Variant report

Variant	rs4343248
Chromosome Location	chr15:41079217-41079218
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41059314..41061862-chr15:41077543..41079580,2	K562	blood:
2	chr15:41077859..41079629-chr15:41084264..41087034,2	K562	blood:
3	chr15:41078389..41079934-chr15:41097837..41099741,2	MCF-7	breast:
4	chr15:41078916..41081260-chr15:41083932..41085617,2	MCF-7	breast:
5	chr15:41078129..41079862-chr15:41083118..41085764,2	K562	blood:
6	chr15:41078138..41079704-chr15:41098230..41100236,2	MCF-7	breast:
7	chr15:41076638..41081333-chr15:41183432..41186983,4	MCF-7	breast:
8	chr15:41079101..41081829-chr15:41185816..41187500,2	MCF-7	breast:
9	chr15:41076760..41081645-chr15:41164224..41167556,4	MCF-7	breast:
10	chr15:41076601..41080762-chr15:41116674..41123009,6	MCF-7	breast:
11	chr15:41073963..41081336-chr15:41133817..41139655,12	MCF-7	breast:
12	chr15:41073204..41083534-chr15:41133992..41141155,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104142	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000166143	Chromatin interaction
ENSG00000264256	Chromatin interaction
ENSG00000104140	Chromatin interaction
ENSG00000166145	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16970995	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970997	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971013	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16971015	0.85[AMR][1000 genomes]
rs1814415	1.00[AMR][1000 genomes]
rs2004043	0.85[AMR][1000 genomes]
rs2412552	0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28460049	1.00[AMR][1000 genomes]
rs28480346	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28498351	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28718778	0.85[AMR][1000 genomes]
rs57191378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57380807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58036350	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61317135	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61405952	1.00[AMR][1000 genomes]
rs7165694	0.85[AMR][1000 genomes]
rs7166719	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398512	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73398517	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398522	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs934783	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr15:41062400-41079400	Weak transcription	Right Atrium	heart
2	chr15:41067600-41085400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41068000-41087800	Weak transcription	Fetal Heart	heart
4	chr15:41069400-41079400	Weak transcription	NHDF-Ad	bronchial
5	chr15:41072200-41079400	Weak transcription	Brain Anterior Caudate	brain
6	chr15:41072200-41079400	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:41072200-41079400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:41072200-41079400	Weak transcription	Fetal Thymus	thymus
9	chr15:41072200-41079600	Weak transcription	Aorta	Aorta
10	chr15:41072400-41079400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:41072400-41079400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:41072400-41079400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:41072400-41079400	Weak transcription	NHLF	lung
14	chr15:41072400-41079600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr15:41072400-41083400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:41072400-41090200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:41072600-41079400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:41072600-41079400	Weak transcription	Primary T cells from cord blood	blood
19	chr15:41072600-41079400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:41072600-41079400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:41072600-41079400	Weak transcription	Right Ventricle	heart
22	chr15:41072600-41079400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:41072600-41079400	Weak transcription	Spleen	Spleen
24	chr15:41072600-41079400	Weak transcription	Hela-S3	cervix
25	chr15:41072600-41079600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:41072600-41079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:41072600-41079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:41072600-41079800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:41072600-41079800	Weak transcription	Lung	lung
30	chr15:41072600-41081400	Weak transcription	Fetal Muscle Leg	muscle
31	chr15:41072600-41082200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:41072600-41082600	Weak transcription	Primary B cells from cord blood	blood
33	chr15:41072600-41084000	Weak transcription	Brain Germinal Matrix	brain
34	chr15:41072600-41098600	Weak transcription	Fetal Brain Female	brain
35	chr15:41072600-41098600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:41072800-41080200	Weak transcription	Fetal Stomach	stomach
37	chr15:41072800-41084200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:41075200-41079400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:41075600-41081200	Weak transcription	K562	blood
40	chr15:41077400-41079400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr15:41077400-41079400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:41077400-41082200	Enhancers	Stomach Mucosa	stomach
43	chr15:41077600-41079400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr15:41077600-41079600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr15:41077600-41079600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr15:41077600-41080400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr15:41077600-41080600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:41077600-41080600	Enhancers	Placenta	Placenta
49	chr15:41077600-41081600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr15:41077600-41081800	Enhancers	Rectal Mucosa Donor 31	rectum

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