Variant report

Variant	rs9550538
Chromosome Location	chr13:30815010-30815011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30809077..30811764-chr13:30812338..30815075,3	K562	blood:
2	chr13:30809077..30812226-chr13:30812338..30816597,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12585819	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12866391	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12870695	0.94[ASN][1000 genomes]
rs17632858	0.85[JPT][hapmap]
rs2031998	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2149970	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2149971	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2149973	0.90[CHB][hapmap]
rs35331241	0.88[ASN][1000 genomes]
rs35963596	0.99[ASN][1000 genomes]
rs3803272	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825532	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825533	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs61946958	0.92[ASN][1000 genomes]
rs7328946	0.95[CHB][hapmap]
rs7987688	0.98[ASN][1000 genomes]
rs9550539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9550540	0.95[ASN][1000 genomes]
rs9550541	0.95[ASN][1000 genomes]
rs9551867	0.80[CEU][hapmap];0.85[CHB][hapmap]
rs9551868	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9551875	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9551879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9551882	0.86[ASN][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	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30791000-30831400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr13:30796800-30831400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:30797000-30823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:30799200-30831400	Weak transcription	Aorta	Aorta
5	chr13:30799400-30823200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:30799400-30831600	Weak transcription	Right Ventricle	heart
7	chr13:30799600-30817400	Weak transcription	Brain Anterior Caudate	brain
8	chr13:30799600-30823400	Weak transcription	A549	lung
9	chr13:30799600-30823400	Weak transcription	NHEK	skin
10	chr13:30799600-30845200	Weak transcription	HMEC	breast
11	chr13:30801000-30821200	Weak transcription	Fetal Brain Male	brain
12	chr13:30801200-30815400	Weak transcription	Osteobl	bone
13	chr13:30801800-30815800	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:30803000-30831400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:30803400-30827800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:30803600-30815400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr13:30803600-30830400	Weak transcription	Fetal Heart	heart
18	chr13:30803600-30831400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:30803800-30815800	Weak transcription	Fetal Intestine Small	intestine
20	chr13:30803800-30818000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr13:30803800-30823200	Weak transcription	Fetal Intestine Large	intestine
22	chr13:30804400-30831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:30804800-30823400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:30805600-30815600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:30805600-30818800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:30805600-30822600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:30805600-30823200	Weak transcription	Liver	Liver
28	chr13:30805600-30823400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr13:30805600-30823400	Weak transcription	Fetal Brain Female	brain
30	chr13:30805600-30823400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr13:30805600-30831600	Weak transcription	Left Ventricle	heart
32	chr13:30805600-30831600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr13:30805600-30841800	Weak transcription	Ovary	ovary
34	chr13:30805600-30853200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:30808200-30823400	Weak transcription	Fetal Lung	lung
36	chr13:30809000-30823400	Weak transcription	Brain Substantia Nigra	brain
37	chr13:30809400-30815800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:30809400-30823200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:30809400-30823400	Weak transcription	Brain Hippocampus Middle	brain
40	chr13:30809800-30815800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr13:30809800-30823200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:30810000-30823200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:30810000-30831600	Weak transcription	NHLF	lung
44	chr13:30810400-30821800	Weak transcription	Fetal Muscle Leg	muscle
45	chr13:30810600-30823200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:30810600-30849200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr13:30811000-30823600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:30811400-30822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:30812400-30823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:30812600-30815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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