Variant report

Variant	rs7246085
Chromosome Location	chr19:38894980-38894981
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38892832..38895683-chr19:38905614..38908476,2	K562	blood:
2	chr19:38892751..38895518-chr19:38905731..38908056,2	MCF-7	breast:
3	chr19:38864731..38867116-chr19:38892888..38894994,2	MCF-7	breast:
4	chr19:38864536..38866994-chr19:38891927..38895682,4	MCF-7	breast:
5	chr19:38825542..38827860-chr19:38892803..38895034,2	K562	blood:
6	chr19:38893264..38895978-chr19:39340017..39342861,2	MCF-7	breast:
7	chr19:38873942..38878444-chr19:38892255..38895006,5	K562	blood:
8	chr19:38891109..38897587-chr19:38900077..38906045,7	MCF-7	breast:
9	chr19:38892840..38895111-chr19:38906916..38908853,2	MCF-7	breast:
10	chr19:38810024..38812525-chr19:38892478..38895075,3	MCF-7	breast:
11	chr19:38878160..38880019-chr19:38892423..38895031,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267090	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000099337	Chromatin interaction
ENSG00000171777	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000179168	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11083454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11538289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2302228	1.00[EUR][1000 genomes]
rs3745955	0.80[EUR][1000 genomes]
rs3745963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3760884	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57753437	0.93[EUR][1000 genomes]
rs59491640	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780508	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508791	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245668	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246191	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257976	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043029	0.81[EUR][1000 genomes]
rs73043030	0.93[EUR][1000 genomes]
rs73043033	0.93[EUR][1000 genomes]
rs73043098	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044908	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044923	0.80[EUR][1000 genomes]
rs73044926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044930	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044953	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112499	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS 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	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv911662	chr19:38872634-38895809	Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1803709	chr19:38874828-38900078	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr19:38893200-38895000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:38893200-38895000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:38893200-38895200	Active TSS	Rectal Smooth Muscle	rectum
4	chr19:38893400-38895000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:38893400-38895000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr19:38893400-38895000	Active TSS	Duodenum Mucosa	Duodenum
7	chr19:38893400-38895000	Active TSS	Fetal Brain Female	brain
8	chr19:38893400-38895000	Active TSS	Osteobl	bone
9	chr19:38894200-38895000	Flanking Active TSS	Dnd41	blood
10	chr19:38894200-38895200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:38894400-38895000	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr19:38894400-38895000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr19:38894400-38895200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:38894400-38895200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:38894400-38895600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:38894400-38895600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:38894400-38895600	Enhancers	Spleen	Spleen
18	chr19:38894400-38898600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:38894400-38898800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr19:38894400-38903400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:38894400-38908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:38894600-38895000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr19:38894600-38895000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr19:38894600-38895000	Enhancers	Primary hematopoietic stem cells	blood
25	chr19:38894600-38895000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:38894600-38895000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:38894600-38895000	Enhancers	Liver	Liver
28	chr19:38894600-38895000	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr19:38894600-38895000	Enhancers	Fetal Muscle Trunk	muscle
30	chr19:38894600-38895000	Enhancers	Fetal Muscle Leg	muscle
31	chr19:38894600-38895000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr19:38894600-38895000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr19:38894600-38895000	Enhancers	HepG2	liver
34	chr19:38894600-38895000	Enhancers	HMEC	breast
35	chr19:38894600-38895000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr19:38894600-38895200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr19:38894600-38895200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:38894600-38895200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:38894600-38895200	Enhancers	Fetal Brain Male	brain
40	chr19:38894600-38895200	Enhancers	Fetal Thymus	thymus
41	chr19:38894600-38895200	Enhancers	Lung	lung
42	chr19:38894600-38895200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr19:38894600-38895400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr19:38894600-38895400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr19:38894600-38895400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:38894600-38895400	Weak transcription	Right Ventricle	heart
47	chr19:38894600-38895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:38894600-38895600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr19:38894600-38895600	Weak transcription	Gastric	stomach
50	chr19:38894600-38895800	Enhancers	Brain Cingulate Gyrus	brain

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