439	Hela-S3	cervix:	n/a	chr19:19314232-19314241 chr19:19314231-19314242 chr19:19314232-19314243
30	RCOR1	chr19:19313912-19314594	K562	blood:	n/a	n/a
31	CEBPB	chr19:19313940-19314431	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr19:19313562-19314390	ProgFib	skin:	n/a	n/a
33	E2F6	chr19:19313784-19314467	H1-hESC	embryonic stem cell:	n/a	chr19:19314233-19314242 chr19:19314133-19314140 chr19:19314190-19314207 chr19:19314133-19314140 chr19:19314133-19314140
34	MYC	chr19:19313610-19314451	NB4	blood:	n/a	chr19:19314219-19314226
35	CBX3	chr19:19313486-19314740	K562	blood:	n/a	n/a
36	ZBTB7A	chr19:19314061-19314314	K562	blood:	n/a	chr19:19314298-19314305
37	MYC	chr19:19314072-19314423	K562	blood:	n/a	chr19:19314219-19314226
38	SRF	chr19:19313914-19314461	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr19:19312378-19314424	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr19:19313803-19314561	K562	blood:	n/a	chr19:19314232-19314241 chr19:19314232-19314243
41	TAF1	chr19:19313987-19314439	Hela-S3	cervix:	n/a	n/a
42	SIN3AK20	chr19:19313948-19314357	PFSK-1	brain:	n/a	n/a
43	ELF1	chr19:19313994-19314400	A549	lung:	n/a	n/a
44	E2F6	chr19:19313909-19314382	A549	lung:	n/a	chr19:19314233-19314242 chr19:19314133-19314140 chr19:19314190-19314207 chr19:19314133-19314140 chr19:19314133-19314140
45	ELF1	chr19:19313949-19314474	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr19:19313574-19314436	U87	brain:	n/a	n/a
47	IRF1	chr19:19313918-19314513	K562	blood:	n/a	chr19:19314291-19314305
48	ATF3	chr19:19314078-19314350	K562	blood:	n/a	n/a
49	E2F6	chr19:19313754-19314471	K562	blood:	n/a	chr19:19314233-19314242 chr19:19314133-19314140 chr19:19314190-19314207 chr19:19314133-19314140 chr19:19314133-19314140
50	MAX	chr19:19313746-19314544	A549	lung:	n/a	chr19:19314219-19314226

No.	Distal block	Cell Line	Cell type
1	chr19:19312779..19319489-chr19:19322201..19327588,8	K562	blood:
2	chr19:19302224..19305333-chr19:19312708..19315616,6	MCF-7	breast:
3	chr19:19300955..19305521-chr19:19311679..19315747,10	MCF-7	breast:
4	chr19:12902470..12904753-chr19:19312649..19315293,2	MCF-7	breast:
5	chr19:19307070..19310712-chr19:19311051..19314432,7	MCF-7	breast:
6	chr19:19312433..19314874-chr19:19432298..19433867,2	MCF-7	breast:
7	chr19:19307535..19311874-chr19:19311949..19315894,9	MCF-7	breast:
8	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:
9	chr19:19312772..19314396-chr19:19430027..19431719,3	MCF-7	breast:
10	chr19:19300744..19305499-chr19:19311426..19319217,10	K562	blood:

Variant related genes	Relation type
NR2C2AP	TF binding region
ENSG00000095066	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000130287	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10414307	0.83[AMR][1000 genomes]
rs55840140	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56800592	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57379914	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59210450	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60103595	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7256074	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73922820	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73922826	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73922828	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73922830	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922832	0.93[AFR][1000 genomes];1.00[AMR][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	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19313000-19314200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr19:19313000-19314200	Flanking Active TSS	HUVEC	blood vessel
3	chr19:19313000-19314600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:19313000-19314800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:19313200-19314200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:19313200-19314200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr19:19313200-19314200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:19313200-19314200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr19:19313200-19314200	Flanking Active TSS	Placenta	Placenta
10	chr19:19313200-19314200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr19:19313200-19314200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr19:19313200-19314200	Flanking Active TSS	NH-A	brain
13	chr19:19313200-19314200	Flanking Active TSS	Osteobl	bone
14	chr19:19313200-19314400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr19:19313200-19314400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:19313200-19314600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:19313200-19314600	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr19:19313400-19314200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr19:19313400-19314200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:19313400-19314200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr19:19313400-19314200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:19313400-19314200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr19:19313400-19314200	Enhancers	Fetal Heart	heart
24	chr19:19313400-19314200	Flanking Active TSS	Thymus	Thymus
25	chr19:19313400-19314400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr19:19313400-19314400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr19:19313400-19314400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr19:19313400-19314400	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr19:19313400-19314600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr19:19313400-19314600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr19:19313400-19314600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:19313400-19314600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:19313400-19314600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr19:19313400-19314600	Active TSS	Fetal Kidney	kidney
35	chr19:19313400-19314600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr19:19313400-19314600	Flanking Active TSS	Fetal Thymus	thymus
37	chr19:19313400-19314600	Active TSS	A549	lung
38	chr19:19313400-19314800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr19:19313600-19314200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr19:19313600-19314200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:19313600-19314400	Active TSS	Placenta Amnion	Placenta Amnion
42	chr19:19313600-19314400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr19:19313600-19314600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:19313600-19314600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr19:19313600-19314600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:19313600-19314600	Active TSS	Muscle Satellite Cultured Cells	--
47	chr19:19313600-19314600	Active TSS	Colon Smooth Muscle	Colon
48	chr19:19313600-19314600	Active TSS	HSMM	muscle
49	chr19:19313600-19314600	Active TSS	K562	blood
50	chr19:19313600-19314800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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