Variant report

Variant	rs73004967
Chromosome Location	chr19:19717056-19717057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr19:19716777-19717228	MCF-7	breast:	n/a	n/a
2	FOSL2	chr19:19716674-19717141	A549	lung:	n/a	n/a
3	RAD21	chr19:19716750-19717291	Hela-S3	cervix:	n/a	n/a
4	STAT3	chr19:19716764-19717162	Hela-S3	cervix:	n/a	n/a
5	FOS	chr19:19716736-19717144	MCF10A-Er-Src	breast:	n/a	n/a
6	USF2	chr19:19716869-19717165	Hela-S3	cervix:	n/a	n/a
7	FOSL1	chr19:19716601-19717359	HCT-116	colon:	n/a	chr19:19716606-19716615
8	ELF1	chr19:19716698-19717279	MCF-7	breast:	n/a	n/a
9	SP1	chr19:19716550-19717364	HCT-116	colon:	n/a	n/a
10	MAX	chr19:19716703-19717473	HCT-116	colon:	n/a	n/a
11	GATA3	chr19:19716718-19717381	MCF-7	breast:	n/a	n/a
12	JUND	chr19:19716713-19717378	HCT-116	colon:	n/a	n/a
13	FOS	chr19:19716712-19717223	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr19:19716739-19717128	MCF10A-Er-Src	breast:	n/a	n/a
15	SP1	chr19:19716609-19717431	HCT-116	colon:	n/a	n/a
16	TBP	chr19:19716731-19717127	Hela-S3	cervix:	n/a	n/a
17	JUND	chr19:19716718-19717192	Hela-S3	cervix:	n/a	n/a
18	MYC	chr19:19716793-19717356	MCF10A-Er-Src	breast:	n/a	n/a
19	EBF1	chr19:19716886-19717208	GM12878	blood:	n/a	n/a
20	RUNX3	chr19:19716713-19717127	GM12878	blood:	n/a	n/a
21	JUN	chr19:19716652-19717289	Hela-S3	cervix:	n/a	n/a
22	MYC	chr19:19717024-19717060	Hela-S3	cervix:	n/a	n/a
23	ELF1	chr19:19716801-19717292	K562	blood:	n/a	n/a
24	CEBPB	chr19:19716729-19717172	Hela-S3	cervix:	n/a	n/a
25	NR2F2	chr19:19716680-19717270	MCF-7	breast:	n/a	n/a
26	FOSL2	chr19:19716700-19717232	MCF-7	breast:	n/a	n/a
27	GATA3	chr19:19716750-19717454	MCF-7	breast:	n/a	n/a
28	NR2F2	chr19:19716687-19717314	MCF-7	breast:	n/a	n/a
29	ELF1	chr19:19716783-19717410	MCF-7	breast:	n/a	n/a
30	YY1	chr19:19716825-19717122	HCT-116	colon:	n/a	n/a
31	EP300	chr19:19716925-19717209	GM12878	blood:	n/a	n/a
32	SMC3	chr19:19716735-19717255	Hela-S3	cervix:	n/a	n/a
33	MAX	chr19:19716765-19717366	MCF-7	breast:	n/a	n/a
34	GATA2	chr19:19716906-19717136	K562	blood:	n/a	n/a
35	STAT3	chr19:19716691-19717146	MCF10A-Er-Src	breast:	n/a	n/a
36	SIN3AK20	chr19:19716663-19717492	MCF-7	breast:	n/a	n/a
37	NR3C1	chr19:19716719-19717110	A549	lung:	n/a	n/a
38	RFX5	chr19:19716796-19717162	Hela-S3	cervix:	n/a	n/a
39	EP300	chr19:19716729-19717174	Hela-S3	cervix:	n/a	n/a
40	SIN3AK20	chr19:19716676-19717336	HCT-116	colon:	n/a	n/a
41	NR3C1	chr19:19716659-19717216	A549	lung:	n/a	n/a
42	MYC	chr19:19716740-19717111	MCF10A-Er-Src	breast:	n/a	n/a
43	EBF1	chr19:19716750-19717130	GM12878	blood:	n/a	n/a
44	STAT3	chr19:19716737-19717145	MCF10A-Er-Src	breast:	n/a	n/a
45	MAX	chr19:19716810-19717243	Hela-S3	cervix:	n/a	n/a
46	FOS	chr19:19716736-19717146	MCF10A-Er-Src	breast:	n/a	n/a
47	JUND	chr19:19716753-19717127	K562	blood:	n/a	n/a
48	CEBPB	chr19:19716548-19717421	HCT-116	colon:	n/a	n/a
49	TAL1	chr19:19716941-19717102	K562	blood:	n/a	n/a
50	NR3C1	chr19:19716772-19717105	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19716730..19718451-chr19:19737365..19740401,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CILP2-1	chr19:19716690-19717574	ENSG00000259242.1

