Variant report

Variant	rs9332263
Chromosome Location	chr13:48817465-48817466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48816853..48818808-chr13:48829859..48831555,2	K562	blood:
2	chr13:48813965..48816179-chr13:48816812..48818519,2	MCF-7	breast:
3	chr13:48817078..48818684-chr13:48876253..48878223,2	K562	blood:
4	chr13:48816672..48819257-chr13:48820159..48822647,2	K562	blood:
5	chr13:48805640..48809196-chr13:48816865..48821850,5	MCF-7	breast:
6	chr13:48812679..48815522-chr13:48817152..48819257,2	K562	blood:
7	chr13:48610565..48612356-chr13:48816813..48819591,2	K562	blood:

Variant related genes	Relation type
ENSG00000231473	Chromatin interaction
ENSG00000136156	Chromatin interaction
ENSG00000139687	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000136159	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17071516	1.00[AFR][1000 genomes]
rs2897585	0.86[AFR][1000 genomes]
rs3092869	0.86[AFR][1000 genomes]
rs3092885	0.86[AFR][1000 genomes]
rs4151427	0.86[AFR][1000 genomes]
rs4151443	0.86[AFR][1000 genomes]
rs4151444	0.86[AFR][1000 genomes]
rs4151518	0.86[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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48808400-48829000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:48808400-48829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:48809800-48829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:48810400-48830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:48810800-48841000	Weak transcription	Hela-S3	cervix
8	chr13:48811200-48819200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr13:48811400-48828200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:48811600-48819800	Weak transcription	Spleen	Spleen
12	chr13:48811600-48825800	Weak transcription	Gastric	stomach
13	chr13:48811600-48827600	Weak transcription	Thymus	Thymus
14	chr13:48811600-48829000	Weak transcription	Colonic Mucosa	Colon
15	chr13:48811600-48829600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:48811600-48835600	Weak transcription	Fetal Brain Male	brain
17	chr13:48811600-48836800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr13:48811800-48818200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr13:48811800-48825200	Weak transcription	Fetal Brain Female	brain
20	chr13:48811800-48826400	Weak transcription	Psoas Muscle	Psoas
21	chr13:48811800-48827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:48811800-48828000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:48811800-48828200	Weak transcription	Aorta	Aorta
24	chr13:48812000-48825000	Weak transcription	Brain Substantia Nigra	brain
25	chr13:48812200-48819200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr13:48812200-48825000	Weak transcription	Brain Angular Gyrus	brain
27	chr13:48812200-48825200	Weak transcription	Fetal Kidney	kidney
28	chr13:48812200-48825200	Weak transcription	HSMMtube	muscle
29	chr13:48812200-48826200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr13:48812200-48828200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr13:48812400-48818600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr13:48812400-48819800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr13:48812400-48823000	Weak transcription	Fetal Lung	lung
34	chr13:48812400-48826200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:48812400-48827600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr13:48812400-48827600	Weak transcription	HUVEC	blood vessel
37	chr13:48812400-48827800	Weak transcription	HMEC	breast
38	chr13:48812400-48827800	Weak transcription	NH-A	brain
39	chr13:48812400-48828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:48812400-48828200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr13:48812600-48827800	Weak transcription	Osteobl	bone
42	chr13:48813200-48818600	Strong transcription	Fetal Thymus	thymus
43	chr13:48813400-48829600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr13:48813600-48818400	Strong transcription	Dnd41	blood
45	chr13:48813600-48826400	Weak transcription	Right Atrium	heart
46	chr13:48813600-48828200	Weak transcription	HSMM	muscle
47	chr13:48813800-48817600	Weak transcription	Pancreas	Pancrea
48	chr13:48813800-48818600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr13:48813800-48825800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:48814000-48819200	Strong transcription	Primary monocytes fromperipheralblood	blood

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