Variant report

Variant	rs17071530
Chromosome Location	chr13:48837515-48837516
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48826673..48829432-chr13:48836005..48837763,2	K562	blood:
2	chr13:48807297..48809547-chr13:48835678..48837952,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17071563	0.91[AFR][1000 genomes]
rs4151504	0.82[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:48810800-48841000	Weak transcription	Hela-S3	cervix
3	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr13:48825400-48841200	Strong transcription	Fetal Thymus	thymus
5	chr13:48825400-48844400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr13:48826200-48840000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:48826400-48841200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:48826800-48842000	Weak transcription	K562	blood
9	chr13:48827400-48840200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr13:48827600-48838800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:48827600-48839000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:48827600-48839800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:48827600-48839800	Strong transcription	Dnd41	blood
14	chr13:48827600-48841000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:48827600-48843600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:48827800-48837600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:48827800-48838200	Strong transcription	Primary hematopoietic stem cells	blood
18	chr13:48827800-48839800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:48827800-48839800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr13:48827800-48840800	Strong transcription	Placenta	Placenta
21	chr13:48827800-48843800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:48828000-48838000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:48828000-48838600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:48828000-48838800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr13:48828000-48840400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr13:48828200-48839000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:48828200-48840000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:48828400-48838400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr13:48828600-48840200	Strong transcription	Adipose Nuclei	Adipose
30	chr13:48828600-48845800	Weak transcription	Stomach Mucosa	stomach
31	chr13:48828800-48840800	Strong transcription	Liver	Liver
32	chr13:48829000-48839800	Strong transcription	Fetal Lung	lung
33	chr13:48829800-48843400	Weak transcription	Spleen	Spleen
34	chr13:48830000-48838400	Strong transcription	Osteobl	bone
35	chr13:48830800-48840800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr13:48831200-48841200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr13:48832800-48838000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:48832800-48845200	Weak transcription	Fetal Intestine Small	intestine
39	chr13:48833000-48838200	Strong transcription	Fetal Intestine Large	intestine
40	chr13:48833000-48838400	Strong transcription	NHDF-Ad	bronchial
41	chr13:48833000-48843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:48833400-48840000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr13:48833400-48840400	Strong transcription	Fetal Kidney	kidney
44	chr13:48833400-48840600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr13:48833600-48837600	Weak transcription	Right Ventricle	heart
46	chr13:48833600-48837800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr13:48833600-48838600	Strong transcription	HepG2	liver
48	chr13:48833600-48840400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:48833600-48843600	Weak transcription	Pancreas	Pancrea
50	chr13:48833600-48844400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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