Variant report

Variant	rs12978072
Chromosome Location	chr19:18050659-18050660
allele	A/G/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18042452..18046207-chr19:18050240..18053661,3	K562	blood:
2	chr19:17981307..17983810-chr19:18049684..18052887,3	K562	blood:
3	chr19:18047468..18050720-chr19:18106385..18110361,4	MCF-7	breast:
4	chr19:18042658..18044905-chr19:18047666..18051098,3	MCF-7	breast:
5	chr19:18047667..18050834-chr19:18110396..18113328,4	MCF-7	breast:
6	chr19:18047172..18050711-chr19:18106361..18109351,5	K562	blood:
7	chr19:18047804..18050827-chr19:18051646..18053620,5	K562	blood:
8	chr19:17976232..17986474-chr19:18040915..18051076,38	MCF-7	breast:
9	chr19:18049354..18052020-chr19:18056652..18058961,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105641	Chromatin interaction
ENSG00000007080	Chromatin interaction
ENSG00000105643	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10418352	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10419228	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11086085	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11672874	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12609274	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12610834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12710311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12974040	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12980843	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12985086	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12985769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808724	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4808725	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911214	chr19:17827442-18123965	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv833772	chr19:17965173-18139337	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv911226	chr19:18007077-18075077	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911227	chr19:18007077-18117646	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	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
8	nsv911228	chr19:18038782-18101830	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv911229	chr19:18042945-18117646	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18044600-18051000	Weak transcription	Aorta	Aorta
2	chr19:18044600-18058200	Weak transcription	Psoas Muscle	Psoas
3	chr19:18044800-18050800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr19:18044800-18051000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr19:18044800-18052000	Weak transcription	Esophagus	oesophagus
6	chr19:18044800-18052400	Weak transcription	Colonic Mucosa	Colon
7	chr19:18044800-18052800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:18044800-18053200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:18044800-18053400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:18044800-18054400	Weak transcription	Right Atrium	heart
11	chr19:18044800-18054400	Weak transcription	A549	lung
12	chr19:18044800-18054400	Weak transcription	NH-A	brain
13	chr19:18044800-18055000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr19:18044800-18055000	Weak transcription	HSMMtube	muscle
15	chr19:18044800-18057000	Weak transcription	Primary B cells from cord blood	blood
16	chr19:18044800-18057800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr19:18044800-18057800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:18044800-18058000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:18044800-18058000	Weak transcription	Fetal Brain Male	brain
20	chr19:18044800-18058000	Weak transcription	Fetal Kidney	kidney
21	chr19:18044800-18058000	Weak transcription	Small Intestine	intestine
22	chr19:18044800-18058200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:18045000-18051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:18045000-18052400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr19:18045000-18052400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:18045000-18052400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr19:18045000-18052400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:18045000-18052400	Weak transcription	K562	blood
29	chr19:18045000-18052600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:18045000-18053200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:18045000-18054400	Weak transcription	HUVEC	blood vessel
32	chr19:18045000-18055000	Weak transcription	Osteobl	bone
33	chr19:18045000-18057800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:18045000-18057800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:18045000-18058000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:18045000-18058000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:18045000-18058000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr19:18045000-18058000	Weak transcription	Fetal Heart	heart
39	chr19:18045000-18058000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:18045200-18051000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:18045200-18052800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr19:18045200-18052800	Weak transcription	Hela-S3	cervix
43	chr19:18045200-18058000	Weak transcription	Stomach Mucosa	stomach
44	chr19:18045400-18051000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:18045400-18054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:18045400-18057000	Weak transcription	GM12878-XiMat	blood
47	chr19:18045800-18052800	Strong transcription	Fetal Stomach	stomach
48	chr19:18046600-18051600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:18046600-18051600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:18046600-18052600	Strong transcription	Fetal Muscle Trunk	muscle

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