Variant report

Variant	rs9888460
Chromosome Location	chr13:30841754-30841755
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	chr13:30839724..30842473-chr19:16111566..16113469,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10492463	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12428633	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12430537	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61946917	0.92[AFR][1000 genomes]
rs61946918	0.92[AFR][1000 genomes]
rs61946921	0.92[AFR][1000 genomes]
rs74043063	0.80[EUR][1000 genomes]
rs74043064	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74043068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74043069	0.87[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	nsv899962	chr13:30831422-30863235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30799600-30845200	Weak transcription	HMEC	breast
2	chr13:30805600-30841800	Weak transcription	Ovary	ovary
3	chr13:30805600-30853200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr13:30810600-30849200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr13:30813000-30849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:30823600-30849200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:30823600-30849200	Weak transcription	HSMM	muscle
8	chr13:30823800-30849200	Weak transcription	Fetal Brain Female	brain
9	chr13:30824000-30845200	Weak transcription	Thymus	Thymus
10	chr13:30824000-30848800	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:30824200-30849200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:30824400-30849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:30826800-30860400	Weak transcription	Esophagus	oesophagus
14	chr13:30828200-30849000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:30828400-30848800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:30828600-30857600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:30829600-30845200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:30829600-30845200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:30829600-30848800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:30829800-30847400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr13:30829800-30850000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:30832000-30845200	Weak transcription	Primary B cells from cord blood	blood
23	chr13:30832000-30849000	Weak transcription	Fetal Lung	lung
24	chr13:30832200-30842000	Weak transcription	NHDF-Ad	bronchial
25	chr13:30832200-30845200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr13:30832200-30845200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:30832200-30848000	Weak transcription	NHLF	lung
28	chr13:30832200-30849200	Weak transcription	Aorta	Aorta
29	chr13:30832200-30849400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:30832200-30855400	Weak transcription	Fetal Brain Male	brain
31	chr13:30832200-30861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr13:30832200-30863400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr13:30832200-30863800	Weak transcription	HSMMtube	muscle
34	chr13:30832400-30842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:30832400-30846600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr13:30832400-30849000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:30832400-30859400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr13:30833000-30845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr13:30834200-30841800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:30834600-30853000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr13:30837200-30853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:30837800-30860000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:30840400-30847000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:30840400-30859800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr13:30841000-30842400	Enhancers	Colon Smooth Muscle	Colon
46	chr13:30841000-30845200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:30841600-30842000	Enhancers	Fetal Kidney	kidney
48	chr13:30841600-30842400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:30841600-30843000	Strong transcription	Dnd41	blood
50	chr13:30841600-30849000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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