Variant report

Variant	rs60975003
Chromosome Location	chr13:95236848-95236849
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	MYC	chr13:95236842-95237042	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95236767..95238765-chr13:95240414..95242453,2	MCF-7	breast:

Variant related genes	Relation type
TGDS	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58752239	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59644148	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7320230	0.86[AFR][1000 genomes]
rs7326503	0.94[EUR][1000 genomes]
rs73546623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73546690	0.85[AFR][1000 genomes]
rs7989918	0.86[AFR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95219200-95238200	Strong transcription	Primary T cells from cord blood	blood
2	chr13:95219600-95237000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:95219600-95245600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:95220800-95237000	Strong transcription	GM12878-XiMat	blood
5	chr13:95220800-95237600	Strong transcription	Fetal Intestine Large	intestine
6	chr13:95221000-95237000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:95221000-95238000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr13:95221000-95240000	Strong transcription	Fetal Thymus	thymus
9	chr13:95221000-95241000	Strong transcription	Dnd41	blood
10	chr13:95221200-95237400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr13:95221200-95238000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:95221200-95239200	Weak transcription	Brain Germinal Matrix	brain
13	chr13:95221400-95237400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:95221400-95242800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr13:95221400-95245800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr13:95221600-95240000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:95221800-95237000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr13:95221800-95239800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:95221800-95241200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr13:95222000-95237400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr13:95222000-95238200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:95222000-95240000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr13:95222000-95245000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr13:95222000-95247200	Weak transcription	Fetal Brain Male	brain
25	chr13:95222200-95237400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:95222200-95239200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr13:95222200-95245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:95222200-95245200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr13:95222400-95237000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr13:95222400-95237000	Strong transcription	NH-A	brain
31	chr13:95222400-95237000	Strong transcription	Osteobl	bone
32	chr13:95222400-95237200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr13:95222400-95237200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr13:95222400-95237400	Strong transcription	Placenta	Placenta
35	chr13:95222400-95239800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:95222600-95237600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr13:95222600-95240000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:95222800-95239600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr13:95223000-95245800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr13:95224200-95246400	Weak transcription	Fetal Heart	heart
41	chr13:95224200-95246400	Weak transcription	Stomach Mucosa	stomach
42	chr13:95224400-95242800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr13:95225000-95247400	Weak transcription	Fetal Brain Female	brain
44	chr13:95225200-95242800	Weak transcription	Small Intestine	intestine
45	chr13:95226000-95237200	Strong transcription	Primary B cells from cord blood	blood
46	chr13:95226000-95245800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr13:95226200-95245400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:95226800-95246800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr13:95228000-95237400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr13:95228600-95237000	Strong transcription	Fetal Muscle Leg	muscle

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