Variant report

Variant	rs1693534
Chromosome Location	chr15:59281962-59281963
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59281637..59284410-chr15:59285057..59286558,2	K562	blood:
2	chr15:59281592..59283909-chr15:59290407..59293183,2	MCF-7	breast:
3	chr15:59278921..59283219-chr15:59397062..59399778,7	K562	blood:
4	chr15:59225566..59227578-chr15:59280819..59282364,2	K562	blood:
5	chr15:59223432..59227578-chr15:59278800..59283796,7	K562	blood:
6	chr15:59277958..59282108-chr15:59396207..59399778,7	K562	blood:

Variant related genes	Relation type
ENSG00000137776	Chromatin interaction
ENSG00000157456	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12905422	0.89[CEU][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap]
rs2899637	0.83[CEU][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs7171316	0.83[CEU][hapmap]
rs8024549	0.82[CEU][hapmap]

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	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59279200-59282000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr15:59279200-59282000	Active TSS	Fetal Intestine Large	intestine
3	chr15:59279200-59282000	Active TSS	Fetal Kidney	kidney
4	chr15:59279200-59282000	Active TSS	Right Atrium	heart
5	chr15:59279200-59282400	Active TSS	NHLF	lung
6	chr15:59279200-59282600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:59279400-59282000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:59279400-59282000	Active TSS	GM12878-XiMat	blood
9	chr15:59279600-59282000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:59279600-59282400	Active TSS	HMEC	breast
11	chr15:59279600-59282800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:59280400-59282000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr15:59280600-59282000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr15:59280600-59282000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr15:59280600-59282000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:59280600-59282000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:59280600-59282400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:59280800-59282000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr15:59280800-59282000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr15:59280800-59282000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:59280800-59282000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr15:59280800-59282400	Flanking Active TSS	Dnd41	blood
23	chr15:59280800-59282600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:59280800-59282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:59280800-59282600	Weak transcription	Left Ventricle	heart
26	chr15:59280800-59282600	Weak transcription	Lung	lung
27	chr15:59280800-59282600	Weak transcription	Pancreas	Pancrea
28	chr15:59280800-59283200	Weak transcription	Spleen	Spleen
29	chr15:59280800-59295200	Weak transcription	Gastric	stomach
30	chr15:59280800-59308800	Weak transcription	Esophagus	oesophagus
31	chr15:59280800-59327800	Weak transcription	Small Intestine	intestine
32	chr15:59281000-59282000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:59281000-59282000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr15:59281000-59282200	Active TSS	Brain Germinal Matrix	brain
35	chr15:59281000-59292400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:59281200-59282200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr15:59281200-59282400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:59281200-59282400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr15:59281200-59282400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr15:59281200-59282400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr15:59281200-59282400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:59281200-59282400	Enhancers	Fetal Heart	heart
43	chr15:59281200-59283200	Weak transcription	Fetal Thymus	thymus
44	chr15:59281200-59283800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:59281200-59284000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:59281200-59284200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:59281400-59282000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:59281400-59282000	Active TSS	Brain Angular Gyrus	brain
50	chr15:59281400-59282000	Active TSS	Brain Inferior Temporal Lobe	brain

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