Variant report

Variant	rs9332249
Chromosome Location	chr13:48810585-48810586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48809762..48812244-chr13:48818383..48819991,2	K562	blood:
2	chr13:48801755..48804565-chr13:48807877..48810629,2	K562	blood:
3	chr13:48808662..48812732-chr13:48820679..48824988,4	K562	blood:
4	chr13:48803757..48809033-chr13:48809443..48816513,10	MCF-7	breast:
5	chr13:48807837..48812135-chr13:48876736..48879539,4	MCF-7	breast:

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

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

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

rs_ID	r²[population]
rs7321677	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7987490	0.92[AFR][1000 genomes];1.00[AMR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48806600-48811000	Active TSS	Psoas Muscle	Psoas
2	chr13:48806600-48811000	Active TSS	Right Ventricle	heart
3	chr13:48806600-48812200	Active TSS	Ovary	ovary
4	chr13:48806600-48812200	Active TSS	Right Atrium	heart
5	chr13:48806800-48810600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr13:48807000-48811200	Active TSS	Thymus	Thymus
7	chr13:48808200-48810600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr13:48808200-48810600	Flanking Active TSS	HUVEC	blood vessel
9	chr13:48808200-48812000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr13:48808400-48810800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:48808400-48810800	Weak transcription	Gastric	stomach
12	chr13:48808400-48810800	Weak transcription	Spleen	Spleen
13	chr13:48808400-48811800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr13:48808400-48815200	Weak transcription	Esophagus	oesophagus
15	chr13:48808400-48829000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:48808400-48829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:48808600-48810800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:48808800-48811600	Flanking Active TSS	Osteobl	bone
20	chr13:48808800-48811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:48808800-48812200	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr13:48809000-48811600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr13:48809000-48811600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr13:48809200-48810600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr13:48809200-48811600	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr13:48809200-48812200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:48809200-48812400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr13:48809400-48810800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:48809400-48811600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
30	chr13:48809400-48811600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:48809400-48812200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr13:48809600-48812000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:48809600-48812000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr13:48809600-48812200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:48809600-48812200	Enhancers	A549	lung
36	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:48809800-48810800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr13:48809800-48811000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr13:48809800-48811600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr13:48809800-48811600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
41	chr13:48809800-48811600	Enhancers	Small Intestine	intestine
42	chr13:48809800-48812400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
43	chr13:48809800-48812600	Flanking Active TSS	NHEK	skin
44	chr13:48809800-48829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:48810000-48810800	Active TSS	Fetal Muscle Leg	muscle
46	chr13:48810000-48810800	Weak transcription	Left Ventricle	heart
47	chr13:48810000-48810800	Enhancers	Hela-S3	cervix
48	chr13:48810000-48810800	Enhancers	NHDF-Ad	bronchial
49	chr13:48810000-48811000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr13:48810000-48811000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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