Variant report

Variant	rs12610881
Chromosome Location	chr19:56097759-56097760
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56096999..56099797-chr19:56105951..56108003,2	MCF-7	breast:
2	chr19:56084698..56086327-chr19:56096471..56098746,2	K562	blood:
3	chr19:56097280..56100272-chr19:56145611..56147149,2	MCF-7	breast:
4	chr19:55850192..55852001-chr19:56096983..56099024,2	MCF-7	breast:
5	chr19:56088941..56095211-chr19:56096718..56100390,8	K562	blood:
6	chr19:55918624..55921043-chr19:56097395..56100015,2	K562	blood:
7	chr19:56069044..56071922-chr19:56096144..56098120,2	K562	blood:
8	chr19:56036876..56039163-chr19:56097331..56098917,2	MCF-7	breast:
9	chr19:56090646..56094002-chr19:56097318..56099978,3	MCF-7	breast:
10	chr19:56013276..56015265-chr19:56096962..56098655,2	K562	blood:
11	chr19:56061047..56063774-chr19:56096862..56098969,2	MCF-7	breast:
12	chr19:56097571..56102985-chr19:56113573..56116936,6	K562	blood:
13	chr19:55917619..55919314-chr19:56097320..56099806,2	K562	blood:
14	chr19:56097065..56098659-chr19:56102630..56104410,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171425	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000218891	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000261221	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403462	0.84[ASN][1000 genomes]
rs10451452	0.85[ASN][1000 genomes]
rs1079082	0.97[ASN][1000 genomes]
rs1079083	0.97[ASN][1000 genomes]
rs1079084	0.97[ASN][1000 genomes]
rs1079085	0.97[ASN][1000 genomes]
rs11084402	0.99[ASN][1000 genomes]
rs11665826	0.99[ASN][1000 genomes]
rs11668725	0.96[ASN][1000 genomes]
rs11668729	0.96[ASN][1000 genomes]
rs11669682	0.99[ASN][1000 genomes]
rs11879347	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12610510	0.95[ASN][1000 genomes]
rs12610512	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12610709	0.97[ASN][1000 genomes]
rs12972159	0.99[ASN][1000 genomes]
rs12974617	0.95[ASN][1000 genomes]
rs12978375	0.96[ASN][1000 genomes]
rs12979354	0.99[ASN][1000 genomes]
rs12979366	0.99[ASN][1000 genomes]
rs12980543	0.99[ASN][1000 genomes]
rs2014329	0.87[ASN][1000 genomes]
rs2864433	0.99[ASN][1000 genomes]
rs2902748	0.99[ASN][1000 genomes]
rs34174244	0.99[ASN][1000 genomes]
rs34715654	0.90[ASN][1000 genomes]
rs34937940	0.95[ASN][1000 genomes]
rs35088354	0.90[ASN][1000 genomes]
rs35197282	0.99[ASN][1000 genomes]
rs35522245	0.99[ASN][1000 genomes]
rs35839536	0.99[ASN][1000 genomes]
rs36047579	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60220392	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71368855	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71368856	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7246944	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7251733	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56093200-56098400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:56096200-56098000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:56096200-56098400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:56096400-56098200	Weak transcription	Hela-S3	cervix
5	chr19:56096800-56097800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:56096800-56097800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:56096800-56097800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:56096800-56097800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:56096800-56097800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr19:56096800-56097800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr19:56096800-56097800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:56096800-56097800	Flanking Active TSS	Fetal Muscle Trunk	muscle
13	chr19:56096800-56097800	Flanking Active TSS	Fetal Stomach	stomach
14	chr19:56096800-56097800	Flanking Active TSS	Dnd41	blood
15	chr19:56096800-56098000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:56096800-56098000	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr19:56096800-56098400	Enhancers	Esophagus	oesophagus
18	chr19:56096800-56098800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr19:56096800-56098800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:56096800-56098800	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr19:56096800-56099000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr19:56096800-56099200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:56096800-56099200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:56096800-56099200	Active TSS	Fetal Kidney	kidney
25	chr19:56096800-56099400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:56097000-56097800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr19:56097000-56097800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:56097000-56097800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:56097000-56097800	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr19:56097000-56097800	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr19:56097000-56097800	Flanking Active TSS	Fetal Thymus	thymus
32	chr19:56097000-56097800	Flanking Active TSS	Right Ventricle	heart
33	chr19:56097000-56097800	Flanking Active TSS	A549	lung
34	chr19:56097000-56097800	Enhancers	HSMMtube	muscle
35	chr19:56097000-56098200	Enhancers	HMEC	breast
36	chr19:56097000-56098200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr19:56097000-56098400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:56097000-56098400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr19:56097000-56098600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr19:56097000-56098800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:56097000-56098800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr19:56097000-56098800	Enhancers	Small Intestine	intestine
43	chr19:56097000-56099000	Enhancers	Lung	lung
44	chr19:56097000-56099200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr19:56097000-56099200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:56097000-56099200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr19:56097000-56099200	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr19:56097000-56099200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr19:56097200-56097800	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr19:56097200-56097800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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