Variant report

Variant	rs12917501
Chromosome Location	chr15:74229403-74229404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74218715..74223482-chr15:74226725..74230359,5	K562	blood:
2	chr15:74227645..74229467-chr15:74238561..74240204,2	MCF-7	breast:
3	chr15:74227809..74230483-chr15:74244545..74246597,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129038	Chromatin interaction
ENSG00000261801	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10775207	1.00[CEU][hapmap]
rs10851865	0.90[EUR][1000 genomes]
rs12708513	0.90[EUR][1000 genomes]
rs4243039	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4243040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4243041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4423374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4497636	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7173840	1.00[CEU][hapmap]
rs8027093	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9783739	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043335	chr15:74078689-74241186	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1603	chr15:74191222-74235733	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74221800-74231800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:74222000-74231400	Weak transcription	Left Ventricle	heart
3	chr15:74222400-74233200	Weak transcription	Fetal Thymus	thymus
4	chr15:74222600-74243200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:74223400-74230400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:74223800-74229800	Genic enhancers	Osteobl	bone
7	chr15:74224400-74231400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:74224800-74230200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:74225200-74231400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:74226400-74230000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr15:74226600-74229600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:74226800-74229800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:74227200-74229600	Enhancers	Duodenum Mucosa	Duodenum
14	chr15:74227200-74230000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:74227200-74230000	Enhancers	Placenta	Placenta
16	chr15:74227200-74230000	Genic enhancers	Fetal Stomach	stomach
17	chr15:74227400-74229600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:74227400-74229600	Enhancers	Fetal Lung	lung
19	chr15:74227400-74229600	Enhancers	HMEC	breast
20	chr15:74227400-74230000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:74227600-74231200	Weak transcription	HSMMtube	muscle
22	chr15:74227600-74231200	Weak transcription	NHDF-Ad	bronchial
23	chr15:74227600-74233000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:74227600-74236600	Weak transcription	Thymus	Thymus
25	chr15:74227800-74230000	Enhancers	Spleen	Spleen
26	chr15:74227800-74233800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:74228000-74230000	Enhancers	Ovary	ovary
28	chr15:74228200-74232800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:74228400-74229600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:74228400-74231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:74228400-74232800	Weak transcription	Gastric	stomach
32	chr15:74228400-74239600	Weak transcription	Pancreas	Pancrea
33	chr15:74228600-74231200	Weak transcription	HSMM	muscle
34	chr15:74228600-74231400	Weak transcription	Right Atrium	heart
35	chr15:74228600-74233200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:74228600-74233400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:74228800-74229600	Enhancers	Brain Hippocampus Middle	brain
38	chr15:74228800-74229600	Enhancers	Stomach Smooth Muscle	stomach
39	chr15:74228800-74232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:74228800-74243200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:74229000-74230000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr15:74229000-74231400	Weak transcription	NHLF	lung
43	chr15:74229000-74232800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:74229000-74232800	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:74229000-74233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:74229000-74236600	Weak transcription	Brain Substantia Nigra	brain
47	chr15:74229000-74243000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:74229200-74231000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:74229200-74231000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:74229200-74231000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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