Variant report

Variant	rs2615219
Chromosome Location	chr15:57507749-57507750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr15:57507509-57507752	HepG2	liver:	n/a	n/a
2	STAT3	chr15:57507517-57507847	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:57210007..57212139-chr15:57506855..57509389,2	K562	blood:
2	chr15:57507579..57509152-chr15:57511369..57513515,2	K562	blood:
3	chr15:57506333..57510182-chr15:57512015..57516171,5	K562	blood:

Variant related genes	Relation type
TCF12	TF binding region
ENSG00000137871	Chromatin interaction
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1867640	1.00[AMR][1000 genomes]
rs1867642	1.00[AMR][1000 genomes]
rs2431022	1.00[YRI][hapmap]
rs2431031	1.00[YRI][hapmap]
rs2441923	1.00[AMR][1000 genomes]
rs2441927	1.00[AMR][1000 genomes]
rs2566852	1.00[YRI][hapmap]
rs2585092	1.00[YRI][hapmap]
rs2585096	1.00[YRI][hapmap]
rs2585098	1.00[YRI][hapmap]
rs2591067	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2591070	1.00[AMR][1000 genomes]
rs2593213	1.00[YRI][hapmap]
rs2593224	0.87[AFR][1000 genomes]
rs2615229	1.00[AMR][1000 genomes]
rs2703603	1.00[YRI][hapmap]
rs2703609	1.00[YRI][hapmap]
rs2703615	1.00[YRI][hapmap]
rs2703622	1.00[YRI][hapmap]
rs2733186	1.00[YRI][hapmap]
rs2733190	1.00[YRI][hapmap]
rs2733196	1.00[YRI][hapmap]
rs2733301	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2733312	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733319	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2733344	1.00[YRI][hapmap]
rs2920271	1.00[YRI][hapmap]
rs8042069	1.00[YRI][hapmap];1.00[AMR][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	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv457164	chr15:57495060-57559387	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv569578	chr15:57495060-57559387	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:57478800-57526200	Weak transcription	Hela-S3	cervix
3	chr15:57479400-57524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:57481800-57524600	Weak transcription	Right Ventricle	heart
5	chr15:57487000-57524400	Weak transcription	Placenta	Placenta
6	chr15:57487200-57511200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:57488200-57511600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:57491200-57508000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:57491400-57510000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:57491400-57510000	Weak transcription	Psoas Muscle	Psoas
11	chr15:57491400-57510200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr15:57491400-57511200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:57491600-57508000	Weak transcription	HUVEC	blood vessel
14	chr15:57491600-57515200	Weak transcription	GM12878-XiMat	blood
15	chr15:57492400-57511600	Weak transcription	Left Ventricle	heart
16	chr15:57494200-57508600	Weak transcription	Dnd41	blood
17	chr15:57496400-57508000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:57496400-57510200	Weak transcription	Small Intestine	intestine
19	chr15:57501200-57524400	Weak transcription	Thymus	Thymus
20	chr15:57501600-57510200	Weak transcription	Primary B cells from cord blood	blood
21	chr15:57502400-57509600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:57503000-57510400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:57503400-57508600	Weak transcription	Primary T cells from cord blood	blood
24	chr15:57504200-57508200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:57504400-57510200	Enhancers	Brain Hippocampus Middle	brain
26	chr15:57504600-57510000	Enhancers	Brain Anterior Caudate	brain
27	chr15:57504800-57510200	Enhancers	Brain Substantia Nigra	brain
28	chr15:57505000-57509800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr15:57505000-57510000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:57505000-57510200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:57505200-57508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:57505200-57508000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:57505200-57508200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:57505200-57508200	Enhancers	NHLF	lung
35	chr15:57505200-57510000	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:57505200-57511400	Enhancers	Fetal Lung	lung
37	chr15:57505400-57508400	Enhancers	HSMM	muscle
38	chr15:57505800-57507800	Enhancers	HepG2	liver
39	chr15:57505800-57508200	Enhancers	Osteobl	bone
40	chr15:57505800-57509800	Enhancers	NHDF-Ad	bronchial
41	chr15:57505800-57510000	Enhancers	Fetal Kidney	kidney
42	chr15:57506000-57509200	Enhancers	A549	lung
43	chr15:57506000-57511600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:57506200-57508200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr15:57506200-57508200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:57506200-57508600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:57506400-57508200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:57506400-57508200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:57506400-57508400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:57506400-57510000	Weak transcription	Primary monocytes fromperipheralblood	blood

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