Variant report

Variant	rs1099420
Chromosome Location	chr13:48607153-48607154
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	CEBPB	chr13:48606806-48607156	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48600867..48607443-chr13:48607705..48615093,10	MCF-7	breast:

Variant related genes	Relation type
NUDT15	TF binding region
ENSG00000136159	Chromatin interaction
ENSG00000136143	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1098355	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1103148	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs840433	1.00[YRI][hapmap]
rs840438	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9534915	1.00[AMR][1000 genomes]
rs9534920	1.00[AMR][1000 genomes]
rs9534925	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48576000-48610800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr13:48576000-48611400	Weak transcription	Left Ventricle	heart
3	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr13:48584000-48610800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:48584200-48611200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:48599600-48610200	Weak transcription	HepG2	liver
7	chr13:48602000-48611200	Weak transcription	Brain Anterior Caudate	brain
8	chr13:48602400-48611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:48602600-48610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:48602800-48611400	Weak transcription	Aorta	Aorta
11	chr13:48603000-48610400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:48603000-48611000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:48603200-48610800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:48603400-48610200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:48603400-48610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr13:48603800-48610800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:48603800-48611400	Weak transcription	Ovary	ovary
18	chr13:48604000-48608200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr13:48604600-48609000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:48604800-48607400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr13:48604800-48608200	ZNF genes & repeats	Fetal Lung	lung
22	chr13:48604800-48609200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:48605000-48607200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
24	chr13:48605000-48607200	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr13:48605000-48608400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr13:48605000-48611000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr13:48605200-48609200	ZNF genes & repeats	Dnd41	blood
28	chr13:48605400-48607200	Strong transcription	Fetal Kidney	kidney
29	chr13:48605400-48610800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr13:48605400-48610800	Weak transcription	Liver	Liver
31	chr13:48605400-48610800	Weak transcription	NHLF	lung
32	chr13:48605600-48608600	Weak transcription	Primary T cells from cord blood	blood
33	chr13:48605600-48609000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr13:48605600-48610200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr13:48605800-48607200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:48606000-48607200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:48606200-48611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:48606400-48610800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr13:48606600-48610800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:48606600-48610800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr13:48606600-48611000	Weak transcription	Thymus	Thymus
42	chr13:48606600-48611400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:48606800-48610800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:48606800-48610800	Weak transcription	HUVEC	blood vessel
45	chr13:48607000-48607800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr13:48607000-48610000	Weak transcription	Fetal Thymus	thymus
47	chr13:48607000-48610400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:48607000-48610400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:48607000-48610800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:48607000-48610800	Weak transcription	Fetal Stomach	stomach

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