Variant report

Variant	rs4243039
Chromosome Location	chr15:74226902-74226903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74224754..74226933-chr15:74339515..74341343,2	MCF-7	breast:
2	chr15:74222260..74224149-chr15:74225339..74227538,2	K562	blood:
3	chr15:74218715..74223482-chr15:74226725..74230359,5	K562	blood:
4	chr15:74226756..74229357-chr15:74247800..74251030,3	MCF-7	breast:
5	chr15:74226747..74228446-chr15:74257644..74259264,2	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];1.00[GIH][hapmap]
rs10851865	0.90[EUR][1000 genomes]
rs12708513	0.90[EUR][1000 genomes]
rs12917501	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74220800-74228000	Weak transcription	Fetal Kidney	kidney
2	chr15:74220800-74228400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:74221600-74228800	Weak transcription	Aorta	Aorta
4	chr15:74221800-74227200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:74221800-74227400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:74221800-74227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:74221800-74227800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:74221800-74231800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:74222000-74231400	Weak transcription	Left Ventricle	heart
10	chr15:74222400-74227200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:74222400-74228000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:74222400-74233200	Weak transcription	Fetal Thymus	thymus
13	chr15:74222600-74243200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:74222800-74227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:74222800-74228400	Weak transcription	Fetal Heart	heart
16	chr15:74223000-74227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:74223200-74227200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:74223200-74227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:74223200-74227400	Weak transcription	HMEC	breast
20	chr15:74223200-74227800	Weak transcription	Colon Smooth Muscle	Colon
21	chr15:74223200-74228000	Weak transcription	Right Ventricle	heart
22	chr15:74223200-74228400	Weak transcription	Esophagus	oesophagus
23	chr15:74223400-74227200	Weak transcription	Placenta	Placenta
24	chr15:74223400-74227400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:74223400-74228000	Weak transcription	Ovary	ovary
26	chr15:74223400-74230400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:74223600-74227200	Strong transcription	Fetal Stomach	stomach
28	chr15:74223800-74229800	Genic enhancers	Osteobl	bone
29	chr15:74224000-74228000	Weak transcription	Adipose Nuclei	Adipose
30	chr15:74224200-74227000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:74224200-74227800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:74224400-74227000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr15:74224400-74231400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:74224600-74227200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:74224600-74227400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:74224800-74227800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:74224800-74230200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:74225000-74228400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:74225000-74229400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:74225200-74227200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:74225200-74227400	Weak transcription	Fetal Lung	lung
42	chr15:74225200-74228400	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:74225200-74231400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:74225400-74229400	Enhancers	Primary hematopoietic stem cells	blood
45	chr15:74225800-74227600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:74225800-74227600	Strong transcription	NHDF-Ad	bronchial
47	chr15:74225800-74228600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:74226000-74228400	Enhancers	Pancreas	Pancrea
49	chr15:74226200-74228000	Enhancers	Hela-S3	cervix
50	chr15:74226200-74228400	Enhancers	Lung	lung

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