Variant report

Variant	rs7251733
Chromosome Location	chr19:56099951-56099952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56098772..56100452-chr19:56100661..56102201,3	K562	blood:
2	chr19:56098772..56100429-chr19:56100677..56102201,2	K562	blood:
3	chr19:56098773..56102057-chr19:56102785..56106000,5	K562	blood:
4	chr19:56097280..56100272-chr19:56145611..56147149,2	MCF-7	breast:
5	chr19:56088941..56095211-chr19:56096718..56100390,8	K562	blood:
6	chr19:55918624..55921043-chr19:56097395..56100015,2	K562	blood:
7	chr19:56054963..56057177-chr19:56099107..56101706,2	MCF-7	breast:
8	chr19:56090646..56094002-chr19:56097318..56099978,3	MCF-7	breast:
9	chr19:56098521..56100588-chr19:56100809..56103773,2	MCF-7	breast:
10	chr19:56037840..56039622-chr19:56098550..56100478,2	MCF-7	breast:
11	chr19:56097571..56102985-chr19:56113573..56116936,6	K562	blood:
12	chr19:56028717..56031464-chr19:56098193..56100139,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000218891	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000231274	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10403462	0.85[ASN][1000 genomes]
rs10451452	0.86[ASN][1000 genomes]
rs1079082	0.96[ASN][1000 genomes]
rs1079083	0.96[ASN][1000 genomes]
rs1079084	0.96[ASN][1000 genomes]
rs1079085	0.96[ASN][1000 genomes]
rs11084402	0.97[ASN][1000 genomes]
rs11665826	0.97[ASN][1000 genomes]
rs11668725	0.95[ASN][1000 genomes]
rs11668729	0.95[ASN][1000 genomes]
rs11669682	0.97[ASN][1000 genomes]
rs11879347	0.99[ASN][1000 genomes]
rs12610510	0.93[ASN][1000 genomes]
rs12610512	0.95[ASN][1000 genomes]
rs12610709	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12610881	0.99[ASN][1000 genomes]
rs12972159	0.97[ASN][1000 genomes]
rs12974617	0.93[ASN][1000 genomes]
rs12978375	0.95[ASN][1000 genomes]
rs12979354	0.97[ASN][1000 genomes]
rs12979366	0.97[ASN][1000 genomes]
rs12980543	0.97[ASN][1000 genomes]
rs2014329	0.86[ASN][1000 genomes]
rs2864433	0.97[ASN][1000 genomes]
rs2902748	0.97[ASN][1000 genomes]
rs34174244	0.97[ASN][1000 genomes]
rs34715654	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34937940	0.93[ASN][1000 genomes]
rs35088354	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35197282	0.97[ASN][1000 genomes]
rs35522245	0.97[ASN][1000 genomes]
rs35839536	0.97[ASN][1000 genomes]
rs36047579	0.92[ASN][1000 genomes]
rs60220392	0.97[ASN][1000 genomes]
rs71368855	0.95[ASN][1000 genomes]
rs71368856	0.95[ASN][1000 genomes]
rs7246944	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56097800-56106600	Weak transcription	Aorta	Aorta
2	chr19:56098400-56103400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:56098600-56102800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:56098800-56101200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:56098800-56101200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:56098800-56101400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:56098800-56101400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:56098800-56101400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:56098800-56101400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:56098800-56102000	Weak transcription	Fetal Stomach	stomach
11	chr19:56098800-56102600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:56098800-56102800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:56098800-56103600	Weak transcription	Esophagus	oesophagus
14	chr19:56098800-56104800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:56098800-56106200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:56098800-56106200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:56098800-56106200	Weak transcription	Small Intestine	intestine
18	chr19:56098800-56106400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:56098800-56106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:56098800-56106600	Weak transcription	HSMMtube	muscle
21	chr19:56098800-56109800	Weak transcription	Fetal Heart	heart
22	chr19:56099000-56100000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr19:56099000-56101800	Weak transcription	Stomach Mucosa	stomach
24	chr19:56099000-56102600	Weak transcription	Fetal Brain Female	brain
25	chr19:56099000-56102800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:56099000-56102800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:56099000-56102800	Weak transcription	Fetal Muscle Leg	muscle
28	chr19:56099000-56103000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:56099000-56103000	Weak transcription	Brain Anterior Caudate	brain
30	chr19:56099000-56103000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:56099000-56103000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:56099000-56103000	Weak transcription	Fetal Lung	lung
33	chr19:56099000-56103200	Weak transcription	Brain Angular Gyrus	brain
34	chr19:56099000-56103400	Weak transcription	Left Ventricle	heart
35	chr19:56099000-56103600	Weak transcription	Colonic Mucosa	Colon
36	chr19:56099000-56103600	Weak transcription	Gastric	stomach
37	chr19:56099000-56103600	Weak transcription	Lung	lung
38	chr19:56099000-56103600	Weak transcription	NHLF	lung
39	chr19:56099000-56103800	Weak transcription	Right Ventricle	heart
40	chr19:56099000-56105800	Weak transcription	HSMM	muscle
41	chr19:56099000-56106200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:56099000-56106200	Weak transcription	Psoas Muscle	Psoas
43	chr19:56099000-56106200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:56099000-56106800	Weak transcription	Colon Smooth Muscle	Colon
45	chr19:56099000-56106800	Weak transcription	NHDF-Ad	bronchial
46	chr19:56099000-56107000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr19:56099200-56100000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr19:56099200-56100000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr19:56099200-56101200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:56099200-56101400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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