Variant report

Variant	rs7258287
Chromosome Location	chr19:55684388-55684389
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55683524..55688236-chr19:55723837..55729899,9	K562	blood:
2	chr19:55657471..55659943-chr19:55683212..55685599,2	K562	blood:
3	chr19:55684227..55686502-chr19:56163659..56165514,2	K562	blood:
4	chr19:55683305..55685405-chr19:55969607..55972457,2	K562	blood:
5	chr19:55677803..55679380-chr19:55684043..55686956,2	MCF-7	breast:
6	chr19:55668909..55673851-chr19:55684249..55689420,6	K562	blood:
7	chr19:55651262..55654083-chr19:55684163..55687103,3	K562	blood:
8	chr19:55682890..55686413-chr19:55726859..55729575,3	K562	blood:
9	chr19:55590426..55594638-chr19:55684228..55687886,4	K562	blood:
10	chr19:55682815..55684434-chr19:55902687..55904944,2	K562	blood:
11	chr19:55682875..55687636-chr19:55687850..55692874,6	MCF-7	breast:
12	chr19:55592011..55594638-chr19:55684282..55687431,3	K562	blood:
13	chr19:55627139..55630124-chr19:55683805..55687284,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYT5-1	chr19:55683946-55684461	NONHSAT068002

No data

Variant related genes	Relation type
ENSG00000167646	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000267577	Chromatin interaction
ENSG00000267110	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000129991	Chromatin interaction
ENSG00000063241	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16986304	1.00[MEX][hapmap]
rs4252572	1.00[MEX][hapmap]
rs4545938	1.00[AMR][1000 genomes]
rs4806652	1.00[MEX][hapmap]
rs7258659	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935315	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912453	chr19:55672007-55690398	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55682800-55684400	Enhancers	K562	blood
2	chr19:55683800-55684400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:55683800-55684400	Flanking Active TSS	NHDF-Ad	bronchial
4	chr19:55683800-55684800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:55683800-55685800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:55684000-55684400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
7	chr19:55684000-55684400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:55684000-55684400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr19:55684000-55684400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:55684000-55684400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:55684000-55684600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:55684000-55684800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr19:55684000-55684800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:55684000-55684800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr19:55684000-55684800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:55684000-55684800	Enhancers	Hela-S3	cervix
17	chr19:55684000-55684800	Flanking Active TSS	NHEK	skin
18	chr19:55684000-55684800	Flanking Active TSS	NHLF	lung
19	chr19:55684000-55685000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:55684000-55685000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr19:55684000-55685000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
22	chr19:55684000-55685000	Flanking Active TSS	Osteobl	bone
23	chr19:55684000-55685200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr19:55684000-55685400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:55684000-55685400	Flanking Active TSS	HMEC	breast
26	chr19:55684000-55685400	Flanking Active TSS	NH-A	brain
27	chr19:55684200-55684400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:55684200-55684400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:55684200-55684400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
30	chr19:55684200-55684400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:55684200-55684400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:55684200-55684400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:55684200-55684400	Bivalent Enhancer	Brain Angular Gyrus	brain
34	chr19:55684200-55684400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr19:55684200-55684400	Bivalent Enhancer	Spleen	Spleen
36	chr19:55684200-55684400	Flanking Active TSS	HSMM	muscle
37	chr19:55684200-55684600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr19:55684200-55684600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
39	chr19:55684200-55684600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr19:55684200-55684600	Flanking Active TSS	A549	lung
41	chr19:55684200-55684800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr19:55684200-55684800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr19:55684200-55684800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:55684200-55684800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr19:55684200-55684800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr19:55684200-55684800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:55684200-55684800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
48	chr19:55684200-55685000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:55684200-55685000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr19:55684200-55685000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain

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