Variant report

Variant	rs348943
Chromosome Location	chr5:112823998-112823999
allele	A/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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:112810517..112812922-chr5:112822746..112824513,2	MCF-7	breast:
2	chr5:112771582..112773208-chr5:112822674..112824229,2	MCF-7	breast:
3	chr5:112815129..112817278-chr5:112821546..112824225,2	MCF-7	breast:
4	chr5:112823438..112825437-chr5:112848716..112850682,3	MCF-7	breast:
5	chr5:112823064..112825616-chr5:112827873..112829693,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSSK1B-1	chr5:112823942-112824520	NONHSAT103267

No data

Variant related genes	Relation type
ENSG00000251741	Chromatin interaction
ENSG00000047188	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10035293	0.91[YRI][hapmap]
rs10038504	0.92[YRI][hapmap]
rs10043783	0.91[YRI][hapmap]
rs10043834	0.91[YRI][hapmap]
rs10053052	0.88[YRI][hapmap]
rs10053157	0.91[YRI][hapmap]
rs10053622	0.91[YRI][hapmap]
rs10055327	0.88[YRI][hapmap]
rs10057264	0.88[YRI][hapmap]
rs10066163	0.81[YRI][hapmap]
rs11952758	0.91[YRI][hapmap]
rs11960559	0.90[YRI][hapmap]
rs164253	0.81[CEU][hapmap]
rs17135618	0.95[YRI][hapmap]
rs348937	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3857436	0.91[YRI][hapmap]
rs6879177	0.90[YRI][hapmap]
rs6879370	0.91[YRI][hapmap]
rs7709550	0.88[YRI][hapmap]
rs7709818	0.91[YRI][hapmap]
rs7722421	0.91[YRI][hapmap]
rs7731451	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112822000-112824400	Active TSS	HMEC	breast
2	chr5:112822200-112824600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:112822600-112824600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112822800-112824400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:112822800-112824400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:112822800-112824600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:112822800-112824800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:112822800-112825000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:112822800-112825200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:112823000-112824000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:112823000-112824000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
12	chr5:112823000-112824000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:112823000-112824000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
14	chr5:112823000-112824000	Active TSS	Right Atrium	heart
15	chr5:112823000-112824000	Active TSS	Right Ventricle	heart
16	chr5:112823000-112824200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:112823000-112824200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:112823000-112824200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:112823000-112824400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:112823000-112824400	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr5:112823000-112824400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
22	chr5:112823000-112824400	Active TSS	NHEK	skin
23	chr5:112823000-112824600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr5:112823000-112824600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:112823000-112824600	Active TSS	Ovary	ovary
26	chr5:112823000-112824600	Active TSS	NHLF	lung
27	chr5:112823000-112824800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:112823000-112824800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr5:112823000-112825000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr5:112823000-112825000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr5:112823000-112825000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
32	chr5:112823000-112825000	Active TSS	Fetal Kidney	kidney
33	chr5:112823000-112825000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:112823000-112825200	Active TSS	Aorta	Aorta
35	chr5:112823200-112824000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:112823200-112824000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr5:112823200-112824000	Flanking Bivalent TSS/Enh	Placenta	Placenta
38	chr5:112823200-112824000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
39	chr5:112823200-112824600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
40	chr5:112823200-112824600	Active TSS	Fetal Heart	heart
41	chr5:112823200-112824600	Active TSS	Left Ventricle	heart
42	chr5:112823200-112824600	Bivalent/Poised TSS	Thymus	Thymus
43	chr5:112823200-112824800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr5:112823200-112824800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr5:112823200-112825200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr5:112823400-112824000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
47	chr5:112823400-112824000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:112823400-112824000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:112823400-112824000	Flanking Active TSS	Liver	Liver
50	chr5:112823400-112824000	Flanking Active TSS	Gastric	stomach

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