Variant report

Variant	rs9590036
Chromosome Location	chr13:95234187-95234188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95231577..95233411-chr13:95234016..95236097,2	MCF-7	breast:
2	chr13:91999600..92001415-chr13:95232810..95234468,2	K562	blood:

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16949940	0.88[EUR][1000 genomes]
rs55960139	0.87[AMR][1000 genomes]
rs61965607	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7322453	0.87[EUR][1000 genomes]
rs7330899	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7336371	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7997429	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8001569	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9301978	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9516436	0.88[EUR][1000 genomes]
rs9524538	0.81[EUR][1000 genomes]
rs9524552	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9524570	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9590039	0.88[EUR][1000 genomes]
rs9590043	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv562756	chr13:95178317-95238154	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95215000-95235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:95219200-95238200	Strong transcription	Primary T cells from cord blood	blood
3	chr13:95219600-95237000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:95219600-95245600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr13:95220800-95237000	Strong transcription	GM12878-XiMat	blood
6	chr13:95220800-95237600	Strong transcription	Fetal Intestine Large	intestine
7	chr13:95221000-95237000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:95221000-95238000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr13:95221000-95240000	Strong transcription	Fetal Thymus	thymus
10	chr13:95221000-95241000	Strong transcription	Dnd41	blood
11	chr13:95221200-95235600	Strong transcription	Adipose Nuclei	Adipose
12	chr13:95221200-95236600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr13:95221200-95237400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr13:95221200-95238000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:95221200-95239200	Weak transcription	Brain Germinal Matrix	brain
16	chr13:95221400-95235400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:95221400-95237400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:95221400-95242800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr13:95221400-95245800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:95221600-95240000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:95221800-95237000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr13:95221800-95239800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:95221800-95241200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr13:95222000-95236000	Strong transcription	HMEC	breast
25	chr13:95222000-95237400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr13:95222000-95238200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:95222000-95240000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr13:95222000-95245000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr13:95222000-95247200	Weak transcription	Fetal Brain Male	brain
30	chr13:95222200-95235000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:95222200-95237400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:95222200-95239200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr13:95222200-95245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:95222200-95245200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr13:95222400-95237000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr13:95222400-95237000	Strong transcription	NH-A	brain
37	chr13:95222400-95237000	Strong transcription	Osteobl	bone
38	chr13:95222400-95237200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr13:95222400-95237200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr13:95222400-95237400	Strong transcription	Placenta	Placenta
41	chr13:95222400-95239800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr13:95222600-95235600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:95222600-95237600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr13:95222600-95240000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr13:95222800-95239600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:95223000-95235400	Strong transcription	HUVEC	blood vessel
47	chr13:95223000-95235600	Strong transcription	Rectal Smooth Muscle	rectum
48	chr13:95223000-95245800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr13:95223800-95235800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:95224200-95246400	Weak transcription	Fetal Heart	heart

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