No data

Variant related genes	Relation type
ENSG00000259242	TF binding region
ENSG00000064547	Chromatin interaction

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

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

rs_ID	r²[population]
rs10500212	0.85[EUR][1000 genomes]
rs12608729	0.85[EUR][1000 genomes]
rs12610185	0.85[EUR][1000 genomes]
rs12610191	0.85[EUR][1000 genomes]
rs16996185	0.85[EUR][1000 genomes]
rs17217098	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57504626	0.85[EUR][1000 genomes]
rs58847337	0.85[EUR][1000 genomes]
rs73004926	0.81[EUR][1000 genomes]
rs73004933	0.81[EUR][1000 genomes]
rs73004959	0.85[EUR][1000 genomes]
rs73004962	0.85[EUR][1000 genomes]
rs73004966	0.87[EUR][1000 genomes]
rs73004975	0.87[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	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer 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	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19702600-19719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:19706600-19728200	Weak transcription	Fetal Brain Male	brain
3	chr19:19707000-19718600	Weak transcription	Fetal Lung	lung
4	chr19:19707600-19728600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:19708800-19720000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:19708800-19724400	Weak transcription	NHDF-Ad	bronchial
7	chr19:19709000-19719200	Weak transcription	Fetal Brain Female	brain
8	chr19:19710200-19718800	Weak transcription	Fetal Stomach	stomach
9	chr19:19712800-19719400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:19712800-19724400	Weak transcription	Gastric	stomach
11	chr19:19713200-19719400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr19:19713600-19718600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:19713800-19718400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr19:19713800-19719200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:19713800-19728000	Weak transcription	Brain Germinal Matrix	brain
16	chr19:19714000-19717200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:19714000-19728800	Weak transcription	Brain Anterior Caudate	brain
18	chr19:19714200-19724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:19716200-19717600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:19716200-19718600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:19716400-19717200	Enhancers	Stomach Mucosa	stomach
22	chr19:19716400-19717400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:19716400-19717400	Enhancers	HMEC	breast
24	chr19:19716400-19717400	Enhancers	NHEK	skin
25	chr19:19716400-19717800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr19:19716600-19717600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:19716600-19717600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr19:19716600-19717600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr19:19716600-19718000	Enhancers	Primary T cells from cord blood	blood
30	chr19:19716600-19718000	Enhancers	Hela-S3	cervix
31	chr19:19716600-19720000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr19:19716800-19717200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:19716800-19717200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr19:19716800-19717200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:19716800-19717200	Enhancers	Primary hematopoietic stem cells	blood
36	chr19:19716800-19717200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr19:19716800-19717200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr19:19716800-19717200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr19:19716800-19717400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr19:19716800-19717400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:19716800-19717400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr19:19716800-19717400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr19:19716800-19717400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:19716800-19717400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:19716800-19717400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:19716800-19717400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:19716800-19717400	Enhancers	Fetal Intestine Large	intestine
48	chr19:19716800-19717400	Enhancers	Fetal Intestine Small	intestine
49	chr19:19716800-19717400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr19:19716800-19717400	Flanking Active TSS	Thymus	Thymus

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