Variant report

Variant	rs12610863
Chromosome Location	chr19:55854389-55854390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55853900-55854435	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55848515..55857343-chr19:55894079..55900232,19	MCF-7	breast:
2	chr19:55853165..55857260-chr19:55879821..55883048,3	MCF-7	breast:
3	chr19:55849530..55854944-chr19:55915448..55920939,7	K562	blood:
4	chr19:55848915..55854876-chr19:55892600..55899757,13	MCF-7	breast:
5	chr19:55847613..55856135-chr19:55893756..55900268,15	K562	blood:

No data

Variant related genes	Relation type
SUV420H2	TF binding region
ENSG00000108106	Chromatin interaction
ENSG00000095752	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000233493	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10405231	0.86[ASN][1000 genomes]
rs1058511	0.85[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap]
rs11084395	0.89[ASN][1000 genomes]
rs11084396	0.83[CHD][hapmap]
rs1870073	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs8105530	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
7	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription 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	99 gene(s)	inside rSNPs	diseases
9	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
11	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
12	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers 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 miRNA target site	203 gene(s)	inside rSNPs	diseases
13	esv1799638	chr19:55850652-55883879	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
14	nsv516199	chr19:55854313-55901099	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
15	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh 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	196 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55852400-55860200	Weak transcription	Aorta	Aorta
2	chr19:55852600-55854800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55852600-55857000	Weak transcription	Stomach Mucosa	stomach
4	chr19:55852600-55857400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:55852800-55857400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:55852800-55859600	Weak transcription	Psoas Muscle	Psoas
7	chr19:55853000-55855200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:55853200-55854600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr19:55853200-55854800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:55853200-55855000	Weak transcription	Primary T cells from cord blood	blood
11	chr19:55853200-55855200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:55853200-55855200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:55853200-55855400	Strong transcription	Brain Cingulate Gyrus	brain
14	chr19:55853200-55855600	Strong transcription	Lung	lung
15	chr19:55853200-55857400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:55853200-55857600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr19:55853200-55857600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:55853200-55859600	Weak transcription	Fetal Kidney	kidney
19	chr19:55853200-55859800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr19:55853200-55860400	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr19:55853200-55860400	Genic enhancers	Fetal Muscle Leg	muscle
22	chr19:55853200-55861400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:55853200-55861800	Weak transcription	Small Intestine	intestine
24	chr19:55853200-55861800	Weak transcription	NHEK	skin
25	chr19:55853200-55862600	Weak transcription	Left Ventricle	heart
26	chr19:55853200-55862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:55853200-55862800	Weak transcription	Primary B cells from cord blood	blood
28	chr19:55853200-55862800	Weak transcription	Osteobl	bone
29	chr19:55853400-55854400	Strong transcription	Pancreatic Islets	Pancreatic Islet
30	chr19:55853400-55854800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:55853400-55854800	Genic enhancers	Fetal Brain Female	brain
32	chr19:55853400-55854800	Strong transcription	Fetal Lung	lung
33	chr19:55853400-55855000	Strong transcription	Fetal Stomach	stomach
34	chr19:55853400-55855000	Strong transcription	Pancreas	Pancrea
35	chr19:55853400-55855200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:55853400-55855200	Strong transcription	Colonic Mucosa	Colon
37	chr19:55853400-55855200	Strong transcription	NHLF	lung
38	chr19:55853400-55855400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr19:55853400-55855400	Strong transcription	Adipose Nuclei	Adipose
40	chr19:55853400-55855400	Strong transcription	Brain Hippocampus Middle	brain
41	chr19:55853400-55855400	Strong transcription	Esophagus	oesophagus
42	chr19:55853400-55855400	Strong transcription	Fetal Intestine Large	intestine
43	chr19:55853400-55855400	Genic enhancers	Dnd41	blood
44	chr19:55853400-55855400	Weak transcription	HSMM	muscle
45	chr19:55853400-55855800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:55853400-55855800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:55853400-55855800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:55853400-55855800	Weak transcription	Brain Angular Gyrus	brain
49	chr19:55853400-55855800	Weak transcription	Hela-S3	cervix
50	chr19:55853400-55856000	Strong transcription	Colon Smooth Muscle	Colon

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