Variant report

Variant	rs7259445
Chromosome Location	chr19:18283011-18283012
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18282503-18283156	HepG2	liver:	n/a	n/a
2	RCOR1	chr19:18282891-18283152	K562	blood:	n/a	n/a
3	POLR2A	chr19:18281250-18285709	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:18282456-18283371	SK-N-SH	brain:	n/a	n/a
5	ZNF143	chr19:18282801-18283157	K562	blood:	n/a	n/a
6	POLR2A	chr19:18282526-18283216	PANC-1	pancreas:	n/a	n/a
7	RCOR1	chr19:18282816-18283136	K562	blood:	n/a	n/a
8	POLR2A	chr19:18282274-18283383	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr19:18282311-18283152	GM12892	blood:	n/a	n/a
10	ZNF143	chr19:18282805-18283167	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:18282228-18283191	K562	blood:	n/a	n/a
12	NFIC	chr19:18282805-18283398	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr19:18279373-18286732	GM12878	blood:	n/a	n/a
14	MAX	chr19:18282332-18283181	K562	blood:	n/a	n/a
15	ESRRA	chr19:18278731-18286097	GM12878	blood:	n/a	chr19:18279118-18279137 chr19:18282624-18282637 chr19:18283844-18283858
16	MTA3	chr19:18282718-18283187	GM12878	blood:	n/a	n/a
17	WRNIP1	chr19:18282676-18283165	GM12878	blood:	n/a	n/a
18	MTA3	chr19:18282302-18283231	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:18281367-18283241	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:18282412-18283057	GM12878	blood:	n/a	n/a
21	STAT5A	chr19:18282490-18283264	GM12878	blood:	n/a	chr19:18282914-18282926
22	POLR2A	chr19:18282388-18283495	HepG2	liver:	n/a	n/a
23	POLR2A	chr19:18282464-18283140	K562	blood:	n/a	n/a
24	POLR2A	chr19:18282298-18283468	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr19:18282434-18283161	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:18282823-18283043	HCT-116	colon:	n/a	n/a
27	CBX3	chr19:18282324-18283192	K562	blood:	n/a	n/a
28	POLR2A	chr19:18282326-18283869	MCF-7	breast:	n/a	n/a
29	POLR2A	chr19:18282546-18283287	PANC-1	pancreas:	n/a	n/a
30	CTCF	chr19:18282880-18283030	HFF-Myc	foreskin:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18234040..18236524-chr19:18282001..18284422,2	K562	blood:
2	chr19:18270841..18274089-chr19:18281381..18284533,5	MCF-7	breast:
3	chr19:18270258..18275351-chr19:18277257..18287386,21	K562	blood:
4	chr19:18282901..18285514-chr19:18334924..18337003,2	K562	blood:
5	chr1:28973733..28975604-chr19:18282504..18285384,2	K562	blood:
6	chr19:18262258..18263817-chr19:18282414..18284169,2	K562	blood:
7	chr19:18278323..18281380-chr19:18281484..18284654,3	MCF-7	breast:
8	chr19:18270372..18276469-chr19:18282239..18286487,12	K562	blood:
9	chr19:18282952..18288338-chr19:18301660..18306832,7	K562	blood:
10	chr19:18260584..18267400-chr19:18276077..18285960,14	MCF-7	breast:
11	chr19:18277547..18280046-chr19:18281617..18284436,4	K562	blood:
12	chr19:18275011..18277551-chr19:18282905..18285760,2	MCF-7	breast:
13	chr19:18282614..18283241-chr19:18362331..18362907,2	K562	blood:

No data

Variant related genes	Relation type
IFI30	TF binding region
ENSG00000105647	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000099308	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1045747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2241090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273265	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs273266	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2921	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4808118	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4808757	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4808758	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6512247	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7248971	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72999501	0.98[AFR][1000 genomes]
rs73001407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs887945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv911243	chr19:18206681-18283501	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv911244	chr19:18206681-18304700	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv833774	chr19:18213761-18295329	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv911246	chr19:18224729-18283501	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv911247	chr19:18224729-18288069	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised 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	37 gene(s)	inside rSNPs	diseases
18	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
20	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
21	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
22	nsv911254	chr19:18248146-18310678	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
23	nsv911256	chr19:18255359-18338101	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised 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	37 gene(s)	inside rSNPs	diseases
24	nsv911259	chr19:18264940-18283501	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18265000-18284200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:18272800-18284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:18272800-18284200	Weak transcription	Right Atrium	heart
4	chr19:18272800-18284200	Weak transcription	Stomach Mucosa	stomach
5	chr19:18272800-18284600	Weak transcription	Small Intestine	intestine
6	chr19:18273000-18283800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:18274400-18284000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:18277000-18284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:18277000-18284200	Weak transcription	NH-A	brain
10	chr19:18277000-18284400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:18277000-18284600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:18277200-18284000	Weak transcription	Fetal Brain Male	brain
13	chr19:18277200-18284200	Weak transcription	HSMM	muscle
14	chr19:18277400-18284400	Weak transcription	Psoas Muscle	Psoas
15	chr19:18277400-18284400	Weak transcription	HMEC	breast
16	chr19:18277400-18284600	Weak transcription	Fetal Kidney	kidney
17	chr19:18278200-18284200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:18278400-18284000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:18278400-18284400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:18278600-18284200	Enhancers	Primary B cells from cord blood	blood
21	chr19:18278600-18284400	Weak transcription	Primary T cells from cord blood	blood
22	chr19:18279200-18284200	Weak transcription	HSMMtube	muscle
23	chr19:18279400-18283800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr19:18279400-18283800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:18279400-18284200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:18279400-18284200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:18279600-18284200	Weak transcription	HepG2	liver
28	chr19:18279800-18284200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:18279800-18284200	Weak transcription	Hela-S3	cervix
30	chr19:18279800-18284400	Weak transcription	HUVEC	blood vessel
31	chr19:18279800-18284600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:18280000-18284000	Weak transcription	Pancreas	Pancrea
33	chr19:18280000-18284200	Weak transcription	Brain Anterior Caudate	brain
34	chr19:18280000-18284200	Weak transcription	A549	lung
35	chr19:18280400-18284200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:18280400-18284200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:18280400-18284200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:18280400-18284600	Weak transcription	Aorta	Aorta
39	chr19:18280400-18284600	Weak transcription	Fetal Lung	lung
40	chr19:18280600-18283800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:18280600-18283800	Weak transcription	Dnd41	blood
42	chr19:18280600-18284000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:18280600-18284000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:18280600-18284000	Weak transcription	Colonic Mucosa	Colon
45	chr19:18280600-18284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:18280600-18284200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:18280600-18284200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:18280600-18284200	Enhancers	Primary B cells from peripheral blood	blood
49	chr19:18280600-18284200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:18280600-18284200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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