Variant report

Variant	rs9596560
Chromosome Location	chr13:52243514-52243515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52238827..52243045-chr13:52243097..52246375,4	MCF-7	breast:
2	chr13:52025589..52028122-chr13:52242381..52243994,2	MCF-7	breast:
3	chr13:52236778..52240466-chr13:52241446..52244074,4	MCF-7	breast:
4	chr13:52234515..52237398-chr13:52242766..52244811,2	K562	blood:

Variant related genes	Relation type
ENSG00000236778	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10467509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10676	1.00[CHD][hapmap]
rs11148228	1.00[CHD][hapmap]
rs11616606	1.00[CHD][hapmap]
rs4113264	1.00[CHD][hapmap]
rs9316549	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9316554	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9568667	1.00[YRI][hapmap]
rs9591413	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9596540	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9596542	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9596546	1.00[YRI][hapmap];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	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52219600-52253800	Weak transcription	Psoas Muscle	Psoas
2	chr13:52220400-52259000	Weak transcription	Thymus	Thymus
3	chr13:52221200-52253800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr13:52228400-52247000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:52228600-52248000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:52228600-52254000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:52229000-52248400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:52231600-52249600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:52231800-52244000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:52232200-52261800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:52232800-52256400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr13:52234000-52277800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr13:52234200-52244600	Weak transcription	GM12878-XiMat	blood
14	chr13:52234200-52258800	Weak transcription	Adipose Nuclei	Adipose
15	chr13:52234200-52263200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:52234800-52257600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:52235200-52253800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:52236600-52248600	Weak transcription	Lung	lung
19	chr13:52237200-52244600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:52237200-52257400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:52237200-52261400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr13:52237400-52244200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr13:52237400-52254400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr13:52237600-52248200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:52238400-52250000	Weak transcription	Primary T cells from cord blood	blood
26	chr13:52238600-52244400	Weak transcription	Ovary	ovary
27	chr13:52238600-52247400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr13:52238600-52248400	Weak transcription	Left Ventricle	heart
29	chr13:52238600-52249600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:52238600-52256800	Weak transcription	Fetal Muscle Leg	muscle
31	chr13:52238600-52259400	Weak transcription	Fetal Stomach	stomach
32	chr13:52238800-52244000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr13:52238800-52247400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:52239000-52244000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr13:52239200-52257400	Weak transcription	Colon Smooth Muscle	Colon
36	chr13:52239200-52263200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:52240200-52244000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr13:52240200-52247400	Weak transcription	HMEC	breast
39	chr13:52240400-52250200	Weak transcription	Gastric	stomach
40	chr13:52240600-52243800	Weak transcription	Brain Anterior Caudate	brain
41	chr13:52240600-52244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:52240800-52243800	Weak transcription	Right Ventricle	heart
43	chr13:52240800-52244000	Weak transcription	NHLF	lung
44	chr13:52240800-52244200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr13:52240800-52247000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:52240800-52247200	Weak transcription	Fetal Lung	lung
47	chr13:52240800-52247200	Weak transcription	NHEK	skin
48	chr13:52240800-52248400	Weak transcription	Aorta	Aorta
49	chr13:52240800-52248400	Weak transcription	Esophagus	oesophagus
50	chr13:52240800-52248400	Weak transcription	Pancreas	Pancrea

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