Variant report

Variant	rs12913399
Chromosome Location	chr15:74246045-74246046
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74221858..74224522-chr15:74243431..74247187,3	MCF-7	breast:
2	chr15:74245232..74249723-chr15:74250188..74253151,4	MCF-7	breast:
3	chr15:74218076..74220045-chr15:74245770..74248331,2	MCF-7	breast:
4	chr15:74234935..74236699-chr15:74245732..74247930,2	K562	blood:
5	chr15:74227809..74230483-chr15:74244545..74246597,2	MCF-7	breast:
6	chr15:74234935..74236699-chr15:74244847..74247930,3	K562	blood:
7	chr15:74238012..74239922-chr15:74245063..74247153,2	MCF-7	breast:
8	chr15:74243548..74247023-chr15:74247125..74250024,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261801	Chromatin interaction
ENSG00000129038	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10152898	0.92[ASN][1000 genomes]
rs10152975	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1078555	0.90[CHB][hapmap]
rs11072453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11072456	0.86[AFR][1000 genomes]
rs11072457	0.92[ASN][1000 genomes]
rs11636435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11854876	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11858082	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12102019	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12438442	1.00[YRI][hapmap]
rs12906079	0.92[ASN][1000 genomes]
rs12907105	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12917449	0.80[CHB][hapmap]
rs1550434	0.90[CHB][hapmap]
rs34080912	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74234800-74249400	Weak transcription	Primary T cells from cord blood	blood
2	chr15:74237200-74247800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:74241200-74246400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:74242000-74246600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:74242600-74246200	Genic enhancers	NHLF	lung
6	chr15:74242600-74248400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:74242800-74248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:74242800-74251200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr15:74243000-74246200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:74243000-74246600	Genic enhancers	Fetal Stomach	stomach
11	chr15:74243000-74249000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:74243200-74246200	Enhancers	Placenta	Placenta
13	chr15:74243400-74246600	Enhancers	Fetal Brain Male	brain
14	chr15:74243400-74247000	Enhancers	Fetal Thymus	thymus
15	chr15:74244000-74249800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:74244000-74250800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:74244000-74251000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:74244200-74247000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:74244200-74249000	Weak transcription	Esophagus	oesophagus
20	chr15:74244400-74246400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:74244400-74246400	Genic enhancers	HSMMtube	muscle
22	chr15:74244400-74247800	Weak transcription	HMEC	breast
23	chr15:74244400-74248200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:74244400-74248200	Weak transcription	HUVEC	blood vessel
25	chr15:74244400-74248800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr15:74244400-74250200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:74244600-74248400	Weak transcription	Thymus	Thymus
28	chr15:74244800-74246200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:74245000-74246200	Enhancers	Adipose Nuclei	Adipose
30	chr15:74245000-74246200	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr15:74245000-74246600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:74245000-74246600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:74245000-74246600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:74245000-74246800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:74245000-74250000	Enhancers	Spleen	Spleen
36	chr15:74245000-74251200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr15:74245200-74248200	Weak transcription	Colonic Mucosa	Colon
38	chr15:74245200-74249000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:74245200-74249200	Weak transcription	Pancreas	Pancrea
40	chr15:74245400-74246200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr15:74245400-74249800	Weak transcription	Gastric	stomach
42	chr15:74245400-74257400	Weak transcription	Fetal Lung	lung
43	chr15:74245600-74246400	Enhancers	Fetal Muscle Leg	muscle
44	chr15:74245600-74247800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:74245600-74248000	Weak transcription	NH-A	brain
46	chr15:74245600-74248200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:74245600-74248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:74245800-74246200	Enhancers	Colon Smooth Muscle	Colon
49	chr15:74245800-74246400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:74245800-74246600	Strong transcription	Muscle Satellite Cultured Cells	--

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