Variant report

Variant	rs7987490
Chromosome Location	chr13:48811692-48811693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48811286..48815057-chr13:48876543..48879640,3	MCF-7	breast:
2	chr13:48809762..48812244-chr13:48818383..48819991,2	K562	blood:
3	chr13:48808662..48812732-chr13:48820679..48824988,4	K562	blood:
4	chr13:48803757..48809033-chr13:48809443..48816513,10	MCF-7	breast:
5	chr13:48811595..48813278-chr13:48821384..48823483,3	K562	blood:
6	chr13:48807837..48812135-chr13:48876736..48879539,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231473	Chromatin interaction
ENSG00000139687	Chromatin interaction
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4151509	1.00[ASW][hapmap]
rs4151513	1.00[ASW][hapmap]
rs58653054	0.83[AFR][1000 genomes]
rs7321677	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9332249	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332266	1.00[YRI][hapmap];0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48806600-48812200	Active TSS	Ovary	ovary
2	chr13:48806600-48812200	Active TSS	Right Atrium	heart
3	chr13:48808200-48812000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr13:48808400-48811800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr13:48808400-48815200	Weak transcription	Esophagus	oesophagus
6	chr13:48808400-48829000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:48808400-48829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:48808800-48811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:48808800-48812200	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr13:48809200-48812200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:48809200-48812400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr13:48809400-48812200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr13:48809600-48812000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:48809600-48812000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr13:48809600-48812200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:48809600-48812200	Enhancers	A549	lung
18	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:48809800-48812400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
20	chr13:48809800-48812600	Flanking Active TSS	NHEK	skin
21	chr13:48809800-48829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:48810000-48811800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:48810000-48811800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:48810000-48811800	Flanking Active TSS	Fetal Brain Female	brain
25	chr13:48810000-48812000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:48810000-48812000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr13:48810000-48812200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:48810000-48812200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr13:48810000-48812200	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr13:48810000-48812200	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr13:48810000-48813400	Weak transcription	Lung	lung
32	chr13:48810000-48813400	Weak transcription	Pancreas	Pancrea
33	chr13:48810000-48813600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr13:48810200-48811800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:48810200-48811800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr13:48810200-48811800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:48810200-48811800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:48810200-48811800	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr13:48810200-48812000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:48810200-48812000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr13:48810200-48812200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:48810200-48812400	Enhancers	NH-A	brain
43	chr13:48810200-48813400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr13:48810200-48814200	Enhancers	HepG2	liver
45	chr13:48810200-48816400	Weak transcription	Stomach Mucosa	stomach
46	chr13:48810400-48811800	Active TSS	Brain Cingulate Gyrus	brain
47	chr13:48810400-48812000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:48810400-48812400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr13:48810400-48812400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:48810400-48812400	Enhancers	Fetal Heart	heart

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